GPR27

Chr 3

G protein-coupled receptor 27

Also known as: SREB1

NCBI Gene: 2850ENSG00000170837UniProt: Q9NS67

GPR27 encodes an orphan G protein-coupled receptor with 7 transmembrane domains that may function as an amine-like receptor, though its specific ligand and signaling pathway remain unknown. Currently, no human diseases have been definitively associated with GPR27 mutations in the medical literature. The gene shows moderate tolerance to loss-of-function variation (pLI 0.35, LOEUF 1.05), suggesting it may not be essential for normal human development.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
15
P/LP submissions
0%
P/LP missense
1.05
LOEUF
GOF
Mechanism· predicted
Clinical Summary— GPR27
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
📋
ClinVar Variants
15 unique Pathogenic / Likely Pathogenic· 56 VUS of 72 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
1.05LOEUF
pLI 0.347
Z-score 1.53
OE 0.22 (0.08–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.60Z-score
OE missense 0.64 (0.55–0.76)
102 obs / 158.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.22 (0.08–1.05)
0≤0.351.4
Missense OE0.64 (0.55–0.76)
0≤0.61.4
Synonymous OE1.23
0≤1.21.6
LoF obs/exp: 1 / 4.5Missense obs/exp: 102 / 158.8Syn Z: -1.65
DN
0.5771th %ile
GOF
0.78top 25%
LOF
0.4331th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

72 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS56
14
Pathogenic
1
Likely Pathogenic
56
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
1
0
1
VUS
0
49
7
0
56
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total04922071

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

View in ClinVar →

Protein Context — Lollipop Plot

GPR27 · protein map & ClinVar variants

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

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 1 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