GABRP

Chr 5

gamma-aminobutyric acid type A receptor subunit pi

NCBI Gene: 2568ENSG00000094755UniProt: O00591

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

81
ClinVar variants
14
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— GABRP
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 59 VUS of 81 total submissions

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.
1.41LOEUF
pLI 0.000
Z-score 0.14
OE 0.97 (0.68–1.41)
Tolerant

Highly tolerant — LoF variants common in population

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.
0.16Z-score
OE missense 0.97 (0.87–1.08)
242 obs / 249.3 exp
Tolerant

Mild missense constraint

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.0.97 (0.68–1.41)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.87–1.08)
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.1.13
0≤1.21.6
LoF obs/exp: 20 / 20.7Missense obs/exp: 242 / 249.3Syn Z: -0.99

ClinVar Variant Classifications

81 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS59
Likely Benign7
Benign1
14
Pathogenic
59
VUS
7
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
1
52
6
0
59
Likely Benign
0
5
2
0
7
Benign
0
1
0
0
1
Total15822081

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

View in ClinVar →

Protein Context — Lollipop Plot

GABRP · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
GABRP Mediates GABA-A Receptor to Shape Tumor Immunosuppressive Microenvironment and Promote Tumor Immune Escape and Corresponding Targeted Therapy.
Cen W et al.·Cancer Med
2025
Aberrant epigenetic regulation of GABRP associates with aggressive phenotype of ovarian cancer.
Sung HY et al.·Exp Mol Med
2017
Integrative computational modeling to unravel novel potential biomarkers in hepatocellular carcinoma.
Walakira A et al.·Comput Biol Med
2023Meta-analysis
Gamma-Aminobutyric Acid Type A Receptor Subunit Pi is a potential chemoresistance regulator in colorectal cancer.
Wang T et al.·Mol Biol Rep
2023
GABRP sustains the stemness of triple-negative breast cancer cells through EGFR signaling.
Li X et al.·Cancer Lett
2021
GABA(A) receptor pi (GABRP) stimulates basal-like breast cancer cell migration through activation of extracellular-regulated kinase 1/2 (ERK1/2).
Sizemore GM et al.·J Biol Chem
2014
Placental transcriptomic signatures of spontaneous preterm birth.
Paquette AG et al.·Am J Obstet Gynecol
2023
Multi-omics unravel heterogeneity of glucose metabolism reprogramming in gastric cancer.
Liang L et al.·Clin Exp Med
2025
MiR-320c prevents the malignant development of cervical cancer by regulating GABRP level.
Li Y et al.·Eur Rev Med Pharmacol Sci
2020
Genetic variants associated with immune-mediated liver injury from checkpoint inhibitors.
Fontana RJ et al.·Hepatol Commun
2024
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