ITPKA

Chr 15

inositol-trisphosphate 3-kinase A

Also known as: IP3-3KA, IP3KA

NCBI Gene: 3706 ENSG00000137825 UniProt: P23677 OMIM: 147521

Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

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 ITPKA?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

592 rare PASS variants

Rare truncating (LoF)

1 in 6,600

46 rare PASS variants

Rare synonymous (reference)

1 in 180

328 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ITPKA. 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 7,200
South Asian	~43k	1 in 130	1 in 5,800
Remaining (unassigned)	~30k	1 in 180	≈ 1 in 29,000
European (Finnish)	~27k	1 in 380	1 in 4,500
Admixed American	~22k	1 in 140	1 in 3,200
African / African American	~21k	1 in 190	≈ 1 in 8,700
East Asian	~20k	1 in 170	none seen
Ashkenazi Jewish	~13k	1 in 1,400	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 210	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): 5 of 7 coding exons well covered in gnomAD exomes; exons 1, 5 marginal. Genomes: 6 of 7 (exon 2 below).? see exons ↓