Gene: ERBB3

Alternate names for this Gene: ErbB-3|FERLK|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.2

Description of this Gene: erb-b2 receptor tyrosine kinase 3

Type of Gene: protein-coding

rs11171739 in ERBB3 gene and Allergic Reaction PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs2292239 in ERBB3 gene and Alopecia Areata PMID 25608926 2015 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

rs11171739 in ERBB3 gene and Asthma PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs2292239 in ERBB3 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs10783779 in ERBB3 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1057519803 in ERBB3 gene and Colonic Neoplasms PMID 23680147 2013 Oncogenic ERBB3 mutations in human cancers.

rs1057519893 in ERBB3 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs11171739 in ERBB3 gene and Diabetes Mellitus, Insulin-Dependent PMID 17554300 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

PMID 17554260 2007 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

PMID 18978792 2008 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs755855285 in ERBB3 gene and ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO PMID 27416908 2016 A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.

rs1057519893 in ERBB3 gene and Gallbladder Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519891 in ERBB3 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs877636 in ERBB3 gene and Intelligence PMID 25644384 2015 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

rs11171739 in ERBB3 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs1057519891 in ERBB3 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519891 in ERBB3 gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs2292239 in ERBB3 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs1057519817 in ERBB3 gene and Neoplasms PMID 23680147 2013 Oncogenic ERBB3 mutations in human cancers.

rs2271194 in ERBB3 gene and Polycystic Ovary Syndrome PMID 30566500 2018 Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

PMID 22885925 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.

rs34379766 in ERBB3 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs1057519803 in ERBB3 gene and Stomach Neoplasms PMID 23680147 2013 Oncogenic ERBB3 mutations in human cancers.

rs1057519891 in ERBB3 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519891 in ERBB3 gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519893 in ERBB3 gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs11171739 in ERBB3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.