Primary Identifier | MGI:104771 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 13869 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables GABA receptor binding activity; epidermal growth factor receptor activity; and neuregulin receptor activity. Involved in several processes, including cell surface receptor signaling pathway; mammary gland development; and nervous system development. Acts upstream of or within several processes, including cellular response to epidermal growth factor stimulus; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of protein localization to cell surface. Is active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and synaptic membrane. Is expressed in several structures, including brain; embryo ectoderm; facial prominence; heart; and mammary gland primordium. Used to study schizophrenia. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 19; colorectal cancer; esophagus squamous cell carcinoma; hepatocellular carcinoma; and lung adenocarcinoma. Orthologous to human ERBB4 (erb-b2 receptor tyrosine kinase 4). PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. [provided by MGI curators] |