| Primary Identifier | MGI:104653 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 67972 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP hydrolysis activity; P-type calcium transporter activity; and PDZ domain binding activity. Involved in several processes, including positive regulation of bone mineralization; regulation of cytosolic calcium ion concentration; and regulation of vascular associated smooth muscle contraction. Located in basolateral plasma membrane; immunological synapse; and synaptic vesicle membrane. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study frontotemporal dementia and frontotemporal dementia and/or amyotrophic lateral sclerosis 7. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder. Orthologous to human ATP2B1 (ATPase plasma membrane Ca2+ transporting 1). PHENOTYPE: Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. Cultured blastocysts form outgrowths with apparent inner cell mass but limited trophectoderm and primitive endoderm 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
