| Primary Identifier | MGI:2652847 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 241296 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable cyclic-GMP-AMP transmembrane transporter activity; identical protein binding activity; and volume-sensitive anion channel activity. Predicted to contribute to monoatomic anion channel activity. Predicted to be involved in several processes, including chloride transmembrane transport; organic anion transport; and protein hexamerization. Predicted to act upstream of or within cell differentiation; monoatomic ion transmembrane transport; and spermatogenesis. Predicted to be located in cell surface and lysosomal membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; nervous system; and upper leg. Human ortholog(s) of this gene implicated in agammaglobulinemia and agammaglobulinemia 5. Orthologous to human LRRC8A (leucine rich repeat containing 8 VRAC subunit A). PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [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
