| Primary Identifier | MGI:99418 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 16439 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables inositol 1,4,5-trisphosphate-gated calcium channel activity and phosphatidylinositol binding activity. Involved in cellular response to cAMP. Acts upstream of or within calcium ion transmembrane transport; calcium-mediated signaling; and cellular response to ethanol. Located in cell cortex and sarcoplasmic reticulum. Is expressed in several structures, including heart; liver; medulla oblongata; skeletal muscle; and spleen. Used to study isolated anhidrosis with normal sweat glands. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and isolated anhidrosis with normal sweat glands. Orthologous to human ITPR2 (inositol 1,4,5-trisphosphate receptor type 2). PHENOTYPE: Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling. [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
