| Primary Identifier | MGI:2385297 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 233979 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables NAADP-sensitive calcium-release channel activity; ligand-gated sodium channel activity; and voltage-gated calcium channel activity. Involved in several processes, including endocytosis involved in viral entry into host cell; endosome to lysosome transport of low-density lipoprotein particle; and release of sequestered calcium ion into cytosol. Located in lysosomal membrane and melanosome membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in pigmentation disease. Orthologous to human TPCN2 (two pore segment channel 2). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit altered beta cell calcium ion physiology. Hetero- or homozygosity for a gain of function mutation leads to lysosomal acidification, enhanced lysosomal calcium ion release and reduced eye, coat and tail pigmentation. [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
