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Entry version 161 (31 Jul 2019)
Sequence version 1 (01 Oct 2003)
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Protein

Notch homolog 2 N-terminal-like protein A

Gene

NOTCH2NLA

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

Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).By similarity3 Publications

<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

GO - Biological processi

<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

Molecular functionDevelopmental protein
Biological processDifferentiation, Notch signaling pathway
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:
Notch homolog 2 N-terminal-like protein A2 Publications
Alternative name(s):
Notch homolog 2 N-terminal-like protein1 Publication
<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:NOTCH2NLA2 PublicationsImported
Synonyms:N2N1 Publication, NOTCH2NLImported
<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

More...
HGNCi
HGNC:31862 NOTCH2NLA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
618023 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z3S9

<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

Keywords - Cellular componenti

Cytoplasm, 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

Defects in NOTCH2NLA may be a cause of chromosome 1q21.1 deletion/duplication syndrome (PubMed:29856954). Deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications (PubMed:29856954).1 Publication

Organism-specific databases

DisGeNET

More...
DisGeNETi
100996717
100996763
388677

Open Targets

More...
OpenTargetsi
ENSG00000264343

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134983899

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NOTCH2NL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74750065

<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_00003371031 – 236Notch homolog 2 N-terminal-like protein AAdd BLAST236

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>Glycosylationi7N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi14 ↔ 23PROSITE-ProRule annotation
Disulfide bondi29 ↔ 40PROSITE-ProRule annotation
Disulfide bondi34 ↔ 51PROSITE-ProRule annotation
Disulfide bondi53 ↔ 62PROSITE-ProRule annotation
Disulfide bondi70 ↔ 82PROSITE-ProRule annotation
Disulfide bondi76 ↔ 92PROSITE-ProRule annotation
Disulfide bondi94 ↔ 103PROSITE-ProRule annotation
Disulfide bondi109 ↔ 120PROSITE-ProRule annotation
Disulfide bondi114 ↔ 129PROSITE-ProRule annotation
Disulfide bondi131 ↔ 140PROSITE-ProRule annotation
Disulfide bondi147 ↔ 159PROSITE-ProRule annotation
Disulfide bondi153 ↔ 168PROSITE-ProRule annotation
Disulfide bondi170 ↔ 179PROSITE-ProRule annotation
Disulfide bondi186 ↔ 197PROSITE-ProRule annotation
Disulfide bondi191 ↔ 207PROSITE-ProRule annotation

<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

Cleaved by ELANE.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q7Z3S9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7Z3S9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7Z3S9

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

More...
PaxDbi
Q7Z3S9

PeptideAtlas

More...
PeptideAtlasi
Q7Z3S9

PRoteomics IDEntifications database

More...
PRIDEi
Q7Z3S9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
69079 [Q7Z3S9-1]
69080 [Q7Z3S9-2]
69081 [Q7Z3S9-3]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q7Z3S9-3 [Q7Z3S9-3]

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q7Z3S9

<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

Widely expressed with higher levels in leukocytes and lymph nodes (PubMed:14673143). Expressed in radial glia neural stem cells during cortical development (PubMed:29856954).2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed at low levels at 7-9 gestational weeks and then increases at later stages, including in the non-cortical plate region at gestational week 21, containing the outer-subventricular zone (PubMed:29856955). Expressed at lower level than NOTCH2NLB (PubMed:29856955).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000264343 Expressed in 91 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7Z3S9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z3S9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004669

<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 ELANE (PubMed:14673143).

Interacts with NOTCH2 (PubMed:29856954).

Interacts with DLL1; the interaction is direct (By similarity).

By similarity2 Publications

<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
Q5BKY63EBI-945833,EBI-10243533
Q9NWL93EBI-945833,EBI-10315054
ACY3Q96HD93EBI-945833,EBI-3916242
ADAMTSL3P829873EBI-945833,EBI-10221726
ADAMTSL5Q6ZMM2-23EBI-945833,EBI-10254938
ADCK5Q3MIX33EBI-945833,EBI-3923548
AESQ081173EBI-945833,EBI-717810
ALDH3B1P433533EBI-945833,EBI-2558314
ALPIP099233EBI-945833,EBI-1052631
AQP1P299725EBI-945833,EBI-745213
AQP5P550643EBI-945833,EBI-746103
ARID3AQ998563EBI-945833,EBI-5458244
ASPSCR1Q9BZE93EBI-945833,EBI-1993677
ATG9AQ7Z3C63EBI-945833,EBI-727146
BCL6BA8KA133EBI-945833,EBI-10174813
BLCAPP629523EBI-945833,EBI-3895726
BMP7A8K5713EBI-945833,EBI-10174327
C11orf87Q6NUJ23EBI-945833,EBI-6660291
C5orf60A6NFR6-43EBI-945833,EBI-10173955
CA6Q8N4G44EBI-945833,EBI-10265475
CARHSP1Q9Y2V25EBI-945833,EBI-718719
CATSPER1Q8NEC55EBI-945833,EBI-744545
CCDC26Q8TAB73EBI-945833,EBI-10271580
CCER1Q8TC905EBI-945833,EBI-746041
CD164Q049005EBI-945833,EBI-2115896
CDK5R1Q8N6193EBI-945833,EBI-10266998
CDK5R1Q8TAM43EBI-945833,EBI-10271838
CERKQ8TCT05EBI-945833,EBI-10274247
CHCHD3Q9NX635EBI-945833,EBI-743375
CHDHQ8NE623EBI-945833,EBI-7127986
CHIC2Q9UKJ55EBI-945833,EBI-741528
CHRDQ9H2X05EBI-945833,EBI-947551
CHRNGP075103EBI-945833,EBI-9008836
CHRNGP07510-25EBI-945833,EBI-11979451
CLDN2P577393EBI-945833,EBI-751440
CLEC18AA5D8T83EBI-945833,EBI-10173491
COL8A1P276585EBI-945833,EBI-747133
CRACR2AQ9BSW23EBI-945833,EBI-739773
CRCT1Q9UGL93EBI-945833,EBI-713677
CREB5Q02930-35EBI-945833,EBI-10192698
CSF1P096033EBI-945833,EBI-2872294
CST2P092285EBI-945833,EBI-8832659
CST9LQ9H4G15EBI-945833,EBI-3923092
CTSGP083113EBI-945833,EBI-5462635
CTSZQ9UBR25EBI-945833,EBI-8636823
CXCL5Q6I9S73EBI-945833,EBI-10249885
DHRS1Q96LJ75EBI-945833,EBI-746300
DMRT3Q9NQL95EBI-945833,EBI-9679045
DNAL4O960153EBI-945833,EBI-742362
DOCK2Q926085EBI-945833,EBI-448771
EFNA3P527973EBI-945833,EBI-722730
EIF4E2O605733EBI-945833,EBI-398610
EPHB6O15197-23EBI-945833,EBI-10182490
FAAHO005193EBI-945833,EBI-1389829
FAM124BQ9H5Z63EBI-945833,EBI-741626
FAM71CQ8NEG05EBI-945833,EBI-752049
FAM74A6Q5TZK35EBI-945833,EBI-10247271
FARS2O953633EBI-945833,EBI-2513774
FASLGP480233EBI-945833,EBI-495538
FBXL18Q96D163EBI-945833,EBI-744419
FBXW5Q969U65EBI-945833,EBI-741068
FOXB1Q998533EBI-945833,EBI-3916225
FRS3O435595EBI-945833,EBI-725515
GABRDO147643EBI-945833,EBI-744352
GATA2P237693EBI-945833,EBI-2806671
GEMP550403EBI-945833,EBI-744104
GFOD1Q9NXC23EBI-945833,EBI-8799578
GIPP096813EBI-945833,EBI-8588553
GLP1RP432205EBI-945833,EBI-7466542
GLRX3O760033EBI-945833,EBI-374781
GLYATQ6IB773EBI-945833,EBI-715463
GNAI2P048993EBI-945833,EBI-353997
GNEQ9Y2233EBI-945833,EBI-4291090
GSTP1P092115EBI-945833,EBI-353467
GTF3C5Q9Y5Q83EBI-945833,EBI-1045409
HBZP020085EBI-945833,EBI-719843
HCKP086313EBI-945833,EBI-346340
HEL-S-182mPV9HW603EBI-945833,EBI-10180762
HEL-S-90nV9HWJ53EBI-945833,EBI-10330335
HIST1H2AKA4FTV93EBI-945833,EBI-10173457
HOXA1P496395EBI-945833,EBI-740785
HPCAL1P372355EBI-945833,EBI-749311
HSBP1O755063EBI-945833,EBI-748664
HSD3B7Q9H2F33EBI-945833,EBI-3918847
HSPA12BQ96MM65EBI-945833,EBI-10291310
HSPBP1Q9NZL43EBI-945833,EBI-356763
HSPD1P108093EBI-945833,EBI-352528
ICAM4Q14773-35EBI-945833,EBI-10233928
IFI30P132843EBI-945833,EBI-2868897
IL2RGP317853EBI-945833,EBI-80475
INPP5DQ928353EBI-945833,EBI-1380477
ITGB2P051078EBI-945833,EBI-300173
ITGB5L7RT223EBI-945833,EBI-10178729
JOSD1Q150405EBI-945833,EBI-2510602
KCTD15Q96SI13EBI-945833,EBI-715783
KLHL38Q2WGJ65EBI-945833,EBI-6426443
KLK8O602595EBI-945833,EBI-3915857
KRT20P359003EBI-945833,EBI-742094
KRT83P783855EBI-945833,EBI-10221390
KRTAP10-11P604123EBI-945833,EBI-10217483
KRTAP10-5P603705EBI-945833,EBI-10172150
KRTAP10-7P604093EBI-945833,EBI-10172290
KRTAP10-8P604105EBI-945833,EBI-10171774
KRTAP10-9P604115EBI-945833,EBI-10172052
KRTAP12-2P599915EBI-945833,EBI-10176379
KRTAP12-4P603295EBI-945833,EBI-10176396
KRTAP13-3Q3SY465EBI-945833,EBI-10241252
KRTAP26-1Q6PEX35EBI-945833,EBI-3957672
KRTAP3-1Q9BYR83EBI-945833,EBI-9996449
KRTAP4-11Q9BYQ65EBI-945833,EBI-10302392
KRTAP4-12Q9BQ663EBI-945833,EBI-739863
KRTAP4-2Q9BYR55EBI-945833,EBI-10172511
KRTAP4-7Q9BYR03EBI-945833,EBI-10302547
KRTAP5-6Q6L8G95EBI-945833,EBI-10250562
KRTAP5-9P263715EBI-945833,EBI-3958099
KRTAP9-2Q9BYQ45EBI-945833,EBI-1044640
KRTAP9-4Q9BYQ23EBI-945833,EBI-10185730
LCE1BQ5T7P35EBI-945833,EBI-10245913
LCE2DQ5TA825EBI-945833,EBI-10246750
LCE3CQ5T5A85EBI-945833,EBI-10245291
LCE3EQ5T5B05EBI-945833,EBI-10245456
LIMS2Q7Z4I7-53EBI-945833,EBI-10257651
LIN7AO149103EBI-945833,EBI-2513988
LINC00526Q96FQ75EBI-945833,EBI-10286106
LMO2P257913EBI-945833,EBI-739696
LNX1Q8TBB15EBI-945833,EBI-739832
LOC200261Q17RD93EBI-945833,EBI-10239007
LONRF3Q496Y03EBI-945833,EBI-2690768
LRCH4O754273EBI-945833,EBI-718707
LRFN4Q6PJG95EBI-945833,EBI-7910762
MAPKBP1O603365EBI-945833,EBI-947402
MARK4Q6IPE93EBI-945833,EBI-10250211
MATN3O152323EBI-945833,EBI-6262458
MELTFP08582-25EBI-945833,EBI-10195914
MGC13033Q4ZG743EBI-945833,EBI-10241963
MRGBPQ9NV565EBI-945833,EBI-399076
MRPL40Q9NQ505EBI-945833,EBI-1053902
MTA1Q133305EBI-945833,EBI-714236
MXD3Q9BW115EBI-945833,EBI-741574
MXI1P50539-35EBI-945833,EBI-10211940
NAB2Q157423EBI-945833,EBI-8641936
NAXDQ8IW453EBI-945833,EBI-8650724
NECTIN2Q926923EBI-945833,EBI-718419
NECTIN3Q9NQS33EBI-945833,EBI-2826725
NEU2Q9Y3R46EBI-945833,EBI-10327976
NMUP486455EBI-945833,EBI-10210351
NPBWR2P481463EBI-945833,EBI-10210114
NPDC1Q9NQX55EBI-945833,EBI-748927
NPPBP168603EBI-945833,EBI-747044
NR1D2Q6NSM05EBI-945833,EBI-10250949
NUBP2Q9Y5Y23EBI-945833,EBI-1048886
P2RX4Q995715EBI-945833,EBI-2828248
PCED1AQ9H1Q73EBI-945833,EBI-748452
PCED1BQ96HM73EBI-945833,EBI-1222622
PCSK5Q928243EBI-945833,EBI-751290
PDE9AO760833EBI-945833,EBI-742764
PID1Q7Z2X43EBI-945833,EBI-10256685
PIGSQ96S525EBI-945833,EBI-2908273
PLPP2O436883EBI-945833,EBI-722017
PLSCR4Q9NRQ23EBI-945833,EBI-769257
POMGNT2Q8NAT13EBI-945833,EBI-10269044
PRKAA2P546463EBI-945833,EBI-1383852
PRPF31Q8WWY36EBI-945833,EBI-1567797
PRPS2P119083EBI-945833,EBI-4290895
PSMA1P257865EBI-945833,EBI-359352
PSMG2Q969U73EBI-945833,EBI-723276
PTGER3P43115-123EBI-945833,EBI-10234038
PTPMT1Q8WUK05EBI-945833,EBI-7199479
PTPN23Q9H3S73EBI-945833,EBI-724478
PVRP151515EBI-945833,EBI-3919694
R3HDM2Q9Y2K5-23EBI-945833,EBI-10326419
RAB3IL1Q8TBN05EBI-945833,EBI-743796
RAMP3O608965EBI-945833,EBI-720447
RCHY1Q96PM53EBI-945833,EBI-947779
RECKQ6P9E25EBI-945833,EBI-10253121
RETP079493EBI-945833,EBI-2480756
RETP07949-23EBI-945833,EBI-4423689
RGL2O152113EBI-945833,EBI-712355
RPS28P628573EBI-945833,EBI-353027
RTN4RL1Q86UN25EBI-945833,EBI-10258951
RYDENQ9NUL53EBI-945833,EBI-10313866
SCNM1Q9BWG65EBI-945833,EBI-748391
SDCBPO005603EBI-945833,EBI-727004
SELENOMQ8WWX93EBI-945833,EBI-10277687
SEMA4CQ9C0C45EBI-945833,EBI-10303490
SLC22A23A1A5C73EBI-945833,EBI-10171756
SLC23A1Q9UHI73EBI-945833,EBI-1759386
SLC25A10Q9UBX33EBI-945833,EBI-750394
SLC25A6P122363EBI-945833,EBI-356254
SLC6A20Q9NP915EBI-945833,EBI-10311198
SMARCE1Q969G33EBI-945833,EBI-455078
SMCPP499015EBI-945833,EBI-750494
SMOC1Q9H4F83EBI-945833,EBI-2801103
SNAI1O958633EBI-945833,EBI-1045459
SPATA8Q6RVD65EBI-945833,EBI-8635958
SPG7Q9UQ905EBI-945833,EBI-717201
SPINK2P201553EBI-945833,EBI-10200479
SPRY1O436095EBI-945833,EBI-3866665
STK16O757165EBI-945833,EBI-749295
TBC1D10CQ8IV043EBI-945833,EBI-10261452
TEDC2Q7L2K03EBI-945833,EBI-8465456
THAP7Q9BT495EBI-945833,EBI-741350
THEMIS2Q5TEJ83EBI-945833,EBI-2806032
TINAGL1Q9GZM7-33EBI-945833,EBI-10303636
TMEM150AQ86TG15EBI-945833,EBI-2799342
TMEM231Q9H6L23EBI-945833,EBI-10307654
TMEM41AQ96HV53EBI-945833,EBI-10288884
TNIP3Q96KP65EBI-945833,EBI-2509913
TNK2Q079123EBI-945833,EBI-603457
TNP2Q4VB563EBI-945833,EBI-10241829
TRIM27P143733EBI-945833,EBI-719493
TRIM42Q8IWZ58EBI-945833,EBI-5235829
TRPV6Q9Y2603EBI-945833,EBI-750052
TSPAN4O148175EBI-945833,EBI-8652667
TXNDC5Q86UY05EBI-945833,EBI-2825190
UTP23Q9BRU95EBI-945833,EBI-5457544
UXTQ9UBK95EBI-945833,EBI-357355
WDR25Q64LD23EBI-945833,EBI-744560
WT1-ASQ062505EBI-945833,EBI-10223946
XCL2Q9UBD33EBI-945833,EBI-10319095
YIPF3Q9GZM53EBI-945833,EBI-743787
ZFYVE21Q9BQ243EBI-945833,EBI-2849569
ZNF124Q159734EBI-945833,EBI-2555767
ZNF32P170413EBI-945833,EBI-1965483
ZNF417Q8TAU35EBI-945833,EBI-740727
ZNF439Q8NDP43EBI-945833,EBI-747580
ZNF440Q8IYI85EBI-945833,EBI-726439
ZNF446Q9NWS9-25EBI-945833,EBI-740232
ZNF581Q9P0T45EBI-945833,EBI-745520
ZNF587Q96SQ55EBI-945833,EBI-6427977
ZNF688A0A0S2Z5X43EBI-945833,EBI-16429014

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
132802, 247 interactors

Database of interacting proteins

More...
DIPi
DIP-47315N

Protein interaction database and analysis system

More...
IntActi
Q7Z3S9, 357 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000464060

<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
Q7Z3S9

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>Domaini1 – 24EGF-like 1PROSITE-ProRule annotationAdd BLAST24
Domaini25 – 63EGF-like 2PROSITE-ProRule annotationAdd BLAST39
Domaini66 – 104EGF-like 3PROSITE-ProRule annotationAdd BLAST39
Domaini105 – 141EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini143 – 180EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini182 – 219EGF-like 6PROSITE-ProRule annotationAdd BLAST38

<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 NOTCH family.Curated

Keywords - Domaini

EGF-like domain, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
ENOG410XP6K LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000167308

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z3S9

Identification of Orthologs from Complete Genome Data

More...
OMAi
CNHASGG

Database of Orthologous Groups

More...
OrthoDBi
1033311at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7Z3S9

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 3 hits
PF07645 EGF_CA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 5 hits
PS01186 EGF_2, 5 hits
PS50026 EGF_3, 6 hits
PS01187 EGF_CA, 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 (3)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 3 <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: Q7Z3S9-1) [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
MCVTYHNGTG YCKCPEGFLG EYCQHRDPCE KNRCQNGGTC VAQAMLGKAT
60 70 80 90 100
CRCASGFTGE DCQYSTSHPC FVSRPCLNGG TCHMLSRDTY ECTCQVGFTG
110 120 130 140 150
KECQWTDACL SHPCANGSTC TTVANQFSCK CLTGFTGQKC ETDVNECDIP
160 170 180 190 200
GHCQHGGTCL NLPGSYQCQC LQGFTGQYCD SLYVPCAPSP CVNGGTCRQT
210 220 230
GDFTFECNCL PETVRRGTEL WERDREVWNG KEHDEN
Length:236
Mass (Da):25,835
Last modified:October 1, 2003 - 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:i2DF01880A22814C9
GO
Isoform 2 (identifier: Q7Z3S9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-236: ETVRRGTELWERDREVWNGKEHDEN → ATWPIFPKLLSLQEKESYC

Note: No experimental confirmation available.
Show »
Length:230
Mass (Da):24,947
Checksum:i20FEA84A26A5D539
GO
Isoform 3 (identifier: Q7Z3S9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCRDGYEPCVNEGM

Show »
Length:249
Mass (Da):27,289
Checksum:i960F7D405055C9FC
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH84572 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC11381 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti19L → S in BAC11381 (PubMed:14702039).Curated1

Natural variant

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_04360167S → P. Corresponds to variant dbSNP:rs10910779Ensembl.1
Natural variantiVAR_043602158T → I1 PublicationCorresponds to variant dbSNP:rs8002Ensembl.1
Natural variantiVAR_043603196T → S. Corresponds to variant dbSNP:rs4649852Ensembl.1
Natural variantiVAR_043604226E → Q. Corresponds to variant dbSNP:rs1053710Ensembl.1

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_0338951M → MCRDGYEPCVNEGM in isoform 3. 1 Publication1
Alternative sequenceiVSP_033896212 – 236ETVRR…EHDEN → ATWPIFPKLLSLQEKESYC in isoform 2. 1 PublicationAdd BLAST25

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
AK075065 mRNA Translation: BAC11381.1 Different initiation.
BX537434 mRNA Translation: CAD97676.1
AL592307 Genomic DNA Translation: CAH73993.1
AL592307 Genomic DNA Translation: CAH73994.1
BC010154 mRNA Translation: AAH10154.3
BC019835 mRNA Translation: AAH19835.1
BC065219 mRNA Translation: AAH65219.2
BC084572 mRNA Translation: AAH84572.1 Different initiation.
BC090943 mRNA Translation: AAH90943.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS72880.1 [Q7Z3S9-1]

NCBI Reference Sequences

More...
RefSeqi
NP_982283.2, NM_203458.4 [Q7Z3S9-1]
XP_006711766.1, XM_006711703.3
XP_006726418.1, XM_006726355.3
XP_016855384.1, XM_016999895.1
XP_016855385.1, XM_016999896.1
XP_016855386.1, XM_016999897.1
XP_016855387.1, XM_016999898.1
XP_016858537.1, XM_017003048.1 [Q7Z3S9-1]
XP_016858538.1, XM_017003049.1 [Q7Z3S9-1]
XP_016858539.1, XM_017003050.1 [Q7Z3S9-1]
XP_016858540.1, XM_017003051.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000362074; ENSP00000354929; ENSG00000264343 [Q7Z3S9-1]
ENST00000579793; ENSP00000476330; ENSG00000264343 [Q7Z3S9-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
100996717
100996763
388677

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:388677

UCSC genome browser

More...
UCSCi
uc031utx.2 human [Q7Z3S9-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AK075065 mRNA Translation: BAC11381.1 Different initiation.
BX537434 mRNA Translation: CAD97676.1
AL592307 Genomic DNA Translation: CAH73993.1
AL592307 Genomic DNA Translation: CAH73994.1
BC010154 mRNA Translation: AAH10154.3
BC019835 mRNA Translation: AAH19835.1
BC065219 mRNA Translation: AAH65219.2
BC084572 mRNA Translation: AAH84572.1 Different initiation.
BC090943 mRNA Translation: AAH90943.1
CCDSiCCDS72880.1 [Q7Z3S9-1]
RefSeqiNP_982283.2, NM_203458.4 [Q7Z3S9-1]
XP_006711766.1, XM_006711703.3
XP_006726418.1, XM_006726355.3
XP_016855384.1, XM_016999895.1
XP_016855385.1, XM_016999896.1
XP_016855386.1, XM_016999897.1
XP_016855387.1, XM_016999898.1
XP_016858537.1, XM_017003048.1 [Q7Z3S9-1]
XP_016858538.1, XM_017003049.1 [Q7Z3S9-1]
XP_016858539.1, XM_017003050.1 [Q7Z3S9-1]
XP_016858540.1, XM_017003051.1

3D structure databases

SMRiQ7Z3S9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi132802, 247 interactors
DIPiDIP-47315N
IntActiQ7Z3S9, 357 interactors
STRINGi9606.ENSP00000464060

Polymorphism and mutation databases

BioMutaiNOTCH2NL
DMDMi74750065

Proteomic databases

EPDiQ7Z3S9
jPOSTiQ7Z3S9
MaxQBiQ7Z3S9
PaxDbiQ7Z3S9
PeptideAtlasiQ7Z3S9
PRIDEiQ7Z3S9
ProteomicsDBi69079 [Q7Z3S9-1]
69080 [Q7Z3S9-2]
69081 [Q7Z3S9-3]
TopDownProteomicsiQ7Z3S9-3 [Q7Z3S9-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
388677
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000362074; ENSP00000354929; ENSG00000264343 [Q7Z3S9-1]
ENST00000579793; ENSP00000476330; ENSG00000264343 [Q7Z3S9-2]
GeneIDi100996717
100996763
388677
KEGGihsa:388677
UCSCiuc031utx.2 human [Q7Z3S9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
100996717
100996763
388677
DisGeNETi100996717
100996763
388677

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NOTCH2NL
HGNCiHGNC:31862 NOTCH2NLA
HPAiCAB004669
MIMi618023 gene
neXtProtiNX_Q7Z3S9
OpenTargetsiENSG00000264343
PharmGKBiPA134983899

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00940000167308
InParanoidiQ7Z3S9
OMAiCNHASGG
OrthoDBi1033311at2759
PhylomeDBiQ7Z3S9

Miscellaneous databases

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

More...
ChiTaRSi
NOTCH2NL human
PMAP-CutDBiQ7Z3S9

Protein Ontology

More...
PROi
PR:Q7Z3S9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000264343 Expressed in 91 organ(s), highest expression level in testis
ExpressionAtlasiQ7Z3S9 baseline and differential
GenevisibleiQ7Z3S9 HS

Family and domain databases

InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
PfamiView protein in Pfam
PF00008 EGF, 3 hits
PF07645 EGF_CA, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 4 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 5 hits
PS01186 EGF_2, 5 hits
PS50026 EGF_3, 6 hits
PS01187 EGF_CA, 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 nameiNT2NA_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: Q7Z3S9
Secondary accession number(s): Q5BKT8
, Q5VTG9, Q5XG84, Q6P192, Q8NC23, Q8WUQ9, Q96FY1
<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: May 20, 2008
Last sequence update: October 1, 2003
Last modified: July 31, 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
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