• 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)