| Primary Identifier | MGI:1889008 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 235574 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; P-type ion transporter activity; and metal ion binding activity. Involved in Golgi calcium ion homeostasis and positive regulation of Golgi to plasma membrane protein transport. Located in Golgi cisterna membrane and cis-Golgi network membrane. Is expressed in several structures, including gut; heart; liver; lung; and mammary gland. Human ortholog(s) of this gene implicated in Hailey-Hailey disease. Orthologous to human ATP2C1 (ATPase secretory pathway Ca2+ transporting 1). PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, failure of rostral neural tube closure, Golgi and endoplasmic reticulum stress, increased apoptosis, accumulation of intracellular lipid droplets and midgestational lethality. Aged heterozygotes develop squamous cell tumors. [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
