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NOTCH2 notch receptor 2 [ Homo sapiens (human) ]

Gene ID: 4853, updated on 20-Dec-2019

Summary

Official Symbol
NOTCH2provided by HGNC
Official Full Name
notch receptor 2provided by HGNC
Primary source
HGNC:HGNC:7882
See related
Ensembl:ENSG00000134250 MIM:600275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hN2; AGS2; HJCYS
Summary
This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in testis (RPKM 12.9), ovary (RPKM 12.0) and 25 other tissues See more
Orthologs

Genomic context

See NOTCH2 in Genome Data Viewer
Location:
1p12
Exon count:
34
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119911553..120069703, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120454176..120639880, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene notch 2 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 30 Neighboring gene Sharpr-MPRA regulatory region 11377/13297 Neighboring gene uncharacterized LOC101929178 Neighboring gene uncharacterized LOC105378939

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alagille syndrome 2
MedGen: C1857761 OMIM: 610205 GeneReviews: Alagille Syndrome
Compare labs
Hajdu-Cheney syndrome
MedGen: C0917715 OMIM: 102500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2014-07-17)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2014-07-17)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat interacts with the EGF-like repeats 1-6 (amino acids 26-256) of Human Notch2, suggesting Tat might modulate Notch2 function, thus affecting various AIDS-associated pathologies PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NF-kappaB binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
animal organ morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
atrial septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
bone remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cell fate determination TAS
Traceable Author Statement
more info
PubMed 
cholangiocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
ciliary body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
glomerular capillary formation IEA
Inferred from Electronic Annotation
more info
 
glomerular visceral epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis TAS
Traceable Author Statement
more info
PubMed 
hepatocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-4 secretion IEA
Inferred from Electronic Annotation
more info
 
intrahepatic bile duct development IEA
Inferred from Electronic Annotation
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
marginal zone B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
myeloid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of growth rate IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
placenta blood vessel development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of keratinocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
proximal tubule development IEA
Inferred from Electronic Annotation
more info
 
pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin cytoskeleton reorganization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of osteoclast development IMP
Inferred from Mutant Phenotype
more info
PubMed 
stem cell population maintenance TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cilium IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neurogenic locus notch homolog protein 2
Names
Notch homolog 2
notch 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008163.1 RefSeqGene

    Range
    5001..163101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001200001.1NP_001186930.1  neurogenic locus notch homolog protein 2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF315356, BC071562, DB290699
    UniProtKB/Swiss-Prot
    Q04721
    UniProtKB/TrEMBL
    Q6IQ50
    Conserved Domains (2) summary
    PHA02887
    Location:629681
    PHA02887; EGF-like protein; Provisional
    cd00054
    Location:182218
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
  2. NM_024408.4NP_077719.2  neurogenic locus notch homolog protein 2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_077719.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF315356, AL133036, BC071562, DB290699
    Consensus CDS
    CCDS908.1
    UniProtKB/Swiss-Prot
    Q04721
    UniProtKB/TrEMBL
    Q6IQ50, Q9UFD5
    Related
    ENSP00000256646.2, ENST00000256646.7
    Conserved Domains (9) summary
    cd00054
    Location:182218
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00204
    Location:19382062
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam05387
    Location:22922421
    Chorion_3; Chorion family 3
    pfam00066
    Location:14231456
    Notch; LNR domain
    pfam06816
    Location:15401591
    NOD; NOTCH protein
    pfam07684
    Location:16201673
    NODP; NOTCH protein
    pfam11936
    Location:23812444
    DUF3454; Domain of unknown function (DUF3454)
    pfam12796
    Location:19482040
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:19431974
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    119911553..120069703 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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