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TRPV4

transient receptor potential cation channel subfamily V member 4
9 disorders 5 untyped 4 causative 12q24.11 gene with protein product
HGNC:18083MonarchNCBI Gene 59341ENSG00000111199UniProt Q9HBA0OMIM 605427

Aliases: OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Brachyolmia causative
mechanism: TRPV4 constitutive channel activation
subtype: AD-TRPV4
scoped to subtype: AD-TRPV4
Charcot-Marie-Tooth Disease Axonal Type 2C causative gain of function
mechanism: TRPV4 Ankyrin-Repeat Domain Gain-of-Function Variant
Spondyloepimetaphyseal Dysplasia Maroteaux Type causative
mechanism: TRPV4 Channel Dysfunction in Chondrocytes
Spondylometaphyseal Dysplasia Kozlowski Type causative gain of functionloss of function
mechanism: TRPV4 Gain-of-Function Channel Activation; TRPV4 Loss-of-Function Channel Impairment
Avascular Necrosis of Femoral Head, Primary, 2 untyped germline gain of function
mechanism: TRPV4 C-Terminal Truncation
variant: TRPV4 c.2480_2483delCCCG with c.2486T>A (p.V829Wfs*3)
Distal Hereditary Motor Neuronopathy, Autosomal Dominant untyped
mechanism: Motor Neuron and Distal Axon Gene Defect
subtype: dHMN-TRPV4
scoped to subtype: dHMN-TRPV4
Familial Digital Arthropathy-Brachydactyly untyped
Causative
germline loss of function
mechanism: TRPV4 Ankyrin Repeat Domain Missense Variants
Metatropic Dysplasia untyped
Causative
mechanism: SOX9-Mediated Blocked Terminal Chondrocyte Differentiation; TRPV4 Channel Hyperactivity in Growth Plate Chondrocytes
Scapuloperoneal Spinal Muscular Atrophy untyped
mechanism: TRPV4 Channel Gain-of-Function
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
TRPV4-related bone disorder MONDO:0018240 AD Definitive
2023-10-20
 no dismech entry
neuromuscular disease MONDO:0019056 AD Definitive
2021-12-14
 no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.