The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.60
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.60LOEUF
pLI 0.000
Z-score -0.31
OE 1.08 (0.751.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.30Z-score
OE missense 1.07 (0.941.21)
166 obs / 155.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.08 (0.751.60)
00.351.4
Missense OE?1.07 (0.941.21)
00.61.4
Synonymous OE?1.45
01.21.6
LoF obs/exp: 18 / 16.6Missense obs/exp: 166 / 155.6Syn Z: -2.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BIN3 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →