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Gene

TRPV4

transient receptor potential cation channel subfamily V member 4

Summary

Cytogenetic location
12q24.11
Coordinates
Chromosome 12: 109,783,089–109,833,398 (GRCh38)
Exons
16 exons across 50.3 kb
Protein
871 amino acids
Also known as
OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C
MANE Select transcript
ENST00000261740.7NM_021625.5
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 report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How TRPV4 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 12, with a bracket where TRPV4 sits. TRPV4 and 14 genes near it on chromosome 12, from 109,308,244 to 110,308,243.Chromosome 1212q24.11p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33109.4 Mb109.6 Mb109.8 Mb110 Mb110.2 MbFOXN4: 109,277,978–109,309,289, reverse strandFOXN4MYO1H: 109,347,900–109,455,523, forward strandMYO1HKCTD10: 109,448,655–109,477,359, reverse strandKCTD10UBE3B: 109,477,375–109,536,705, forward strandUBE3BMMAB: 109,553,715–109,573,580, reverse strandMMABMVK: 109,573,255–109,600,609, forward strandMVKFAM222A: 109,713,819–109,770,495, forward strandFAM222ATRPV4: 109,783,089–109,833,398, reverse strandTRPV4GLTP: 109,850,943–109,880,549, reverse strandGLTPTCHP: 109,900,264–109,983,841, forward strandTCHPGIT2: 109,929,792–109,996,389, reverse strandGIT2ANKRD13A: 109,999,186–110,039,763, forward strandANKRD13AC12orf76: 110,020,353–110,073,636, reverse strandC12orf76IFT81: 110,124,314–110,218,795, forward strandIFT81ATP2A2: 110,280,603–110,351,093, forward strandATP2A2Diagram of TRPV4: 16 exons on the reverse strand of chromosome 12Exon 16: 1 known disease-causing siteExon 15: 5 known disease-causing sitesExon 14: 1 known disease-causing siteExon 13: 3 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 7 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 16: 109,783,089–109,783,778, 690 basesExon 15: 109,784,316–109,784,437, 122 basesExon 14: 109,786,710–109,786,837, 128 basesExon 13: 109,788,400–109,788,716, 317 basesExon 12: 109,792,363–109,792,429, 67 basesExon 11: 109,792,652–109,792,817, 166 basesExon 10: 109,793,527–109,793,600, 74 basesExon 9: 109,793,930–109,794,022, 93 basesExon 8: 109,794,329–109,794,487, 159 basesExon 7: 109,796,525–109,796,704, 180 basesExon 6: 109,798,614–109,798,912, 299 basesExon 5: 109,800,618–109,800,758, 141 basesExon 4: 109,802,991–109,803,143, 153 basesExon 3: 109,808,296–109,808,468, 173 basesExon 2: 109,814,411–109,814,827, 417 basesExon 1: 109,833,350–109,833,398, 49 bases161015′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 3.2 kb of the gene's 50.3 kb; 2,616 of those bases code for the protein.

    How a genome test reads TRPV4

    43

    positions in TRPV4 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 50.3 kb of TRPV4, introns included, not only the 3.2 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.). TRPV4 gene: transient receptor potential cation channel subfamily V member 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/trpv4

    Vancouver

    Dante Labs. TRPV4 gene: transient receptor potential cation channel subfamily V member 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/trpv4

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