Primary Identifier | MGI:2139354 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 99371 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including GABA receptor binding activity; guanyl-nucleotide exchange factor activity; and protein kinase A regulatory subunit binding activity. Predicted to be involved in several processes, including Golgi to plasma membrane transport; positive regulation of tumor necrosis factor production; and receptor recycling. Predicted to act upstream of or within intracellular signal transduction. Predicted to be located in several cellular components, including Golgi apparatus; microtubule cytoskeleton; and recycling endosome. Predicted to be active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and postsynapse. Is expressed in brown fat; central nervous system; duodenum; thymus; and trunk. Human ortholog(s) of this gene implicated in periventricular nodular heterotopia. Orthologous to human ARFGEF2 (ARF guanine nucleotide exchange factor 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration. [provided by MGI curators] |