BIRC2

Chr 11

baculoviral IAP repeat containing 2

Also known as: API1, HIAP2, Hiap-2, IAP-2, MIHB, RNF48, c-IAP1, cIAP1

NCBI Gene: 329 ENSG00000110330 UniProt: Q13490 OMIM: 601712

The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in BIRC2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

746 rare PASS variants

Rare truncating (LoF)

1 in 1,700

63 rare PASS variants

Rare synonymous (reference)

1 in 150

297 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BIRC2. 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 1,900
South Asian	~43k	1 in 91	1 in 1,700
Remaining (unassigned)	~30k	1 in 120	1 in 2,100
European (Finnish)	~27k	1 in 680	≈ 1 in 13,000
Admixed American	~22k	1 in 86	≈ 1 in 5,500
African / African American	~21k	1 in 72	1 in 3,000
East Asian	~20k	1 in 75	1 in 580
Ashkenazi Jewish	~13k	1 in 650	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 57	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.