NOTCH4 notch receptor 4
Gene ID: 4855, updated on 14-Nov-2024Gene type: protein coding
Also known as: INT3
- See all available tests in GTR for this gene
- Go to complete Gene record for NOTCH4
- Go to Variation Viewer for NOTCH4 variants
Summary
This gene encodes a member of the NOTCH family of proteins. Members of this Type I 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 signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A comprehensive family-based replication study of schizophrenia genes. GeneReviews: Not available | |
| A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. GeneReviews: Not available | |
| A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). GeneReviews: Not available | |
| Common genetic variation and the control of HIV-1 in humans. GeneReviews: Not available | |
| Common variants conferring risk of schizophrenia. GeneReviews: Not available | |
| Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. GeneReviews: Not available | |
| Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. GeneReviews: Not available | |
| Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. GeneReviews: Not available | |
| Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. GeneReviews: Not available | |
| Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. GeneReviews: Not available | |
| Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis. GeneReviews: Not available | |
| Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens. GeneReviews: Not available | |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (32194843..32224067, complement)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NOTCH4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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