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PAK3 |
Gene Facts External Data Attribution
- HGNC Symbol
- PAK3 (HGNC:8592) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- p21 (RAC1) activated kinase 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MRX30, MRX47
- Alias symbols
- hPAK3, bPAK
- %HI
- 5.06(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.29(Read more about gnomAD LOEUF score)
- Cytoband
- Xq23
- Genomic Coordinates
-
GRCh37/hg19: chrX:110187625-110470589 NCBI Ensembl UCSC GRCh38/hg38: chrX:110944397-111227361 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002578.5 ENST00000372007.10 (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 migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as a downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Pho... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29546
ClinGen Curation ID:
CCID:007612
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Related Links:
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
