TRPV6 (transient receptor potential cation channel, subfamily V, member 6)

Alias_names	ECAC2
	epithelial calcium channel 2
	transient receptor potential cation channel, subfamily V, member 6
Alias_symbol (synonym)	CaT1
Other alias	ECaC2
	CATL
	ABP/ZF
	LP6728
	ZFAB
HGNC (Hugo)	TRPV6
LocusID (NCBI)	55503
Atlas_Id	44425
Location	7q34  [Link to chromosome band 7q34]
Location_base_pair	Starts at 142871203 and ends at 142885745 bp from pter ( according to hg19-Feb_2009)  [Mapping TRPV6.png]
Local_order	Colocalized with another Ca2+-selective epithelial channel gene, TRPV5.
	Schematic representation of human TRPV6 gene and neighbouring genes.

	Genomic structure of human TRPV6. The coding region is shown by open bars. The non-translated regions are shown by filled bars.
Description	TRPV6 gene consists of 15 exons and 14 introns including a coding, and a 5'-/3'- non-coding region. The regions encoding the ankyrin repeats, 6 transmembrane domains and a pore region are indicated. Several VDREs (vitamin D responsive element) have been identified in its promoter region. A haplotype containing 3 non-synonymous polymorphisms (C157R+M378V+M681T) represent a recent positive selection in human evolution. The same haplotype seems to be associated with renal calcium stone formation.
Transcription	There is an alterative splice variant which missed 25-192 (a.a.). In EST database, there seems to be at least one more variant using different exon 1 (V2) and a variant starting from another site (P3) just upstream of exon 2 (V3).

	Schematic representation of TRPV6 protein. Four subunits makes one channel pore. Several ankyrin repeats, one N-glycosylation site and several calmodulin binding sites (CaM) are indicated.
Description	Glycosylated membrane protein (725 a.a., MW ~70 kDa) with 6 transmembrane regions and a pore-forming loop. N- and C-terminal tails are in cytoplasmic side. This protein forms a Ca2+-selective ion channel in the plasma membrane. TRPV6 interacts with calmodulin which contribute to the intracellular Ca2+-dependent inactivation to avoid an increase of free Ca2+ concentration. The ankyrin repeats may play a role in the interaction between subunits. TRPV6 can form a homo-tetramer as well as a hetero-tetramer with TRPV5, which exhibits distinct channel properties.
Expression	Highly expressed in placenta, moderately expressed in exocrine pancreas, mammary gland and salivary gland. Highly induced in small intestine under low calcium conditions or by 1,25-dihydroxyvitamin D3 treatment. Highly induced in prostate, breast and other cancer tissues during tumor progression.
Localisation	Plasma membrane. Localized in the apical membrane of the epithelial cells in the duodenum, and syncytiotrophoblasts in placenta.
Function	Apical Ca2+ entry pathway for total body calcium homeostasis in the small intestine under the control of 1,25-dihydroxyvitamin D3. TRPV6 likely also be involved in the placental Ca2+ transport from mother to fetus to maintain fetal bone mineralization. TRPV6 may play a role in the Ca2+ entry pathway essential for keratinocyte differentiation. Although its exact function in cancer cells and tumor progression is still under investigation, TRPV6 is involved in an increase in proliferation and apoptotic resistance in cancer cells.
Homology	73% identity with human TRPV5. 89% identity with mouse TRPV6.

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