| Primary Identifier | MGI:104684 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 13860 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin binding activity and small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; actin filament organization; and barbed-end actin filament capping. Acts upstream of or within several processes, including adult locomotory behavior; behavioral response to ethanol; and cellular response to leukemia inhibitory factor. Located in several cellular components, including brush border; ruffle membrane; and stereocilium tip. Part of NMDA selective glutamate receptor complex. Is active in glutamatergic synapse. Is expressed in several structures, including adrenal gland; alimentary system; bone; brain; and metanephros. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 102. Orthologous to human EPS8 (EGFR pathway substrate 8, signaling adaptor). PHENOTYPE: Homozygous mutation of this gene results in resistance to some of the intoxicating effects of ethanol and increased ethanol consumption. NMDA receptor currents and their sensitivity to inhibition by ethanol are abnormal. [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
