PAK2 |
- 1
Haplo
Score - 1
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PAK2 (HGNC:8591) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- p21 (RAC1) activated kinase 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PAK65, PAKgamma
- %HI
- 16.98(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.32(Read more about gnomAD LOEUF score)
- Cytoband
- 3q29
- Genomic Coordinates
-
GRCh37/hg19: chr3:196466728-196559518 NCBI Ensembl UCSC GRCh38/hg38: chr3:196739857-196832647 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002577.4 ENST00000327134.7 (Read more about MANE Select)
- Function
- Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation (PubMed:7744004, PubMed:19273597, PubMed:19923322, PubMed:9171063, PubMed:12853446, PubMed:16617111, PubMed:33693784). Acts as a downstream effector of the small GTPases CDC42 and RAC1 (PubMed:7744004). Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequen... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25379
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
Little Evidence for Triplosensitivity
(1)
Last Evaluated:
12/27/2011
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
PMID:21841781
In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed losses of PAK2 was 6/15,767 cases vs 0/8,329 controls. These deletions were likely not focal and included surrounding genes.
HI Evidence Comments:
PMID 15918153, 20830797: Haploinsufficiency for PAK2 has been hypothesized to contribute to certain clinical manifestations (e.g. autism) of Chromosome 3q29 deletion syndrome (MIM# 609425).
Triplosensitivity (TS) Score Details
TS Score:
1
TS Evidence Strength:
Little Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
-
PUBMED: PMID:21841781
In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed gains of PAK2 was 7/15,767 cases vs 0/8,329 controls. These duplications were likely not focal and included surrounding genes.
TS Evidence Comments:
PAK2 may be linked to features of Chromosome 3q29 Duplication Syndrome (MIM# 611936). However, amongst a cohort of 19 individuals with duplications of 3q29, duplication breakpoints were variable (PMID 18471269) and thus, this syndrome may not always involve PAK2.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)