TRPV6 gene

transient receptor potential cation channel subfamily V member 6

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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, PubMed:29258289). 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.

From NCBI Gene:

  • HYPERPARATHYROIDISM, TRANSIENT NEONATAL

From UniProt:

Hyperparathyroidism, transient neonatal (HRPTTN): An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally. [MIM:618188]

Cytogenetic Location: 7q34, which is the long (q) arm of chromosome 7 at position 34

Molecular Location: base pairs 142,871,208 to 142,885,745 on chromosome 7 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 7q34, which is the long (q) arm of chromosome 7 at position 34
  • ABP/ZF
  • CAT1
  • CATL
  • ECAC2
  • HRPTTN
  • HSA277909
  • LP6728
  • ZFAB