DHRS7B

Chr 17

dehydrogenase/reductase 7B

Also known as: CGI-93, PexRAP, SDR32C1

NCBI Gene: 25979ENSG00000109016UniProt: Q6IAN0OMIM: 616160

The DHRS7B protein is a reductase that converts dihydroxyacetone-phosphate into glycerolipids and ether lipids for adipogenesis and also regulates adipocyte differentiation by interacting with PRDM16 in the nucleus. Mutations cause autosomal recessive intellectual disability with seizures and brain abnormalities. This gene is not highly constrained against loss-of-function variation.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.50
Clinical Summary— DHRS7B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
5 unique Pathogenic / Likely Pathogenic· 56 VUS of 70 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 0.19
OE 0.94 (0.61–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.75Z-score
OE missense 0.85 (0.75–0.97)
168 obs / 197.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.94 (0.61–1.50)
0≤0.351.4
Missense OE0.85 (0.75–0.97)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 13 / 13.8Missense obs/exp: 168 / 197.6Syn Z: 0.27
DN
0.7326th %ile
GOF
0.5661th %ile
LOF
0.3065th %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

70 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
VUS56
Likely Benign4
5
Pathogenic
56
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
0
0
0
VUS
1
46
9
0
56
Likely Benign
0
3
0
1
4
Benign
0
0
0
0
0
Total14914165

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

View in ClinVar →

Protein Context — Lollipop Plot

DHRS7B · 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 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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