DHRS7C

Chr 17

dehydrogenase/reductase 7C

Also known as: SDR32C2

NCBI Gene: 201140ENSG00000184544UniProt: A6NNS2OMIM: 616161

This NADH-dependent oxidoreductase catalyzes the oxidation of all-trans-retinol to all-trans-retinal and regulates calcium homeostasis in cardiac and skeletal muscle by controlling calcium release from the sarcoplasmic reticulum. The gene is not highly constrained against loss-of-function variants, but no definitive human disease associations have been established in the provided data. Additional clinical and genetic studies would be needed to determine specific disease phenotypes and inheritance patterns associated with DHRS7C mutations.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.50
Clinical Summary— DHRS7C
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 unique Pathogenic / Likely Pathogenic· 52 VUS of 65 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.50LOEUF
pLI 0.000
Z-score 0.23
OE 0.93 (0.59–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.35Z-score
OE missense 0.93 (0.81–1.05)
163 obs / 176.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.93 (0.59–1.50)
0≤0.351.4
Missense OE0.93 (0.81–1.05)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 12 / 12.9Missense obs/exp: 163 / 176.1Syn Z: -0.06
DN
0.74top 25%
GOF
0.6346th %ile
LOF
0.3162th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

65 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
VUS52
Benign2
10
Pathogenic
52
VUS
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
0
0
0
VUS
0
47
5
0
52
Likely Benign
0
0
0
0
0
Benign
0
0
2
0
2
Total04717064

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

View in ClinVar →

Protein Context — Lollipop Plot

DHRS7C · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients