Gene
TRPV3
transient receptor potential cation channel subfamily V member 3
- HGNC 18084↗(opens in a new tab)
- Ensembl gene ENSG00000167723↗(opens in a new tab)
- NCBI Gene 162514↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.2
- Coordinates
- Chromosome 17: 3,510,502–3,557,812 (GRCh38)
- Exons
- 18 exons across 47.3 kb
- Protein
- 790 amino acids
- Also known as
- VRL3
- MANE Select transcript
- ENST00000576742.6NM_145068.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita
- Hereditary palmoplantar keratoderma
Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.
How TRPV3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 5.9 kb of the gene's 47.3 kb; 2,373 of those bases code for the protein.
How a genome test reads TRPV3
3
positions in TRPV3 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 47.3 kb of TRPV3, introns included, not only the 5.9 kb of exons.
Genes linked to the same conditions
- AAGABalpha and gamma adaptin binding proteinShares 1 condition
- AP1B1adaptor related protein complex 1 subunit beta 1Shares 1 condition
- AQP5aquaporin 5Shares 1 condition
- CTSCcathepsin CShares 1 condition
- DSG1desmoglein 1Shares 1 condition
- DSPdesmoplakinShares 1 condition
- GJA1gap junction protein alpha 1Shares 1 condition
- GJB2gap junction protein beta 2Shares 1 condition
- GJB3gap junction protein beta 3Shares 1 condition
- GJB4gap junction protein beta 4Shares 1 condition
- GJB6gap junction protein beta 6Shares 1 condition
- GRHL2grainyhead like transcription factor 2Shares 1 condition
Traits linked to TRPV3
The Human Phenotype Ontology lists these as features of the rare conditions TRPV3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). TRPV3 gene: transient receptor potential cation channel subfamily V member 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/trpv3
Dante Labs. TRPV3 gene: transient receptor potential cation channel subfamily V member 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/trpv3
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