ERBB3 erb-b2 receptor tyrosine kinase 3
Gene ID: 2065, updated on 11-Apr-2024Gene type: protein coding
Also known as: HER3; FERLK; LCCS2; VSCN1; ErbB-3; c-erbB3; erbB3-S; MDA-BF-1; c-erbB-3; p180-ErbB3; p45-sErbB3; p85-sErbB3
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- Go to complete Gene record for ERBB3
- Go to Variation Viewer for ERBB3 variants
Summary
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. GeneReviews: Not available | |
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. GeneReviews: Not available | |
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
Erythroleukemia, familial, susceptibility to | See labs |
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
Lethal congenital contracture syndrome 2 | See labs |
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. GeneReviews: Not available | |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. GeneReviews: Not available | |
Visceral neuropathy, familial, 1, autosomal recessive | See labs |
Genomic context
- Location:
- 12q13.2
- Sequence:
- Chromosome: 12; NC_000012.12 (56080108..56103505)
- Total number of exons:
- 30
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ERBB3 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ERBB3 database
- MedGenRelated information in MedGen
- 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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