PAK3 — p21 (RAC1) activated kinase 3

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

100PubMed Papers

#4,770 · top 25% of 19K genes

21Diseases

top 14%

0Drugs

31Pathogenic Variants

top 33%

OMIM Disease GeneHighly ConstrainedKinaseExperimental GO EvidenceSwiss-Prot Reviewed

regulation of actin filament polymerizationprotein serine/threonine kinase activityprotein bindingMAP kinase kinase activityX-linked non-syndromic intellectual disabilityAgenesis of corpus callosumgenetic disorderIntellectual disability

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

p21 (RAC1) activated kinase 3

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

X-linked non-syndromic intellectual disabilityOpen Targets

0.74Strong

Agenesis of corpus callosumOpen Targets

0.60Moderate

genetic disorderOpen Targets

0.47Moderate

Intellectual disabilityOpen Targets

0.46Moderate

complex neurodevelopmental disorderOpen Targets

0.37Weak

X-linked syndromic intellectual disabilityOpen Targets

0.37Weak

microcephalyOpen Targets

0.34Weak

non-syndromic X-linked intellectual disabilityOpen Targets

0.15Weak

hepatocellular carcinomaOpen Targets

0.08Suggestive

lung cancerOpen Targets

0.08Suggestive

gastric cancerOpen Targets

0.08Suggestive

posterior cortical atrophyOpen Targets

0.08Suggestive

heart failureOpen Targets

0.05Suggestive

neoplasmOpen Targets

0.05Suggestive

cervical cancerOpen Targets

0.04Suggestive

gliomaOpen Targets

0.03Suggestive

Cognitive impairmentOpen Targets

0.03Suggestive

systemic sclerodermaOpen Targets

0.03Suggestive

lung carcinomaOpen Targets

0.03Suggestive

esophageal adenocarcinomaOpen Targets

0.03Suggestive

Intellectual developmental disorder, X-linked 30UniProt

Pathogenic Variants31

NM_002578.5(PAK3):c.1306C>T (p.Arg436Ter)Pathogenic

Intellectual disability, X-linked 30|Inborn genetic diseases

★★☆☆2025→ Residue 436

NM_002578.5(PAK3):c.298C>T (p.Arg100Ter)Pathogenic

Intellectual disability, X-linked 30|not provided

★★☆☆2021→ Residue 100

NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter)Pathogenic

Intellectual disability, X-linked 30|not provided

★★☆☆2021→ Residue 356

NM_002578.5(PAK3):c.1110+1G>TLikely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2025

NM_002578.5(PAK3):c.795_796delinsTT (p.Lys265_Lys266delinsAsnTer)Likely pathogenic

not provided

★☆☆☆2025→ Residue 265

NM_002578.5(PAK3):c.1519C>T (p.Arg507Ter)Likely pathogenic

not provided

★☆☆☆2025→ Residue 507

NM_002578.5(PAK3):c.199C>T (p.Arg67Cys)Pathogenic

Intellectual disability, X-linked 30|not provided

★☆☆☆2025→ Residue 67

NM_002578.5(PAK3):c.1268T>A (p.Val423Glu)Likely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2025→ Residue 423

NM_002578.5(PAK3):c.748G>T (p.Glu250Ter)Likely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2024→ Residue 250

NM_002578.5(PAK3):c.1279T>C (p.Tyr427His)Likely pathogenic

Intellectual disability

★☆☆☆2024→ Residue 427

NM_002578.5(PAK3):c.729dup (p.Ser244fs)Pathogenic

not provided

★☆☆☆2024→ Residue 244

NM_002578.5(PAK3):c.276+1G>TLikely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2024

NM_002578.5(PAK3):c.600+1G>CLikely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2024

NM_002578.5(PAK3):c.616del (p.Val206fs)Likely pathogenic

not provided

★☆☆☆2023→ Residue 206

NM_002578.5(PAK3):c.766+3G>TLikely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2023

NM_002578.5(PAK3):c.176-1G>ALikely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2023

NM_002578.5(PAK3):c.880G>A (p.Val294Met)Likely pathogenic

not provided

★☆☆☆2023→ Residue 294

NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu)Pathogenic

Intellectual disability, X-linked 30|not provided

★☆☆☆2022→ Residue 365

NM_002578.5(PAK3):c.1182del (p.Leu395fs)Likely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2022→ Residue 395

NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)Likely pathogenic

Intellectual disability, X-linked 30

★☆☆☆2020→ Residue 135

Tissue Expression6 tissues

Brain

100%

Ovary

19%

Heart

Liver

Lung

Bone Marrow

Gene Interaction Network6 neighbors

Click a node to explore

Structure1 PDB hit

Preparing viewer…

PDB6FD3 · 1.52 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.22Highly Constrained

pLIⓘ

1.00Intolerant

Observed/Expected LoF0.10 [0.05–0.22]

Rankings3 dim

Where PAK3 stands among ~20K protein-coding genes

#4,795of 20,598
Most Researched100 · top quartile
#1,786of 5,509
Most Pathogenic Variants31
#590of 17,882
Most Constrained (LOEUF)0.22 · top 5%