BCL2L10

Chr 15

BCL2 like 10

Also known as: BCL-B, Boo, Diva, bcl2-L-10

NCBI Gene: 10017 ENSG00000137875 UniProt: Q9HD36 OMIM: 606910

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.74

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.74LOEUF

pLI 0.011

Z-score 0.41

OE 0.78 (0.35–1.74)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.31Z-score

OE missense 0.92 (0.78–1.08)

106 obs / 115.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.78 (0.35–1.74)

0≤0.351.4

Missense OE?0.92 (0.78–1.08)

0≤0.61.4

Synonymous OE?1.25

0≤1.21.6

LoF obs/exp: 3 / 3.9Missense obs/exp: 106 / 115.3Syn Z: -1.49

Background carrier burden — how many people carry a rare variant somewhere in BCL2L10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

407 rare PASS variants

Rare truncating (LoF)

1 in 1,700

68 rare PASS variants

Rare synonymous (reference)

1 in 660

161 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BCL2L10. 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 300	1 in 1,900
South Asian	~43k	1 in 140	1 in 1,600
Remaining (unassigned)	~30k	1 in 120	1 in 1,500
European (Finnish)	~27k	1 in 800	1 in 4,300
Admixed American	~22k	1 in 160	1 in 1,100
African / African American	~21k	1 in 140	1 in 1,400
East Asian	~20k	1 in 170	1 in 840
Ashkenazi Jewish	~13k	1 in 720	none seen
Middle Eastern	~2,884	1 in 300	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): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓