PLCB2

Chr 15

phospholipase C beta 2

Also known as: PLC-beta-2

NCBI Gene: 5330 ENSG00000137841 UniProt: Q00722 OMIM: 604114

The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Platelet PLC beta-2 deficiency

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

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 PLCB2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 41

1,511 rare PASS variants

Rare truncating (LoF)

1 in 370

241 rare PASS variants

Rare synonymous (reference)

1 in 71

649 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PLCB2. 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 51	1 in 910
South Asian	~43k	1 in 38	1 in 390
Remaining (unassigned)	~30k	1 in 36	1 in 970
European (Finnish)	~27k	1 in 130	1 in 850
Admixed American	~22k	1 in 45	1 in 570
African / African American	~21k	1 in 35	1 in 390
East Asian	~20k	1 in 40	1 in 200
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 32	1 in 410

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.