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Entry version 157 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Podocin

Gene

NPHS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.

Caution

Variants Leu-20 and Gln-264 have been originally reported as disease-causing mutations in NPHS2 (PubMed:10742096, PubMed:20947785). In contrast, Gln-237 has been described as a variant of unknown pathological significance (PubMed:15253708). These 3 variants have been reclassified as neutral polymorphisms (PubMed:24227627).Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-373753 Nephrin family interactions

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.21.1.2 the stomatin/podocin/band 7/nephrosis,2/spfh (stomatin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Podocin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPHS2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:13394 NPHS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604766 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9NP85

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 102CytoplasmicSequence analysisAdd BLAST102
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei103 – 123Sequence analysisAdd BLAST21
Topological domaini124 – 383CytoplasmicSequence analysisAdd BLAST260

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nephrotic syndrome 2 (NPHS2)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0721343R → G in NPHS2. 1 Publication1
Natural variantiVAR_07213518R → T in NPHS2. 1 Publication1
Natural variantiVAR_07213626R → M in NPHS2. 1 Publication1
Natural variantiVAR_07213728K → M in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1340195940Ensembl.1
Natural variantiVAR_07121229A → T in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs561887984EnsemblClinVar.1
Natural variantiVAR_07213830E → K in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1477180313EnsemblClinVar.1
Natural variantiVAR_07213930E → Q in NPHS2. 1 Publication1
Natural variantiVAR_07214039Q → L in NPHS2. 1 Publication1
Natural variantiVAR_07214189P → T in NPHS2. 1 Publication1
Natural variantiVAR_01023292G → C in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs74315345EnsemblClinVar.1
Natural variantiVAR_07121697G → S in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200913299Ensembl.1
Natural variantiVAR_071217107L → P in NPHS2. 1 Publication1
Natural variantiVAR_072142115M → T in NPHS2. 1 Publication1
Natural variantiVAR_071218116T → P in NPHS2. 1 Publication1
Natural variantiVAR_071219118P → L in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs869025495EnsemblClinVar.1
Natural variantiVAR_072143122W → L in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_071220122W → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_072144124C → W in NPHS2. 1 Publication1
Natural variantiVAR_072145126K → N in NPHS2. 1 Publication1
Natural variantiVAR_079808138 – 383Missing in NPHS2. 1 PublicationAdd BLAST246
Natural variantiVAR_010233138R → Q in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs74315342EnsemblClinVar.1
Natural variantiVAR_072146139L → R in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1345260812EnsemblClinVar.1
Natural variantiVAR_072147142L → P in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs12240233Ensembl.1
Natural variantiVAR_010234160D → G in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315346EnsemblClinVar.1
Natural variantiVAR_071221168R → C in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs786204583EnsemblClinVar.1
Natural variantiVAR_071222168R → H in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs530318579EnsemblClinVar.1
Natural variantiVAR_071223168R → S in NPHS2. 1 Publication1
Natural variantiVAR_071224172L → V in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071225175P → V in NPHS2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_010235180V → M in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315347EnsemblClinVar.1
Natural variantiVAR_071226183D → Y in NPHS2. 1 Publication1
Natural variantiVAR_071227187M → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072148192I → V in NPHS2. 1 Publication1
Natural variantiVAR_071228208A → T in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs200587413EnsemblClinVar.1
Natural variantiVAR_072149211S → A in NPHS2. 1 Publication1
Natural variantiVAR_072150213A → T in NPHS2. 1 Publication1
Natural variantiVAR_072151218V → G in NPHS2. 1 Publication1
Natural variantiVAR_071229221T → I in NPHS2. 1 Publication1
Natural variantiVAR_072152228H → D in NPHS2. 1 Publication1
Natural variantiVAR_072153229R → L in NPHS2. 1 Publication1
Natural variantiVAR_071230229R → Q in NPHS2; associated with susceptibility to NPHS2; pathogenic only when combined with other mutations on the other allele. 6 PublicationsCorresponds to variant dbSNP:rs61747728EnsemblClinVar.1
Natural variantiVAR_071231236 – 238Missing in NPHS2. 1 Publication3
Natural variantiVAR_071233238R → S in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs748812981EnsemblClinVar.1
Natural variantiVAR_071235260V → E in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs775006954Ensembl.1
Natural variantiVAR_072154267D → N in NPHS2. 1 Publication1
Natural variantiVAR_072155268V → L in NPHS2. 1 Publication1
Natural variantiVAR_072156276H → L in NPHS2. 1 Publication1
Natural variantiVAR_071237281E → A in NPHS2. 1 Publication1
Natural variantiVAR_071238281E → K in NPHS2. 1 Publication1
Natural variantiVAR_075617284A → V in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780761368Ensembl.1
Natural variantiVAR_071239290V → M in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs200482683Ensembl.1
Natural variantiVAR_010236291R → W in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315348Ensembl.1
Natural variantiVAR_071240296E → K in NPHS2. 1 Publication1
Natural variantiVAR_072157301Missing in NPHS2. 1 Publication1
Natural variantiVAR_071241309A → V in NPHS2. 1 Publication1
Natural variantiVAR_075618310E → K in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_079810310E → V in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071242315T → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072158322R → Q in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs776859868Ensembl.1
Natural variantiVAR_079811328Q → R in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071243333E → G in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866921812Ensembl.1
Natural variantiVAR_072159341P → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1214047676Ensembl.1
Natural variantiVAR_072160370V → G in NPHS2. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7827

MalaCards human disease database

More...
MalaCardsi
NPHS2
MIMi600995 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000116218

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31710

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NP85

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPHS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12230467

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000940351 – 383PodocinAdd BLAST383

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi101S-palmitoyl cysteineBy similarity1
Isoform 2 (identifier: Q9NP85-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi287N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Isoform 2 is glycosylated.

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NP85

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NP85

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NP85

PeptideAtlas

More...
PeptideAtlasi
Q9NP85

PRoteomics IDEntifications database

More...
PRIDEi
Q9NP85

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81929 [Q9NP85-1]
81930 [Q9NP85-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NP85

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NP85

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000116218 Expressed in 28 organ(s), highest expression level in renal glomerulus

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NP85 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037267
HPA049486

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with nephrin/NPHS1 and KIRREL1.

Interacts directly with CD2AP.

Interacts with DDN (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
IQGAP1P469404EBI-6897706,EBI-297509

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
113590, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NP85, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356587

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NP85

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the band 7/mec-2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2621 Eukaryota
COG0330 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182769

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000217040

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NP85

KEGG Orthology (KO)

More...
KOi
K18268

Identification of Orthologs from Complete Genome Data

More...
OMAi
HRSFTEI

Database of Orthologous Groups

More...
OrthoDBi
1062075at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NP85

TreeFam database of animal gene trees

More...
TreeFami
TF105750

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR018080 Band_7/stomatin-like_CS
IPR001972 Stomatin_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01145 Band_7, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00721 STOMATIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00244 PHB, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117892 SSF117892, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01270 BAND_7, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NP85-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR
60 70 80 90 100
AGTPGEPRAP AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA
110 120 130 140 150
CEWLLVLISL LFIIMTFPFS IWFCVKVVQE YERVIIFRLG HLLPGRAKGP
160 170 180 190 200
GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV TKDMFIMEID AICYYRMENA
210 220 230 240 250
SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS IAQDAKVALD
260 270 280 290 300
SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA
310 320 330 340 350
ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL
360 370 380
SSPSNRTQGS LPFPSPSKPV EPLNPKKKDS PML
Length:383
Mass (Da):42,201
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBBB57783C840F752
GO
Isoform 2 (identifier: Q9NP85-2) [UniParc]FASTAAdd to basket
Also known as: Pod-short

The sequence of this isoform differs from the canonical sequence as follows:
     179-246: Missing.

Show »
Length:315
Mass (Da):34,421
Checksum:i3DEBA37C01C87D84
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0721343R → G in NPHS2. 1 Publication1
Natural variantiVAR_07213518R → T in NPHS2. 1 Publication1
Natural variantiVAR_01023120P → L2 PublicationsCorresponds to variant dbSNP:rs74315344EnsemblClinVar.1
Natural variantiVAR_07213626R → M in NPHS2. 1 Publication1
Natural variantiVAR_07213728K → M in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1340195940Ensembl.1
Natural variantiVAR_07121229A → T in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs561887984EnsemblClinVar.1
Natural variantiVAR_07213830E → K in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1477180313EnsemblClinVar.1
Natural variantiVAR_07213930E → Q in NPHS2. 1 Publication1
Natural variantiVAR_07121334G → E1 Publication1
Natural variantiVAR_07214039Q → L in NPHS2. 1 Publication1
Natural variantiVAR_07121444E → A1 Publication1
Natural variantiVAR_07121561A → V2 PublicationsCorresponds to variant dbSNP:rs201050491EnsemblClinVar.1
Natural variantiVAR_07214189P → T in NPHS2. 1 Publication1
Natural variantiVAR_01023292G → C in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs74315345EnsemblClinVar.1
Natural variantiVAR_07121697G → S in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200913299Ensembl.1
Natural variantiVAR_071217107L → P in NPHS2. 1 Publication1
Natural variantiVAR_072142115M → T in NPHS2. 1 Publication1
Natural variantiVAR_071218116T → P in NPHS2. 1 Publication1
Natural variantiVAR_071219118P → L in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs869025495EnsemblClinVar.1
Natural variantiVAR_072143122W → L in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_071220122W → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_072144124C → W in NPHS2. 1 Publication1
Natural variantiVAR_072145126K → N in NPHS2. 1 Publication1
Natural variantiVAR_079808138 – 383Missing in NPHS2. 1 PublicationAdd BLAST246
Natural variantiVAR_010233138R → Q in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs74315342EnsemblClinVar.1
Natural variantiVAR_072146139L → R in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1345260812EnsemblClinVar.1
Natural variantiVAR_072147142L → P in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs12240233Ensembl.1
Natural variantiVAR_010234160D → G in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315346EnsemblClinVar.1
Natural variantiVAR_071221168R → C in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs786204583EnsemblClinVar.1
Natural variantiVAR_071222168R → H in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs530318579EnsemblClinVar.1
Natural variantiVAR_071223168R → S in NPHS2. 1 Publication1
Natural variantiVAR_071224172L → V in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071225175P → V in NPHS2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_010235180V → M in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315347EnsemblClinVar.1
Natural variantiVAR_071226183D → Y in NPHS2. 1 Publication1
Natural variantiVAR_071227187M → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072148192I → V in NPHS2. 1 Publication1
Natural variantiVAR_071228208A → T in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs200587413EnsemblClinVar.1
Natural variantiVAR_072149211S → A in NPHS2. 1 Publication1
Natural variantiVAR_072150213A → T in NPHS2. 1 Publication1
Natural variantiVAR_072151218V → G in NPHS2. 1 Publication1
Natural variantiVAR_071229221T → I in NPHS2. 1 Publication1
Natural variantiVAR_072152228H → D in NPHS2. 1 Publication1
Natural variantiVAR_072153229R → L in NPHS2. 1 Publication1
Natural variantiVAR_071230229R → Q in NPHS2; associated with susceptibility to NPHS2; pathogenic only when combined with other mutations on the other allele. 6 PublicationsCorresponds to variant dbSNP:rs61747728EnsemblClinVar.1
Natural variantiVAR_071231236 – 238Missing in NPHS2. 1 Publication3
Natural variantiVAR_071232237E → Q2 PublicationsCorresponds to variant dbSNP:rs146906190Ensembl.1
Natural variantiVAR_071233238R → S in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs748812981EnsemblClinVar.1
Natural variantiVAR_071234242A → V1 PublicationCorresponds to variant dbSNP:rs61747727EnsemblClinVar.1
Natural variantiVAR_071235260V → E in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs775006954Ensembl.1
Natural variantiVAR_071236264E → Q2 PublicationsCorresponds to variant dbSNP:rs369697947Ensembl.1
Natural variantiVAR_072154267D → N in NPHS2. 1 Publication1
Natural variantiVAR_072155268V → L in NPHS2. 1 Publication1
Natural variantiVAR_072156276H → L in NPHS2. 1 Publication1
Natural variantiVAR_071237281E → A in NPHS2. 1 Publication1
Natural variantiVAR_071238281E → K in NPHS2. 1 Publication1
Natural variantiVAR_075617284A → V in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780761368Ensembl.1
Natural variantiVAR_071239290V → M in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs200482683Ensembl.1
Natural variantiVAR_010236291R → W in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315348Ensembl.1
Natural variantiVAR_071240296E → K in NPHS2. 1 Publication1
Natural variantiVAR_079809297A → V1 PublicationCorresponds to variant dbSNP:rs199506378Ensembl.1
Natural variantiVAR_072157301Missing in NPHS2. 1 Publication1
Natural variantiVAR_071241309A → V in NPHS2. 1 Publication1
Natural variantiVAR_075618310E → K in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_079810310E → V in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071242315T → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072158322R → Q in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs776859868Ensembl.1
Natural variantiVAR_079811328Q → R in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071243333E → G in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866921812Ensembl.1
Natural variantiVAR_072159341P → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1214047676Ensembl.1
Natural variantiVAR_072160370V → G in NPHS2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000499179 – 246Missing in isoform 2. 1 PublicationAdd BLAST68

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ279246
, AJ279247, AJ279248, AJ279249, AJ279250, AJ279251, AJ279252, AJ279253 Genomic DNA Translation: CAB83272.1
AJ279254 mRNA Translation: CAB83216.1
AL160286 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91049.1
CH471067 Genomic DNA Translation: EAW91050.1
BC029141 mRNA Translation: AAH29141.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1331.1 [Q9NP85-1]
CCDS72988.1 [Q9NP85-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001284504.1, NM_001297575.1 [Q9NP85-2]
NP_055440.1, NM_014625.3 [Q9NP85-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367615; ENSP00000356587; ENSG00000116218 [Q9NP85-1]
ENST00000367616; ENSP00000356588; ENSG00000116218 [Q9NP85-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7827

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7827

UCSC genome browser

More...
UCSCi
uc001gmq.5 human [Q9NP85-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ279246
, AJ279247, AJ279248, AJ279249, AJ279250, AJ279251, AJ279252, AJ279253 Genomic DNA Translation: CAB83272.1
AJ279254 mRNA Translation: CAB83216.1
AL160286 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91049.1
CH471067 Genomic DNA Translation: EAW91050.1
BC029141 mRNA Translation: AAH29141.1
CCDSiCCDS1331.1 [Q9NP85-1]
CCDS72988.1 [Q9NP85-2]
RefSeqiNP_001284504.1, NM_001297575.1 [Q9NP85-2]
NP_055440.1, NM_014625.3 [Q9NP85-1]

3D structure databases

SMRiQ9NP85
ModBaseiSearch...

Protein-protein interaction databases

BioGridi113590, 5 interactors
IntActiQ9NP85, 1 interactor
STRINGi9606.ENSP00000356587

Protein family/group databases

TCDBi8.A.21.1.2 the stomatin/podocin/band 7/nephrosis,2/spfh (stomatin) family

PTM databases

iPTMnetiQ9NP85
PhosphoSitePlusiQ9NP85

Polymorphism and mutation databases

BioMutaiNPHS2
DMDMi12230467

Proteomic databases

jPOSTiQ9NP85
MassIVEiQ9NP85
PaxDbiQ9NP85
PeptideAtlasiQ9NP85
PRIDEiQ9NP85
ProteomicsDBi81929 [Q9NP85-1]
81930 [Q9NP85-2]

Genome annotation databases

EnsembliENST00000367615; ENSP00000356587; ENSG00000116218 [Q9NP85-1]
ENST00000367616; ENSP00000356588; ENSG00000116218 [Q9NP85-2]
GeneIDi7827
KEGGihsa:7827
UCSCiuc001gmq.5 human [Q9NP85-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7827
DisGeNETi7827

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NPHS2
HGNCiHGNC:13394 NPHS2
HPAiCAB037267
HPA049486
MalaCardsiNPHS2
MIMi600995 phenotype
604766 gene
neXtProtiNX_Q9NP85
OpenTargetsiENSG00000116218
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
PharmGKBiPA31710

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2621 Eukaryota
COG0330 LUCA
GeneTreeiENSGT00950000182769
HOGENOMiHOG000217040
InParanoidiQ9NP85
KOiK18268
OMAiHRSFTEI
OrthoDBi1062075at2759
PhylomeDBiQ9NP85
TreeFamiTF105750

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NPHS2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NPHS2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7827
PharosiQ9NP85

Protein Ontology

More...
PROi
PR:Q9NP85

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116218 Expressed in 28 organ(s), highest expression level in renal glomerulus
GenevisibleiQ9NP85 HS

Family and domain databases

InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR018080 Band_7/stomatin-like_CS
IPR001972 Stomatin_fam
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
PROSITEiView protein in PROSITE
PS01270 BAND_7, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPODO_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NP85
Secondary accession number(s): B1AM32, B1AM33, Q8N6Q5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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