BNIPL

Chr 1

BCL2 interacting protein like

Also known as: BNIP-S, BNIP-Salpha, BNIP-Sbeta, BNIPL-1, BNIPL-2, BNIPL1, BNIPL2, BNIPS

NCBI Gene: 149428ENSG00000163141UniProt: Q7Z465OMIM: 611275

The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.000
Z-score 0.84
OE 0.80 (0.55–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.92Z-score
OE missense 0.82 (0.72–0.93)
169 obs / 206.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.80 (0.55–1.20)
0≤0.351.4
Missense OE?0.82 (0.72–0.93)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 17 / 21.2Missense obs/exp: 169 / 206.1Syn Z: 0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BNIPL · 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