| Primary Identifier | MGI:2142149 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 101772 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables intracellularly calcium-gated chloride channel activity; protein homodimerization activity; and voltage-gated chloride channel activity. Involved in several processes, including chloride transmembrane transport; detection of temperature stimulus involved in sensory perception of pain; and mucus secretion. Acts upstream of or within establishment of localization in cell and regulation of membrane potential. Located in apical plasma membrane and external side of plasma membrane. Is active in glutamatergic synapse and presynaptic membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Moyamoya disease. Orthologous to human ANO1 (anoctamin 1). PHENOTYPE: Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology. Mice homozygous for a different knock-out allele exhibit proteinuria and intracellular endosomal vesicles in PTE cells. [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
