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Symbol TRPV6 contributors: mct/npt - updated : 17-01-2020
HGNC name transient receptor potential cation channel, subfamily V, member 6
HGNC id 14006
Corresponding disease
TNHP1 transient neonatal hyperparathyroidism 1
Location 7q34      Physical location : 142.568.959 - 142.583.477
Synonym name
  • epithelial calcium channel 2
  • epithelial apical membrane calcium transporter/channel CaT1
  • Alu-binding protein with zinc finger domain
  • cationic amino acid transporter-1
  • calcium transporter-like protein
  • Synonym symbol(s) CAT1, ECAC2, ABP/ZF, CATL, HSA277909, LP6728, ZFAB
    TYPE functioning gene
    STRUCTURE 14.52 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   hormone
    MAPPING cloned Y linked N status provisional
    Map . TRPV6 gene promoter contains estrogen-response element, estrogen activates TRPV6 via ESR1 , and ESR1-expressing ARC neurons in mediobasal hypothalamus (MBH ) serve as primary site for estradiol feedback (PMID: 28039038)
    TRANSCRIPTS type messenger
    text larger transcription placenta, pancreas, a different transcript in brain
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2918 - 725 - 2007 17197020
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestineduodenum highly Homo sapiens
     salivary gland   highly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  highly Homo sapiens
     male systemprostate  highly
    Urinarybladder   highly
     kidneytubulecollecting duct highly
    Visualeyeretina    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cell lineage prostate cancer cells
    cell lines colorectal cancer cell line, prostate cancer
    at STAGE
    physiological period pregnancy
    Text placenta
  • cytoplasmic N terminus, with a region of amino acids 1-191 interacting with PTPN1 (Sternfeld 2007), extended N terminus
  • three ankyrin repeats multiple phosphrylation sites
  • six transmembrane spanning ankyrin repeats domains, six ankyrin-like repeats in the TRPV6 N-terminal
  • a putative pore-forming region between transmembrane domains 5 and 6
  • a C terminal cytoplasmic domain, with PDZ (Post-synaptic density-95, Drosophila discs-large protein, Zonula occludens protein 1) binding motif
    interspecies homolog to murine Trpv6
    intraspecies homolog to TRPV5
  • transient receptor family
  • TrpV subfamily
  • CATEGORY receptor , transport channel
        plasma membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
  • most of TRPV6 reside in the ER or Golgi complex after biosynthesis without going through a secretory pathway via trans-Golgi network to reach the plasma membrane
  • TRPC1 is able to suppress TRPV6 dependent currents/entry because of a reduction of TRPV6 plasma membrane expression
  • basic FUNCTION
  • playing a role in 1,25(OH)(2)D(3)-stimulated Ca(2+) reabsorption in the kidney
  • increasing the rate of Ca(2+) dependent cell proliferation which is a prerequisite for its potential role in tumor progression
  • play a role in the intestinal Ca2+ absorption from food, and in the Ca2+ uptake by the epididymal epithelium
  • being a prerequisite for keratinocyte entry into differentiation
  • duodenal TRPV6 expression is vitamin D dependent in men, but not in older women, where expression of TRPV6 and VDR are both reduced
  • may participate in Ca2+ transport and/or Ca2+ signaling processes
  • exhibited a lower efficiency of membrane expression and the majority of channel proteins in the plasma membrane were in core-glycosylated form
  • important function of TRPV6 is the Ca2+ uptake in the small intestine, kidney, and bone
  • not required for vitamin D-induced intestinal calcium absorption and may not carry out a significant role in this process (Kutuzova 2008)
  • could function in retinal pigment epithelium to mediate calcium influx from subretinal space and thus regulate changes in subretinal space calcium composition that accompany light/dark transitions
  • calcium supply is limited and in this condition indirectly regulates bone formation and/or mineralization
  • mediates the first step of transcellular Ca2+ transport and is considered to be a gatekeeper for active Ca2+ absorption
  • potentially involved in male fertility depending on Ca2+ absorption by TRPV6 in epididymal epithelia
  • function as epithelial Ca(2+) entry pathways in the epididymis, prostate, and placenta
  • TRPV5 and TRPV6 are crucial gates controlling cadmium and zinc levels in the human body especially under low calcium dietary conditions, when these channels are maximally upregulated
  • is a novel cell adhesion molecule (CAM) that directly regulates endothelial integrity and mediates the protective actions of L-Arg to endothelium via a NO-independent mechanism
  • TRPV5 and TRPV6 play vital roles in calcium homeostasis as Ca(2+) uptake channels in epithelial tissues
  • play a critical role in calcium uptake in epithelial tissues
  • TRPV6 channels are constitutively active and their open probability depends on the lipidic composition of the membrane in which they reside
    text transcellular calcium transport
    a component
    small molecule metal binding, nucleotide,
  • Mg2+
  • ATP
  • protein
  • colocalizing with calbindin
  • interacting with PDZK2
  • interacts with the N-terminal domain of RGS2 in a Ca(2+)-independent fashion and overexpression of RGS2 reduces the Na(+) and Ca(2+) current of TRPV6
  • interacting with WNK4 and TRPV5
  • interacting with PPIB (Stumpf 2008)
  • interaction between TRPV6 and NEDD4L WW1 and WW2 domains plays a critical role in controlling the degradation of TRPV6
  • functional interaction of TRPC1 with TRPV6 that negatively regulates Ca2+ influx (
  • NUMB interacts with TRPV6 through charged residues and inhibits its activity via the regulation of protein expression
  • ZFHX3 plays likely an important role in intracellular calcium homeostasis in mammary epithelial cells, at least in part, by regulating TRPV6
  • cell & other
    induced by by estrogens and the reproductive cycle at transcriptional levels
    repressed by TRPC1 (down-regulation of TRPV6 currents by TRPC1 may increase the cellular diversity to fine-tune Ca2+ homeostasis)
    Other modulated by Mg2+
    positively regulated by 1,25(OH)(2)D(3)
    regulated by the serine/threonine protein kinase isoforms SGK and SGK3, independently of the presence of the scaffold proteins NHERF1 and NHERF2
    regulated by STX6 (likely scenario is that most of the core-glycosylated TRPV5 and TRPV6 are trapped in the ER or Golgi complex without reaching the cisternae for complex glycosylation in the presence of excessive syntaxin 6)
    highly regulated by 1,25(OH)2-vitamin D3 at the transcriptional level
    corresponding disease(s) TNHP1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in prostate carcinoma advanced with metastatic lesions
    constitutional       gain of function
    plays a role in calcium stone formation in certain forms of absorptive hypercalciuria
    tumoral     --low  
    in esophageal squamous cell carcinoma (ESCC) tissues and cell lines
    Variant & Polymorphism
    Candidate gene molecular candidate for apical Ca2+ entry route in renal and intestinal epithelial cells
  • as a predictive biomarker, TRPV6 plays a Janus-like role in predicting survival of male and female ESCC patients
  • Therapy target