| Primary Identifier | MGI:2685387 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 224088 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity; P-type transmembrane transporter activity; and polyamine transmembrane transporter activity. Predicted to be involved in intracellular calcium ion homeostasis and polyamine transmembrane transport. Predicted to be located in early endosome membrane and recycling endosome membrane. Predicted to be active in late endosome membrane. Human ortholog(s) of this gene implicated in primary pulmonary hypertension. Orthologous to human ATP13A3 (ATPase 13A3). PHENOTYPE: Homozygous mice with a pulmonary arterial hypertension-associated frameshift variant are born at a lower than expected frequency. Heterozygous males develop spontaneous pulmonary arterial hypertension. [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
