Aliases for TRPV6 Gene
- Transient Receptor Potential Cation Channel Subfamily V Member 6 2 3 5
- Epithelial Calcium Channel 2 2 3 4
- Calcium Transport Protein 1 3 4
- ECAC2 3 4
- CAT1 3 4
- Transient Receptor Potential Cation Channel, Subfamily V, Member 6 2
- Epithelial Apical Membrane Calcium Transporter/Channel CaT1 3
- Alu-Binding Protein With Zinc Finger Domain 3
- Calcium Transporter-Like Protein 3
External Ids for TRPV6 Gene
Previous HGNC Symbols for TRPV6 Gene
Previous GeneCards Identifiers for TRPV6 Gene
This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
GeneCards Summary for TRPV6 Gene
TRPV6 (Transient Receptor Potential Cation Channel Subfamily V Member 6) is a Protein Coding gene. Diseases associated with TRPV6 include Aromatase Deficiency and Corneal Staphyloma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is TRPV5.
UniProtKB/Swiss-Prot for TRPV6 Gene
Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11278579, PubMed:11248124 PubMed:15184369, PubMed:23612980). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating.
Vanilloids are a group of compounds, structurally related to capsaicin, thought to exert their actions via vanilloid receptors. The vanilloid receptor family (TRPV) is a member of the transient receptor potential (TRP) superfamily of ion channels, and have six members (TRPV1-6).