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0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PAK3
p21 (RAC1) activated kinase 3
Chromosome X · Xq23
NCBI Gene: 5063Ensembl: ENSG00000077264.18HGNC: HGNC:8592UniProt: B2RCU6
100PubMed Papers
21Diseases
0Drugs
30Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-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 Associationsⓘ21
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 Variants30
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.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
NM_002578.5(PAK3):c.976G>C (p.Val326Leu)Pathogenic
Microcephaly;Intellectual disability
★☆☆☆2019→ Residue 326
View on ClinVar ↗
Related Genes
GIT2Protein interaction100%CDC42Protein interaction99%ARHGEF6Protein interaction97%LIMK1Protein interaction96%LIMK2Protein interaction96%MYO6Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Ovary
19%
Heart
4%
Liver
4%
Lung
3%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
PAK3GIT2CDC42ARHGEF6LIMK1LIMK2MYO6
PROTEIN STRUCTURE
Preparing viewer…
PDB6FD3 · 1.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.22]
RankingsWhere PAK3 stands among ~20K protein-coding genes
  • #4,795of 20,598
    Most Researched100 · top quartile
  • #1,803of 5,498
    Most Pathogenic Variants30
  • #590of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedPAK3
Sources retrieved0 papers
Response time—