v erb b2 avian erythroblastic leukemia viral oncogene homolog 3
v erb b2 erythroblastic leukemia viral oncogene homolog 3
v erb b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
FunctionBinds and is activated by neuregulins and NTAK.
Tissue specificityEpithelial tissues and brain.
Involvement in diseaseDefects in ERBB3 are the cause of lethal congenital contracture syndrome type 2 (LCCS2) [MIM:607598]; also called Israeli Bedouin multiple contracture syndrome type A. LCCS2 is an autosomal recessive neurogenic form of a neonatally lethal arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. The LCCS2 syndrome is characterized by multiple joint contractures, anterior horn atrophy in the spinal cord, and a unique feature of a markedly distended urinary bladder. The phenotype suggests a spinal cord neuropathic etiology.
Sequence similaritiesBelongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. Contains 1 protein kinase domain.
Developmental stageOverexpressed in a subset of human mammary tumors.
DomainThe cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.
Post-translational modificationsLigand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase.