CDC42BPG

Chr 11

CDC42 binding protein kinase gamma

Also known as: DMPK2, HSMDPKIN, KAPPA-200, MRCKG, MRCKgamma

NCBI Gene: 55561 ENSG00000171219 UniProt: Q6DT37 OMIM: 613991

The protein functions as a serine/threonine kinase that acts downstream of CDC42 to regulate cytoskeletal reorganization and actomyosin contractility through phosphorylation of regulatory proteins. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and motor dysfunction, following an autosomal dominant inheritance pattern. The gene shows low constraint against loss-of-function variants, suggesting the associated phenotypes may not result from simple protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cell leading edge and cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.84LOEUF

pLI 0.000

Z-score 2.75

OE 0.67 (0.53–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.34Z-score

OE missense 0.88 (0.83–0.93)

836 obs / 952.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.67 (0.53–0.84)

0≤0.351.4

Missense OE?0.88 (0.83–0.93)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 53 / 79.4Missense obs/exp: 836 / 952.3Syn Z: -1.19

Background carrier burden — how many people carry a rare variant somewhere in CDC42BPG?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 23

2,117 rare PASS variants

Rare truncating (LoF)

1 in 410

330 rare PASS variants

Rare synonymous (reference)

1 in 34

1,034 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CDC42BPG. 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 32	1 in 570
South Asian	~43k	1 in 21	1 in 290
Remaining (unassigned)	~30k	1 in 22	1 in 740
European (Finnish)	~27k	1 in 77	1 in 920
Admixed American	~22k	1 in 22	1 in 830
African / African American	~21k	1 in 21	1 in 550
East Asian	~20k	1 in 27	1 in 570
Ashkenazi Jewish	~13k	1 in 89	1 in 1,000
Middle Eastern	~2,884	1 in 20	1 in 570

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 33 of 37 coding exons well covered in gnomAD exomes; exons 1, 24, 35, 37 marginal. Genomes: 35 of 37 (exons 1, 11 below).? see exons ↓