| Primary Identifier | MGI:95411 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 13867 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables neuregulin receptor activity. Involved in several processes, including ERBB2-ERBB3 signaling pathway; nervous system development; and positive regulation of JNK cascade. Acts upstream of or within several processes, including nervous system development; positive regulation of calcineurin-NFAT signaling cascade; and positive regulation of cardiac muscle tissue development. Located in apical plasma membrane and lateral plasma membrane. Is active in postsynaptic membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 2; lung adenocarcinoma; lung non-small cell carcinoma; and neuronal intestinal dysplasia type A. Orthologous to human ERBB3 (erb-b2 receptor tyrosine kinase 3). PHENOTYPE: Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality. Homozygosity for a kinase-dead allele in the context of the ApcMin intestinal adenoma model leads to reduced number and size of polyps in the small intestine. Homozygosity for the p.R1119A mutation prevents transport of the encoded protein to the nucleus, which leads to peripheral hypermyelination. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
