BIN2

Chr 12

bridging integrator 2

Also known as: BRAP-1

NCBI Gene: 51411ENSG00000110934UniProt: Q9UBW5

Enables phospholipid binding activity. Involved in several processes, including phagocytosis, engulfment; plasma membrane tubulation; and podosome assembly. Located in phagocytic cup and podosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
42
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
Multiple*
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?
0.97LOEUF
pLI 0.000
Z-score 1.68
OE 0.68 (0.48–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.06Z-score
OE missense 0.83 (0.75–0.92)
252 obs / 304.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.48–0.97)
0≤0.351.4
Missense OE?0.83 (0.75–0.92)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 21 / 31.1Missense obs/exp: 252 / 304.0Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BIN2 · 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