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Gene Gene information from NCBI Gene database.
Entrez ID 5062
Gene name P21 (RAC1) activated kinase 2
Gene symbol PAK2
Synonyms (NCBI Gene)
KNO2PAK65PAKgamma
Chromosome 3
Chromosome location 3q29
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 an
miRNA miRNA information provided by mirtarbase database.
1341 Show/Hide all (1341)
miRTarBase ID miRNA Experiments Reference
MIRT020989 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT041405 hsa-miR-193b-3p CLASH 23622248
MIRT041157 hsa-miR-500a-3p CLASH 23622248
MIRT438618 hsa-miR-224-5p qRT-PCR 22989374
MIRT438618 hsa-miR-224-5p qRT-PCR 22989374
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69 Show/Hide all (69)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway IEA
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
GO:0003300 Process Cardiac muscle hypertrophy IEA
GO:0003824 Function Catalytic activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605022 8591 ENSG00000180370
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13177
Protein name Serine/threonine-protein kinase PAK 2 (EC 2.7.11.1) (Gamma-PAK) (PAK65) (S6/H4 kinase) (p21-activated kinase 2) (PAK-2) (p58) [Cleaved into: PAK-2p27 (p27); PAK-2p34 (p34) (C-t-PAK2)]
Protein 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:12853446, PubMed:16617111, PubMed:1927359
PDB 3PCS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00786 PBD 73 → 131 P21-Rho-binding domain Domain
PF00069 Pkinase 249 → 500 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Higher levels seen in skeletal muscle, ovary, thymus and spleen. {ECO:0000269|PubMed:7744004}.
Sequence
MSDNGELEDKPPAPPVRMSSTIFSTGGKDPLSANHSLKPLPSVPEEKKPRHKIISIFSGT
EKGSKKKEKERPEISPPSDFEHTIHVGFDAVTGEFTGMPEQWARLLQTSNITKLEQKKNP
QAVLDVLKFYD
SNTVKQKYLSFTPPEKDGFPSGTPALNAKGTEAPAVVTEEEDDDEETAP
PVIAPRPDHTKSIYTRSVIDPVPAPVGDSHVDGAAKSLDKQKKKTKMTDEEIMEKLRTIV
SIGDPKKKYTRYEKIGQGASGTVFTATDVALGQEVAIKQINLQKQPKKELIINEILVMKE
LKNPNIVNFLDSYLVGDELFVVMEYLAGGSLTDVVTETCMDEAQIAAVCRECLQALEFLH
ANQVIHRDIKSDNVLLGMEGSVKLTDFGFCAQITPEQSKRSTMVGTPYWMAPEVVTRKAY
GPKVDIWSLGIMAIEMVEGEPPYLNENPLRALYLIATNGTPELQNPEKLSPIFRDFLNRC
LEMDVEKRGSAKELLQHPFL
KLAKPLSSLTPLIMAAKEAMKSNR
Sequence length 524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
MAPK signaling pathway Nef and signal transduction
ErbB signaling pathway Generation of second messenger molecules
Ras signaling pathway FCERI mediated MAPK activation
Axon guidance CD28 dependent Vav1 pathway
Focal adhesion Ephrin signaling
T cell receptor signaling pathway Sema3A PAK dependent Axon repulsion
Regulation of actin cytoskeleton VEGFA-VEGFR2 Pathway
Pathogenic Escherichia coli infection Smooth Muscle Contraction
Human immunodeficiency virus 1 infection VEGFR2 mediated vascular permeability
Renal cell carcinoma CD209 (DC-SIGN) signaling
  RHO GTPases activate PAKs
  MAPK6/MAPK4 signaling
  Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Knobloch syndrome Pathogenic rs2108773003 RCV002267712
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Knobloch syndrome 2 Likely pathogenic rs2474001104 RCV003764498
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 21116278, 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
29892015, 40050429, 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KNOBLOCH SYNDROME TYPE II — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PAK2-related disorder Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROTEINURIA — CTD 20071462
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations