Description: Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA. RefSeq Summary (NM_001982): 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]. Transcript (Including UTRs) Position: hg19 chr12:56,487,129-56,487,775 Size: 647 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr12:56,487,151-56,487,756 Size: 606 Coding Exon Count: 2
Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus Budarf ML et al. 2011, A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles., Genes and immunity 12(1) : 51-8 2011.
[PubMed 20962850]
Diabetes Mellitus, Type 1 John A Todd et al. Nature genetics 2007, Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes., Nature genetics.
[PubMed 17554260]
Diabetes Mellitus, Type 1 Jason D Cooper et al. Nature genetics 2008, Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci., Nature genetics.
[PubMed 18978792]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75812
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_ErbB3Pathway - Neuroregulin receptor degredation protein-1 Controls ErbB3 receptor recycling h_her2Pathway - Role of ERBB2 in Signal Transduction and Oncology