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Gene

PAK3

p21 (RAC1) activated kinase 3

Summary

Cytogenetic location
Xq23
Coordinates
Chromosome X: 111,096,191–111,227,361 (GRCh38)
Exons
18 exons across 131.2 kb
Protein
544 amino acids
Also known as
hPAK3, bPAK
Previous symbols
MRX30, MRX47
MANE Select transcript
ENST00000372007.10NM_002578.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Epilepsy (Full Panel)

    • X-Linked Complex Neurodevelopmental Disorder

      A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

Broader groupings

How PAK3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where PAK3 sits. PAK3 and 4 genes near it on chromosome X, from 110,661,776 to 111,661,775.Chromosome XXq23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28110.8 Mb111 Mb111.2 Mb111.4 Mb111.6 MbCHRDL1: 110,673,856–110,796,192, reverse strandCHRDL1PAK3: 111,096,191–111,227,361, forward strandPAK3CAPN6: 111,245,099–111,270,550, reverse strandCAPN6DCX: 111,293,779–111,412,429, reverse strandDCXSERTM2: 111,511,645–111,522,473, forward strandSERTM2Diagram of PAK3: 18 exons on the forward strand of chromosome XExon 7: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 16: 4 known disease-causing sitesExon 1: 111,096,191–111,096,415, 225 basesExon 2: 111,097,390–111,097,456, 67 basesExon 3: 111,097,575–111,097,684, 110 basesExon 4: 111,103,159–111,103,306, 148 basesExon 5: 111,123,077–111,123,278, 202 basesExon 6: 111,142,096–111,142,196, 101 basesExon 7: 111,147,737–111,147,890, 154 basesExon 8: 111,152,410–111,152,447, 38 basesExon 9: 111,162,915–111,163,046, 132 basesExon 10: 111,163,562–111,163,727, 166 basesExon 11: 111,173,018–111,173,081, 64 basesExon 12: 111,192,127–111,192,175, 49 basesExon 13: 111,192,506–111,192,618, 113 basesExon 14: 111,194,301–111,194,418, 118 basesExon 15: 111,195,842–111,195,941, 100 basesExon 16: 111,196,444–111,196,640, 197 basesExon 17: 111,216,421–111,216,558, 138 basesExon 18: 111,220,358–111,227,361, 7,004 bases151015185′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 9.1 kb of the gene's 131.2 kb; 1,635 of those bases code for the protein.

How a genome test reads PAK3

15

positions in PAK3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 131.2 kb of PAK3, introns included, not only the 9.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PAK3 gene: p21 (RAC1) activated kinase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/pak3

Vancouver

Dante Labs. PAK3 gene: p21 (RAC1) activated kinase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pak3

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