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UniProtKB - Q9NPG4 (PCD12_HUMAN)

Entry version 161 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Protocadherin-12

Gene

PCDH12

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

Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity).By similarity1 Publication

<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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processCell adhesion
LigandCalcium

<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:
Protocadherin-12Curated
Alternative name(s):
Vascular cadherin-21 Publication
Vascular endothelial cadherin-21 Publication
Short name:
VE-cad-21 Publication
Short name:
VE-cadherin-21 Publication
Cleaved into the following chain:
Protocadherin-12, secreted formCurated
<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:PCDH12Imported
ORF Names:UNQ395/PRO7311 Publication
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8657 PCDH12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605622 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NPG4

<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 domaini25 – 718ExtracellularSequence analysisAdd BLAST694
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei719 – 739HelicalSequence analysisAdd BLAST21
Topological domaini740 – 1184CytoplasmicSequence analysisAdd BLAST445

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Secreted

<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

Microcephaly, seizures, spasticity, and brain calcifications (MISSBC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and severe global developmental delay with profound intellectual disability, spasticity or dystonia. Brain imaging shows intracerebral calcifications.
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_080386147S → I in MISSBC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759794990Ensembl.1
Natural variantiVAR_080387332I → N in MISSBC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146725009Ensembl.1
Natural variantiVAR_080388839 – 1184Missing in MISSBC. 1 PublicationAdd BLAST346
Natural variantiVAR_0803891091G → S in MISSBC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779814208Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		51294

MalaCards human disease database

More...MalaCardsi		PCDH12
MIMi251280 phenotype

Open Targets

More...OpenTargetsi		ENSG00000113555

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

More...Orphaneti		319192 Diencephalic-mesencephalic junction dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32998

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NPG4

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PCDH12

Domain mapping of disease mutations (DMDM)

More...DMDMi		22095989

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<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_000000399625 – 1184Protocadherin-12Add BLAST1160
ChainiPRO_000044404125 – ?Protocadherin-12, secreted form1 Publication

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 and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi415N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi582N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi659N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi662N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei859PhosphoserineBy similarity1
Modified residuei1062PhosphoserineCombined sources1

<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

Protocadherin-12: Cleaved by ADAM10 close to the transmembrane domain to release the Protocadherin-12, secreted form in the serum. Cleavage results in reduced cellular adhesion in a cell migration assay.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NPG4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NPG4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NPG4

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

More...PaxDbi		Q9NPG4

PeptideAtlas

More...PeptideAtlasi		Q9NPG4

PRoteomics IDEntifications database

More...PRIDEi		Q9NPG4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81993

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NPG4

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

More...PhosphoSitePlusi		Q9NPG4

<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

Expressed in highly vascularized tissues including the heart and placenta, but most tissues contain a low level of expression (PubMed:11063261). Prominent expression in the spleen (PubMed:11063261). Present in villous and extravillous trophoblast (at protein level) (PubMed:21402705).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000113555 Expressed in 194 organ(s), highest expression level in tendon of biceps brachii

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NPG4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NPG4 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA051242

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		119445, 19 interactors

Database of interacting proteins

More...DIPi		DIP-47292N

Protein interaction database and analysis system

More...IntActi		Q9NPG4, 19 interactors

Molecular INTeraction database

More...MINTi		Q9NPG4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000231484

<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		Q9NPG4

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini28 – 135Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini136 – 244Cadherin 2PROSITE-ProRule annotationAdd BLAST109
Domaini245 – 352Cadherin 3PROSITE-ProRule annotationAdd BLAST108
Domaini355 – 460Cadherin 4PROSITE-ProRule annotationAdd BLAST106
Domaini461 – 565Cadherin 5PROSITE-ProRule annotationAdd BLAST105
Domaini600 – 711Cadherin 6PROSITE-ProRule annotationAdd BLAST112

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1177 – 1181Poly-Ser5

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3594 Eukaryota
ENOG410XQHI LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160403

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NPG4

KEGG Orthology (KO)

More...KOi		K16499

Identification of Orthologs from Complete Genome Data

More...OMAi		HCWLSQE

Database of Orthologous Groups

More...OrthoDBi		64478at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NPG4

TreeFam database of animal gene trees

More...TreeFami		TF352008

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR013164 Cadherin_N
IPR030720 Protocadherin-12

The PANTHER Classification System

More...PANTHERi		PTHR24028:SF42 PTHR24028:SF42, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00028 Cadherin, 5 hits
PF08266 Cadherin_2, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00205 CADHERIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00112 CA, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49313 SSF49313, 5 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00232 CADHERIN_1, 5 hits
PS50268 CADHERIN_2, 6 hits

<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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9NPG4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMQLLQLLLG LLGPGGYLFL LGDCQEVTTL TVKYQVSEEV PSGTVIGKLS 
        60         70         80         90        100
QELGREERRR QAGAAFQVLQ LPQALPIQVD SEEGLLSTGR RLDREQLCRQ 
       110        120        130        140        150
WDPCLVSFDV LATGDLALIH VEIQVLDIND HQPRFPKGEQ ELEISESASL 
       160        170        180        190        200
RTRIPLDRAL DPDTGPNTLH TYTLSPSEHF ALDVIVGPDE TKHAELIVVK 
       210        220        230        240        250
ELDREIHSFF DLVLTAYDNG NPPKSGTSLV KVNVLDSNDN SPAFAESSLA 
       260        270        280        290        300
LEIQEDAAPG TLLIKLTATD PDQGPNGEVE FFLSKHMPPE VLDTFSIDAK 
       310        320        330        340        350
TGQVILRRPL DYEKNPAYEV DVQARDLGPN PIPAHCKVLI KVLDVNDNIP 
       360        370        380        390        400
SIHVTWASQP SLVSEALPKD SFIALVMADD LDSGHNGLVH CWLSQELGHF 
       410        420        430        440        450
RLKRTNGNTY MLLTNATLDR EQWPKYTLTL LAQDQGLQPL SAKKQLSIQI 
       460        470        480        490        500
SDINDNAPVF EKSRYEVSTR ENNLPSLHLI TIKAHDADLG INGKVSYRIQ 
       510        520        530        540        550
DSPVAHLVAI DSNTGEVTAQ RSLNYEEMAG FEFQVIAEDS GQPMLASSVS 
       560        570        580        590        600
VWVSLLDAND NAPEVVQPVL SDGKASLSVL VNASTGHLLV PIETPNGLGP 
       610        620        630        640        650
AGTDTPPLAT HSSRPFLLTT IVARDADSGA NGEPLYSIRS GNEAHLFILN 
       660        670        680        690        700
PHTGQLFVNV TNASSLIGSE WELEIVVEDQ GSPPLQTRAL LRVMFVTSVD 
       710        720        730        740        750
HLRDSARKPG ALSMSMLTVI CLAVLLGIFG LILALFMSIC RTEKKDNRAY 
       760        770        780        790        800
NCREAESTYR QQPKRPQKHI QKADIHLVPV LRGQAGEPCE VGQSHKDVDK 
       810        820        830        840        850
EAMMEAGWDP CLQAPFHLTP TLYRTLRNQG NQGAPAESRE VLQDTVNLLF 
       860        870        880        890        900
NHPRQRNASR ENLNLPEPQP ATGQPRSRPL KVAGSPTGRL AGDQGSEEAP 
       910        920        930        940        950
QRPPASSATL RRQRHLNGKV SPEKESGPRQ ILRSLVRLSV AAFAERNPVE 
       960        970        980        990       1000
ELTVDSPPVQ QISQLLSLLH QGQFQPKPNH RGNKYLAKPG GSRSAIPDTD 
      1010       1020       1030       1040       1050
GPSARAGGQT DPEQEEGPLD PEEDLSVKQL LEEELSSLLD PSTGLALDRL 
      1060       1070       1080       1090       1100
SAPDPAWMAR LSLPLTTNYR DNVISPDAAA TEEPRTFQTF GKAEAPELSP 
      1110       1120       1130       1140       1150
TGTRLASTFV SEMSSLLEML LEQRSSMPVE AASEALRRLS VCGRTLSLDL 
      1160       1170       1180 
ATSAASGMKV QGDPGGKTGT EGKSRGSSSS SRCL
Length:1,184
Mass (Da):128,995
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:i45314473DC503E8D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RJD4E5RJD4_HUMAN
Protocadherin-12
PCDH12
23Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti385 – 386HN → KD in BAB55016 (PubMed:14702039).Curated2
Sequence conflicti389 – 390VH → LG in BAB55016 (PubMed:14702039).Curated2
Sequence conflicti442A → V in BAB14677 (PubMed:14702039).Curated1
Sequence conflicti753R → W in BAB14677 (PubMed:14702039).Curated1
Sequence conflicti814A → T in BAB14837 (PubMed:14702039).Curated1
Sequence conflicti970H → Y in BAB14837 (PubMed:14702039).Curated1
Sequence conflicti1051S → C in BAB14677 (PubMed:14702039).Curated1
Sequence conflicti1181S → SSSS in BAB14837 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08038555R → G Polymorphism. 1 PublicationCorresponds to variant dbSNP:rs200451693Ensembl.1
Natural variantiVAR_080386147S → I in MISSBC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759794990Ensembl.1
Natural variantiVAR_080387332I → N in MISSBC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146725009Ensembl.1
Natural variantiVAR_020368385H → N1 PublicationCorresponds to variant dbSNP:rs164075EnsemblClinVar.1
Natural variantiVAR_020369640S → N2 PublicationsCorresponds to variant dbSNP:rs164515Ensembl.1
Natural variantiVAR_080388839 – 1184Missing in MISSBC. 1 PublicationAdd BLAST346
Natural variantiVAR_0803891091G → S in MISSBC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779814208Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF231025 mRNA Translation: AAF61931.1
AF240635 mRNA Translation: AAF73962.1
AB026893 mRNA Translation: BAA95162.1
AK023785 mRNA Translation: BAB14677.1
AK024140 mRNA Translation: BAB14837.1
AK027282 mRNA Translation: BAB55016.1
AY358428 mRNA Translation: AAQ88794.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4269.1

NCBI Reference Sequences

More...RefSeqi		NP_057664.1, NM_016580.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000231484; ENSP00000231484; ENSG00000113555

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51294

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51294

UCSC genome browser

More...UCSCi		uc003llx.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231025 mRNA Translation: AAF61931.1
AF240635 mRNA Translation: AAF73962.1
AB026893 mRNA Translation: BAA95162.1
AK023785 mRNA Translation: BAB14677.1
AK024140 mRNA Translation: BAB14837.1
AK027282 mRNA Translation: BAB55016.1
AY358428 mRNA Translation: AAQ88794.1
CCDSiCCDS4269.1
RefSeqiNP_057664.1, NM_016580.3

3D structure databases

SMRiQ9NPG4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119445, 19 interactors
DIPiDIP-47292N
IntActiQ9NPG4, 19 interactors
MINTiQ9NPG4
STRINGi9606.ENSP00000231484

PTM databases

iPTMnetiQ9NPG4
PhosphoSitePlusiQ9NPG4

Polymorphism and mutation databases

BioMutaiPCDH12
DMDMi22095989

Proteomic databases

EPDiQ9NPG4
jPOSTiQ9NPG4
MassIVEiQ9NPG4
PaxDbiQ9NPG4
PeptideAtlasiQ9NPG4
PRIDEiQ9NPG4
ProteomicsDBi81993

Genome annotation databases

EnsembliENST00000231484; ENSP00000231484; ENSG00000113555
GeneIDi51294
KEGGihsa:51294
UCSCiuc003llx.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51294
DisGeNETi51294

GeneCards: human genes, protein and diseases

More...GeneCardsi		PCDH12
HGNCiHGNC:8657 PCDH12
HPAiHPA051242
MalaCardsiPCDH12
MIMi251280 phenotype
605622 gene
neXtProtiNX_Q9NPG4
OpenTargetsiENSG00000113555
Orphaneti319192 Diencephalic-mesencephalic junction dysplasia
PharmGKBiPA32998

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00940000160403
InParanoidiQ9NPG4
KOiK16499
OMAiHCWLSQE
OrthoDBi64478at2759
PhylomeDBiQ9NPG4
TreeFamiTF352008

Miscellaneous databases

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

More...ChiTaRSi		PCDH12 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PCDH12

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

More...GenomeRNAii		51294
PharosiQ9NPG4

Protein Ontology

More...PROi		PR:Q9NPG4

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000113555 Expressed in 194 organ(s), highest expression level in tendon of biceps brachii
ExpressionAtlasiQ9NPG4 baseline and differential
GenevisibleiQ9NPG4 HS

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR013164 Cadherin_N
IPR030720 Protocadherin-12
PANTHERiPTHR24028:SF42 PTHR24028:SF42, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 5 hits
PF08266 Cadherin_2, 1 hit
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 6 hits
SUPFAMiSSF49313 SSF49313, 5 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 5 hits
PS50268 CADHERIN_2, 6 hits

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 nameiPCD12_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: Q9NPG4
Secondary accession number(s): Q6UXB6
, Q96KB8, Q9H7Y6, Q9H8E0
<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: August 2, 2002
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 161 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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