PAK2 p21 (RAC1) activated kinase 2
Gene ID: 5062, updated on 17-Jun-2024Gene type: protein coding
Also known as: KNO2; PAK65; PAKgamma
- See all available tests in GTR for this gene
- Go to complete Gene record for PAK2
- Go to Variation Viewer for PAK2 variants
Summary
The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. GeneReviews: Not available | |
| Knobloch syndrome 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2011-12-27) ClinGen Genome Curation PagePubMedTriplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2011-12-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 3q29
- Sequence:
- Chromosome: 3; NC_000003.12 (196739857..196832647)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.