BNIP2

Chr 15

BCL2 interacting protein 2

Also known as: BNIP-2, NIP2

NCBI Gene: 663 ENSG00000140299 UniProt: Q12982 OMIM: 603292

This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.85LOEUF

pLI 0.000

Z-score 2.06

OE 0.50 (0.31–0.85)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.25Z-score

OE missense 1.05 (0.94–1.17)

233 obs / 222.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.50 (0.31–0.85)

0≤0.351.4

Missense OE?1.05 (0.94–1.17)

0≤0.61.4

Synonymous OE?1.34

0≤1.21.6

LoF obs/exp: 10 / 19.9Missense obs/exp: 233 / 222.6Syn Z: -2.44

Background carrier burden — how many people carry a rare variant somewhere in BNIP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 88

718 rare PASS variants

Rare truncating (LoF)

1 in 720

136 rare PASS variants

Rare synonymous (reference)

1 in 200

299 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BNIP2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 150	1 in 1,100
South Asian	~43k	1 in 100	1 in 370
Remaining (unassigned)	~30k	1 in 75	1 in 390
European (Finnish)	~27k	1 in 570	1 in 2,600
Admixed American	~22k	1 in 120	1 in 1,300
African / African American	~21k	1 in 83	1 in 730
East Asian	~20k	1 in 140	1 in 250
Ashkenazi Jewish	~13k	1 in 330	≈ 1 in 2,800
Middle Eastern	~2,884	1 in 140	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 9 coding exons well covered in gnomAD exomes; exons 8, 10 marginal. Genomes: all 9.? see exons ↓