| Primary Identifier | MGI:88110 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 11938 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables P-type calcium transporter activity; enzyme binding activity; and lncRNA binding activity. Involved in calcium ion import into sarcoplasmic reticulum and calcium ion transmembrane transport. Acts upstream of or within several processes, including T-tubule organization; cardiac muscle hypertrophy in response to stress; and regulation of heart contraction. Located in membrane; ribbon synapse; and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and immune system. Used to study keratosis follicularis. Human ortholog(s) of this gene implicated in acrokeratosis verruciformis; essential hypertension; keratosis follicularis; and pulmonary hypertension. Orthologous to human ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2). PHENOTYPE: Targeted homozygous mutants are embryonic lethal while heterozygotes show reduced blood pressure and mildly impaired cardiac contractility and relaxation. Aged heterozygotes for one targeted mutation develop squamous cell tumors of the forestomach, esophagus, oral mucosa, tongue, and skin. [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
