GABPB2

Chr 1

GA binding protein transcription factor subunit beta 2

Also known as: GABPB-2

NCBI Gene: 126626ENSG00000143458UniProt: Q06547

Enables transcription cis-regulatory region binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
DN
Mechanism· predicted
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?
0.88LOEUF
pLI 0.000
Z-score 1.99
OE 0.54 (0.35–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.85Z-score
OE missense 0.85 (0.76–0.95)
206 obs / 243.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.35–0.88)
0≤0.351.4
Missense OE?0.85 (0.76–0.95)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 12 / 22.1Missense obs/exp: 206 / 243.1Syn Z: 1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GABPB2 · 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 →

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