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Entry version 12 (17 Jun 2020)
Sequence version 1 (12 Sep 2018)
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Protein

Notch homolog 2 N-terminal-like protein C

Gene

NOTCH2NLC

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

Miscellaneous

NOTCH2NLA, NOTCH2NLB and NOTCH2NLC paralogs arose between 4 and 3 million years ago, after the separation of hominids from the chimpanzee and during the early stages of the expansion of the human cortex.1 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

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

Biological processNotch 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%5Fand%5Ftaxonomy%5Fsection">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 C2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NOTCH2NLC2 PublicationsImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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:53924 NOTCH2NLC

Online Mendelian Inheritance in Man (OMIM)

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MIMi
618025 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P0DPK4

<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

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

Neuronal intranuclear inclusion disease (NIID)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. The molecular defect in NOTCH2NLC is a CGG repeat expansion in the 5-prime untranslated region of the gene. The expansion can be greater than one hundred repeat units in patients, while healthy individuals have 5 to 43 repeats.3 Publications
Disease descriptionAn autosomal dominant, slowly progressive, neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. Clinical manifestations are variable and include pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction.
Related information in OMIM
Defects in NOTCH2NLC 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

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

MalaCards human disease database

More...
MalaCardsi
NOTCH2NLC
MIMi603472 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000264343

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

More...
Orphaneti
2289 Neuronal intranuclear inclusion disease

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00004450711 – 236Notch homolog 2 N-terminal-like protein CAdd BLAST236

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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
Glycosylationi116N-linked (GlcNAc...) asparagineSequence analysis1
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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P0DPK4

PeptideAtlas

More...
PeptideAtlasi
P0DPK4

<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 radial glia neural stem cells during cortical development.1 Publication

<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 very low level during corticogenesis.1 Publication

Gene expression databases

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P0DPK4 baseline and differential

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NOTCH2 (PubMed:29856954).

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

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P0DPK4
With#Exp.IntAct
ADAM12 - isoform 4 [O43184-4]3EBI-22310682,EBI-12006944
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-22310682,EBI-10173507
AGXT [P21549]3EBI-22310682,EBI-727098
ALDH16A1 [Q8IZ83]3EBI-22310682,EBI-1044483
ALPP [P05187]3EBI-22310682,EBI-1211484
ANKS1A [Q49AR9]3EBI-22310682,EBI-11954519
AQP1 [P29972]3EBI-22310682,EBI-745213
ATG9A - isoform 3 [Q7Z3C6-3]3EBI-22310682,EBI-12006308
ATP5F1D [P30049]3EBI-22310682,EBI-1049505
BCAM [P50895]3EBI-22310682,EBI-10212133
BMP7 [P18075]3EBI-22310682,EBI-1035195
C19orf57 - isoform 2 [Q0VDD7-2]3EBI-22310682,EBI-12040255
CARHSP1 [Q9Y2V2]3EBI-22310682,EBI-718719
CATSPER1 [Q8NEC5]3EBI-22310682,EBI-744545
CCER1 [Q8TC90]3EBI-22310682,EBI-746041
CD164 [Q04900]3EBI-22310682,EBI-2115896
CELF5 [Q8N6W0]3EBI-22310682,EBI-12139335
CERK [Q8TCT0]3EBI-22310682,EBI-10274247
CHCHD3 [Q9NX63]3EBI-22310682,EBI-743375
CHIC2 [Q9UKJ5]3EBI-22310682,EBI-741528
CHRD [Q9H2X0]3EBI-22310682,EBI-947551
CHRNG - isoform 2 [P07510-2]3EBI-22310682,EBI-11979451
CNNM3 [Q8NE01]3EBI-22310682,EBI-741032
COL8A1 [P27658]5EBI-22310682,EBI-747133
CREB5 - isoform 3 [Q02930-3]3EBI-22310682,EBI-10192698
CRH [P06850]3EBI-22310682,EBI-3870390
CRY2 [Q49AN0]3EBI-22310682,EBI-2212355
CST2 [P09228]3EBI-22310682,EBI-8832659
CST9L [Q9H4G1]3EBI-22310682,EBI-3923092
CTNNBIP1 [Q9NSA3]3EBI-22310682,EBI-747082
CTSZ [Q9UBR2]3EBI-22310682,EBI-8636823
CYHR1 - isoform 3 [Q6ZMK1-3]3EBI-22310682,EBI-11997340
CYP21A2 [Q08AG9]3EBI-22310682,EBI-14156412
CYSRT1 [A8MQ03]3EBI-22310682,EBI-3867333
DAGLB [Q8NCG7]3EBI-22310682,EBI-721948
DALRD3 - isoform 2 [Q5D0E6-2]3EBI-22310682,EBI-9090939
DBH [P09172]3EBI-22310682,EBI-8589586
DGKQ [P52824]3EBI-22310682,EBI-4401238
DHRS1 [Q96LJ7]3EBI-22310682,EBI-746300
DMRT3 [Q9NQL9]3EBI-22310682,EBI-9679045
DOCK2 [Q92608]3EBI-22310682,EBI-448771
DRD5 [P21918]3EBI-22310682,EBI-12139313
EMC7 [Q9NPA0]3EBI-22310682,EBI-6309137
F10 [P00742]3EBI-22310682,EBI-719750
FADS2 - isoform 3 [O95864-3]3EBI-22310682,EBI-12057609
FAM221A [A4D161]3EBI-22310682,EBI-11960181
FAM71C [Q8NEG0]3EBI-22310682,EBI-752049
FAM90A1 [Q86YD7]3EBI-22310682,EBI-6658203
FBXW5 [Q969U6]3EBI-22310682,EBI-741068
FRS3 [O43559]3EBI-22310682,EBI-725515
FTHL17 [Q9BXU8]3EBI-22310682,EBI-12156897
FZD10 [Q9ULW2]3EBI-22310682,EBI-8803802
GLP1R [P43220]3EBI-22310682,EBI-7466542
GLYAT - isoform 2 [Q6IB77-2]3EBI-22310682,EBI-12142423
GNE - isoform 2 [Q9Y223-2]3EBI-22310682,EBI-11975289
GSTP1 [P09211]3EBI-22310682,EBI-353467
HAPLN2 [Q9GZV7]3EBI-22310682,EBI-11956675
HBA2 [P69905]3EBI-22310682,EBI-714680
HBZ [P02008]3EBI-22310682,EBI-719843
hCG_1987119 [A0A024R8L2]3EBI-22310682,EBI-14103818
HCK - isoform 2 [P08631-2]3EBI-22310682,EBI-9834454
HHEX [Q03014]3EBI-22310682,EBI-747421
HOXA1 [P49639]3EBI-22310682,EBI-740785
HOXB9 [P17482]3EBI-22310682,EBI-745290
HOXC8 [P31273]3EBI-22310682,EBI-1752118
HPCAL1 [P37235]3EBI-22310682,EBI-749311
HSPA12B [Q96MM6]3EBI-22310682,EBI-10291310
ICAM4 - isoform 3 [Q14773-3]3EBI-22310682,EBI-10233928
IL10 [P22301]3EBI-22310682,EBI-1031632
INO80B [Q9C086]3EBI-22310682,EBI-715611
INS [P01308]3EBI-22310682,EBI-7090529
ITGB2 [P05107]3EBI-22310682,EBI-300173
ITGB4 - isoform Beta-4A [P16144-2]3EBI-22310682,EBI-11051601
ITGB5 [P18084]3EBI-22310682,EBI-1223434
JOSD1 [Q15040]3EBI-22310682,EBI-2510602
KCNS2 [Q9ULS6]3EBI-22310682,EBI-10323864
KCTD15 - isoform 2 [Q96SI1-2]3EBI-22310682,EBI-12382297
KLHL38 [Q2WGJ6]3EBI-22310682,EBI-6426443
KLK8 [O60259]3EBI-22310682,EBI-3915857
KPRP [Q5T749]3EBI-22310682,EBI-10981970
KRT83 [P78385]3EBI-22310682,EBI-10221390
KRTAP10-10 [P60014]3EBI-22310682,EBI-11955579
KRTAP10-5 [P60370]3EBI-22310682,EBI-10172150
KRTAP10-8 [P60410]3EBI-22310682,EBI-10171774
KRTAP10-9 [P60411]3EBI-22310682,EBI-10172052
KRTAP12-1 [P59990]3EBI-22310682,EBI-10210845
KRTAP12-2 [P59991]3EBI-22310682,EBI-10176379
KRTAP12-3 [P60328]3EBI-22310682,EBI-11953334
KRTAP12-4 [P60329]3EBI-22310682,EBI-10176396
KRTAP13-2 [Q52LG2]3EBI-22310682,EBI-11953846
KRTAP13-3 [Q3SY46]3EBI-22310682,EBI-10241252
KRTAP13-4 [Q3LI77]3EBI-22310682,EBI-11953996
KRTAP2-4 [Q9BYR9]3EBI-22310682,EBI-14065470
KRTAP26-1 [Q6PEX3]3EBI-22310682,EBI-3957672
KRTAP4-11 [Q9BYQ6]3EBI-22310682,EBI-10302392
KRTAP4-2 [Q9BYR5]3EBI-22310682,EBI-10172511
KRTAP4-4 [Q9BYR3]4EBI-22310682,EBI-11958132
KRTAP4-5 [Q9BYR2]3EBI-22310682,EBI-11993254
KRTAP5-11 [Q6L8G4]3EBI-22310682,EBI-11993296
KRTAP5-3 [Q6L8H2]3EBI-22310682,EBI-11974251
KRTAP5-4 [Q6L8H1]3EBI-22310682,EBI-11963072
KRTAP5-6 [Q6L8G9]3EBI-22310682,EBI-10250562
KRTAP5-9 [P26371]3EBI-22310682,EBI-3958099
KRTAP9-2 [Q9BYQ4]3EBI-22310682,EBI-1044640
KRTAP9-3 [Q9BYQ3]3EBI-22310682,EBI-1043191
KRTAP9-8 [Q9BYQ0]3EBI-22310682,EBI-11958364
LCE1A [Q5T7P2]3EBI-22310682,EBI-11962058
LCE1B [Q5T7P3]3EBI-22310682,EBI-10245913
LCE1D [Q5T752]3EBI-22310682,EBI-11741311
LCE1E [Q5T753]3EBI-22310682,EBI-11955335
LCE1F [Q5T754]3EBI-22310682,EBI-11958008
LCE2B [O14633]4EBI-22310682,EBI-11478468
LCE2C [Q5TA81]3EBI-22310682,EBI-11973993
LCE2D [Q5TA82]3EBI-22310682,EBI-10246750
LCE3A [Q5TA76]3EBI-22310682,EBI-9394625
LCE3C [Q5T5A8]3EBI-22310682,EBI-10245291
LCE3D [Q9BYE3]3EBI-22310682,EBI-6658837
LCE3E [Q5T5B0]3EBI-22310682,EBI-10245456
LCE4A [Q5TA78]3EBI-22310682,EBI-10246358
LCE5A [Q5TCM9]3EBI-22310682,EBI-11955689
LMNTD2 [Q8IXW0]3EBI-22310682,EBI-12028858
LNX1 [Q8TBB1]3EBI-22310682,EBI-739832
LRFN4 [Q6PJG9]3EBI-22310682,EBI-7910762
LYVE1 [Q9Y5Y7]3EBI-22310682,EBI-10329546
MACO1 [Q8N5G2]3EBI-22310682,EBI-2683507
MAP11 [Q8WVR3]3EBI-22310682,EBI-719893
MAPKBP1 [O60336]3EBI-22310682,EBI-947402
MELTF - isoform 2 [P08582-2]3EBI-22310682,EBI-10195914
MFSD13A [Q14CX5]3EBI-22310682,EBI-12120958
MOS [P00540]3EBI-22310682,EBI-1757866
MRGBP [Q9NV56]3EBI-22310682,EBI-399076
MRPL40 [Q9NQ50]3EBI-22310682,EBI-1053902
MTA1 [Q13330]3EBI-22310682,EBI-714236
MXD3 [Q9BW11]3EBI-22310682,EBI-741574
MXI1 - isoform 3 [P50539-3]3EBI-22310682,EBI-10211940
MYPOP [Q86VE0]3EBI-22310682,EBI-2858213
NECTIN2 - isoform Alpha [Q92692-2]3EBI-22310682,EBI-6979889
NECTIN3 - isoform 2 [Q9NQS3-2]3EBI-22310682,EBI-12106440
NEDD9 - isoform 2 [Q14511-2]3EBI-22310682,EBI-11746523
NMU [P48645]3EBI-22310682,EBI-10210351
NPDC1 [Q9NQX5]3EBI-22310682,EBI-748927
NR1D2 [Q6NSM0]3EBI-22310682,EBI-10250949
NTM - isoform 3 [Q9P121-3]3EBI-22310682,EBI-12027160
NTN4 [Q9HB63]3EBI-22310682,EBI-743459
OLFM2 [O95897]3EBI-22310682,EBI-721741
OTX1 [P32242]3EBI-22310682,EBI-740446
P2RX4 [Q99571]3EBI-22310682,EBI-2828248
P2RX7 [Q99572]3EBI-22310682,EBI-1753251
P2RY6 [Q15077]3EBI-22310682,EBI-10235794
PCSK5 - isoform PC6A [Q92824-2]3EBI-22310682,EBI-11956269
PHLDA1 [A2BDE7]3EBI-22310682,EBI-14084211
PIGS [Q96S52]3EBI-22310682,EBI-2908273
PLEKHN1 - isoform 3 [Q494U1-3]3EBI-22310682,EBI-12014286
PRF1 [P14222]3EBI-22310682,EBI-724466
PRR35 [P0CG20]3EBI-22310682,EBI-11986293
PSMA1 [P25786]3EBI-22310682,EBI-359352
PTK7 [Q13308]3EBI-22310682,EBI-2803245
PTPMT1 [Q8WUK0]3EBI-22310682,EBI-7199479
PVR [P15151]3EBI-22310682,EBI-3919694
R3HDM2 [Q9Y2K5]3EBI-22310682,EBI-948428
RAB3IL1 [Q8TBN0]3EBI-22310682,EBI-743796
RAMP3 [O60896]3EBI-22310682,EBI-720447
RASD1 [Q9Y272]3EBI-22310682,EBI-740818
RECK [Q6P9E2]3EBI-22310682,EBI-10253121
RPS19BP1 [Q86WX3]3EBI-22310682,EBI-4479407
RTN4RL1 [Q86UN2]3EBI-22310682,EBI-10258951
SCNM1 [Q9BWG6]3EBI-22310682,EBI-748391
SEMA3B - isoform 2 [Q13214-2]3EBI-22310682,EBI-11017428
SEMA4C [Q9C0C4]3EBI-22310682,EBI-10303490
SHFL - isoform 4 [Q9NUL5-4]3EBI-22310682,EBI-11955083
SLC22A5 [O76082]3EBI-22310682,EBI-9846338
SLC23A1 - isoform 3 [Q9UHI7-3]3EBI-22310682,EBI-11998660
SLC43A2 [Q8N370]3EBI-22310682,EBI-10265149
SLC5A5 [Q92911]3EBI-22310682,EBI-12313867
SLC6A20 [Q9NP91]3EBI-22310682,EBI-10311198
SMCP [P49901]3EBI-22310682,EBI-750494
SPATA24 - isoform 2 [Q86W54-2]3EBI-22310682,EBI-12041693
SPATA8 [Q6RVD6]3EBI-22310682,EBI-8635958
SPG7 [Q9UQ90]3EBI-22310682,EBI-717201
SPPL2C [Q8IUH8]3EBI-22310682,EBI-14064968
SPRY1 [O43609]3EBI-22310682,EBI-3866665
STAC [Q99469]3EBI-22310682,EBI-2652799
STK16 [O75716]3EBI-22310682,EBI-749295
TAPBPL [Q9BX59]3EBI-22310682,EBI-12017416
TCAF1 - isoform 2 [Q9Y4C2-2]3EBI-22310682,EBI-11974855
THAP7 [Q9BT49]3EBI-22310682,EBI-741350
TLE5 - isoform 2 [Q08117-2]3EBI-22310682,EBI-11741437
TMEFF2 [Q9UIK5]3EBI-22310682,EBI-11423693
TMEM150A [Q86TG1]3EBI-22310682,EBI-2799342
TMEM8A [Q9HCN3]3EBI-22310682,EBI-10310808
TNIP3 [Q96KP6]3EBI-22310682,EBI-2509913
TNS2 [Q63HR2]3EBI-22310682,EBI-949753
TRIM42 [Q8IWZ5]3EBI-22310682,EBI-5235829
TROAP [Q12815]3EBI-22310682,EBI-2349743
TSPAN4 [O14817]3EBI-22310682,EBI-8652667
TTPA [P49638]3EBI-22310682,EBI-10210710
UTP23 [Q9BRU9]3EBI-22310682,EBI-5457544
UXT [Q9UBK9]3EBI-22310682,EBI-357355
VASN [Q6EMK4]3EBI-22310682,EBI-10249550
WDR25 - isoform 2 [Q64LD2-2]3EBI-22310682,EBI-12032042
ZDHHC1 [Q8WTX9]3EBI-22310682,EBI-2818796
ZNF124 [Q15973]3EBI-22310682,EBI-2555767
ZNF319 [Q9P2F9]3EBI-22310682,EBI-11993110
ZNF330 [Q9Y3S2]3EBI-22310682,EBI-373456
ZNF408 [Q9H9D4]3EBI-22310682,EBI-347633
ZNF414 [Q96IQ9]3EBI-22310682,EBI-744257
ZNF417 [Q8TAU3]3EBI-22310682,EBI-740727
ZNF440 [Q8IYI8]3EBI-22310682,EBI-726439
ZNF446 - isoform 2 [Q9NWS9-2]3EBI-22310682,EBI-740232
ZNF497 [Q6ZNH5]3EBI-22310682,EBI-10486136
ZNF580 [Q9UK33]3EBI-22310682,EBI-746277
ZNF581 [Q9P0T4]3EBI-22310682,EBI-745520
ZNF587 [Q96SQ5]3EBI-22310682,EBI-6427977
ZNF648 [Q5T619]3EBI-22310682,EBI-11985915
ZNF672 [Q499Z4]3EBI-22310682,EBI-12146251
ZNF786 [Q8N393]3EBI-22310682,EBI-10265203
ZNF837 [Q96EG3]3EBI-22310682,EBI-11962574

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
P0DPK4, 217 interactors

<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
P0DPK4

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%5Fand%5Fdomains%5Fsection">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

Identification of Orthologs from Complete Genome Data

More...
OMAi
CEKKTIC

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

<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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P0DPK4-1 [UniParc]FASTAAdd to basket
« 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:September 12, 2018 - 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

<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
A0A494C1K9A0A494C1K9_HUMAN
Notch homolog 2 N-terminal-like pro...
NOTCH2NLC
293Annotation 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>

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
AC239799 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS86015.1

NCBI Reference Sequences

More...
RefSeqi
NP_982283.2, NM_203458.4
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
XP_016858538.1, XM_017003049.1
XP_016858539.1, XM_017003050.1
XP_016858540.1, XM_017003051.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000578189; ENSP00000462298; ENSG00000286219
ENST00000652191; ENSP00000498514; ENSG00000286219

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
388677

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:388677

<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
AC239799 Genomic DNA No translation available.
CCDSiCCDS86015.1
RefSeqiNP_982283.2, NM_203458.4
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
XP_016858538.1, XM_017003049.1
XP_016858539.1, XM_017003050.1
XP_016858540.1, XM_017003051.1

3D structure databases

SMRiP0DPK4
ModBaseiSearch...

Protein-protein interaction databases

IntActiP0DPK4, 217 interactors

Proteomic databases

MassIVEiP0DPK4
PeptideAtlasiP0DPK4

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
72493 61 antibodies

Genome annotation databases

EnsembliENST00000578189; ENSP00000462298; ENSG00000286219
ENST00000652191; ENSP00000498514; ENSG00000286219
GeneIDi388677
KEGGihsa:388677

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
388677

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NOTCH2NLC
HGNCiHGNC:53924 NOTCH2NLC
MalaCardsiNOTCH2NLC
MIMi603472 phenotype
618025 gene
neXtProtiNX_P0DPK4
OpenTargetsiENSG00000264343
Orphaneti2289 Neuronal intranuclear inclusion disease

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

OMAiCEKKTIC

Miscellaneous databases

Protein Ontology

More...
PROi
PR:P0DPK4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

ExpressionAtlasiP0DPK4 baseline and differential

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

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 nameiNT2NC_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: P0DPK4
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 12, 2018
Last sequence update: September 12, 2018
Last modified: June 17, 2020
This is version 12 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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