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Gene

TRPV6

transient receptor potential cation channel subfamily V member 6

Summary

Cytogenetic location
7q34
Coordinates
Chromosome 7: 142,871,208–142,885,745 (GRCh38)
Exons
15 exons across 14.5 kb
Protein
765 amino acids
Also known as
CaT1
Previous symbols
ECAC2
MANE Select transcript
ENST00000359396.9NM_018646.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Familial Hypomagnesemia

    • Familial Primary Hypomagnesemia

      A group of inherited magnesium-wasting disorders caused by variants in genes such as CLDN16, CLDN19, TRPM6, CNNM2 and FXYD2; the CLDN16 and CLDN19 forms can progress to chronic kidney disease.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Magnesium supplementation can control symptoms, and some forms need kidney function and eye monitoring.

  • Pancreatitis

    • Inflammation of the pancreas.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Pain management; pancreatic enzyme replacement for exocrine insufficiency; diabetes management; annual EUS/MRCP surveillance for pancreatic cancer beginning at age 40; total pancreatectomy with islet autotransplantation (TPIAT) in refractory cases

  • Thyroid Cancer

    • Parathyroid Gland Disorder

      A disease involving the parathyroid gland.

      • 2 GenCC submitters rate it definitive or strong

How TRPV6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where TRPV6 sits. TRPV6 and 17 genes near it on chromosome 7, from 142,378,477 to 143,378,476.Chromosome 77q34p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3142.4 Mb142.6 Mb142.8 Mb143 Mb143.2 MbTRBV11-2: 142,433,895–142,434,394, forward strandTRBV11-2PRSS1: 142,749,468–142,753,072, forward strandPRSS1PRSS2: 142,760,398–142,774,564, forward strandPRSS2EPHB6: 142,854,809–142,872,810, forward strandEPHB6TRPV6: 142,871,208–142,885,745, reverse strandTRPV6TRPV5: 142,904,277–142,933,746, reverse strandTRPV5SOFU1: 142,939,343–142,949,915, forward strandSOFU1KEL: 142,941,114–142,962,369, reverse strandKELOR9A2: 143,026,200–143,027,132, reverse strandOR9A2OR6V1: 143,052,341–143,053,282, forward strandOR6V1PIP: 143,132,077–143,139,746, forward strandPIPTAS2R39: 143,183,419–143,184,435, forward strandTAS2R39TAS2R40: 143,222,037–143,223,079, forward strandTAS2R40GSTK1: 143,244,093–143,272,483, forward strandGSTK1TMEM139: 143,279,937–143,288,240, forward strandTMEM139CASP2: 143,288,215–143,307,696, forward strandCASP2CLCN1: 143,316,111–143,353,744, forward strandCLCN1FAM131B: 143,353,395–143,362,815, reverse strandFAM131BDiagram of TRPV6: 15 exons on the reverse strand of chromosome 7Exon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 15: 142,871,208–142,871,989, 782 basesExon 14: 142,872,372–142,872,478, 107 basesExon 13: 142,873,448–142,873,716, 269 basesExon 12: 142,874,076–142,874,142, 67 basesExon 11: 142,874,491–142,874,656, 166 basesExon 10: 142,874,904–142,874,980, 77 basesExon 9: 142,875,078–142,875,164, 87 basesExon 8: 142,875,468–142,875,680, 213 basesExon 7: 142,875,758–142,875,904, 147 basesExon 6: 142,876,408–142,876,583, 176 basesExon 5: 142,876,739–142,876,837, 99 basesExon 4: 142,877,142–142,877,279, 138 basesExon 3: 142,877,651–142,877,773, 123 basesExon 2: 142,877,929–142,878,026, 98 basesExon 1: 142,885,389–142,885,745, 357 bases15141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.9 kb of the gene's 14.5 kb; 2,298 of those bases code for the protein.

How a genome test reads TRPV6

13

positions in TRPV6 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 14.5 kb of TRPV6, introns included, not only the 2.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TRPV6 gene: transient receptor potential cation channel subfamily V member 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/trpv6

Vancouver

Dante Labs. TRPV6 gene: transient receptor potential cation channel subfamily V member 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/trpv6

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