DAPK2

Chr 15

death associated protein kinase 2

Also known as: DRP-1, DRP1

NCBI Gene: 23604 ENSG00000035664 UniProt: Q9UIK4 OMIM: 616567

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

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

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 DAPK2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

745 rare PASS variants

Rare truncating (LoF)

1 in 840

91 rare PASS variants

Rare synonymous (reference)

1 in 210

289 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DAPK2. 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 64	1 in 980
South Asian	~43k	1 in 47	1 in 970
Remaining (unassigned)	~30k	1 in 59	1 in 460
European (Finnish)	~27k	1 in 260	≈ 1 in 26,000
Admixed American	~22k	1 in 47	1 in 450
African / African American	~21k	1 in 53	1 in 1,200
East Asian	~20k	1 in 56	1 in 1,700
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 64	≈ 1 in 2,800

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 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓