Gene
PAK2
p21 (RAC1) activated kinase 2
- HGNC 8591↗(opens in a new tab)
- Ensembl gene ENSG00000180370↗(opens in a new tab)
- NCBI Gene 5062↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q29
- Coordinates
- Chromosome 3: 196,739,857–196,832,647 (GRCh38)
- Exons
- 15 exons across 92.8 kb
- Protein
- 524 amino acids
- Also known as
- PAK65, PAKgamma
- MANE Select transcript
- ENST00000327134.7NM_002577.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Vitreoretinopathy
- Vitreoretinal Degeneration
- 1 GenCC submitter rates it definitive or strong
How PAK2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 6.1 kb of the gene's 92.8 kb; 1,575 of those bases code for the protein.
How a genome test reads PAK2
2
positions in PAK2 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 92.8 kb of PAK2, introns included, not only the 6.1 kb of exons.
Genes linked to the same conditions
- BEST1bestrophin 1Shares 1 condition
- CAPN5calpain 5Shares 1 condition
- COL11A1collagen type XI alpha 1 chainShares 1 condition
- COL18A1collagen type XVIII alpha 1 chainShares 1 condition
- COL2A1collagen type II alpha 1 chainShares 1 condition
- COL9A1collagen type IX alpha 1 chainShares 1 condition
- COL9A2collagen type IX alpha 2 chainShares 1 condition
- COL9A3collagen type IX alpha 3 chainShares 1 condition
- CTNNB1catenin beta 1Shares 1 condition
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 1 condition
- FZD4frizzled class receptor 4Shares 1 condition
- KCNJ13potassium inwardly rectifying channel subfamily J member 13Shares 1 condition
Traits linked to PAK2
The Human Phenotype Ontology lists these as features of the rare conditions PAK2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). PAK2 gene: p21 (RAC1) activated kinase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/pak2
Dante Labs. PAK2 gene: p21 (RAC1) activated kinase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pak2
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