TRPV5

Chr 7

transient receptor potential cation channel subfamily V member 5

Also known as: CAT2, ECAC1, OTRPC3

NCBI Gene: 56302ENSG00000127412UniProt: Q9NQA5

This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]

171
ClinVar variants
48
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TRPV5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
48 Pathogenic / Likely Pathogenic· 107 VUS of 171 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.97LOEUF
pLI 0.000
Z-score 1.68
OE 0.71 (0.52–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.19Z-score
OE missense 1.03 (0.95–1.11)
446 obs / 434.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.71 (0.52–0.97)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.03 (0.95–1.11)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.15
0≤1.21.6
LoF obs/exp: 27 / 38.2Missense obs/exp: 446 / 434.7Syn Z: -1.53

ClinVar Variant Classifications

171 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic1
VUS107
Likely Benign9
Benign7
47
Pathogenic
1
Likely Pathogenic
107
VUS
9
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
46
0
47
Likely Pathogenic
0
0
1
0
1
VUS
0
96
7
4
107
Likely Benign
0
9
0
0
9
Benign
0
4
0
3
7
Total0110547171

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRPV5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — TRPV5
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.
Geraghty R et al.·Curr Urol Rep
2024Review
TRPV6 channels.
Fecher-Trost C et al.·Handb Exp Pharmacol
2014Review
Molecular mechanisms altering tubular calcium reabsorption.
Downie ML et al.·Pediatr Nephrol
2022Review
Targeting SGK1 in diabetes.
Lang F et al.·Expert Opin Ther Targets
2009Review
Genetics of kidney stone disease-Polygenic meets monogenic.
Halbritter J·Nephrol Ther
2021Review
TRP channels in the digestive system.
Holzer P·Curr Pharm Biotechnol
2011Review
Expression and prognostic roles of TRPV5 and TRPV6 in non-small cell lung cancer after curative resection.
Fan H et al.·Asian Pac J Cancer Prev
2014
The roles of transient receptor potential vanilloid in autoimmune diseases.
Xiao Y et al.·Autoimmun Rev
2025Review
Advances in the Study for Modulators of Transient Receptor Potential Vanilloid (TRPV) Channel Family.
Wang Y et al.·Curr Top Med Chem
2025Review
The Role of TRP Channels in Colitis and Inflammatory Bowel Disease: A Systematic Review.
Dvornikova KA et al.·Int J Mol Sci
2025Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools