Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5063
Gene name	P21 (RAC1) activated kinase 3
Gene symbol	PAK3
Synonyms (NCBI Gene)	ARAMRX30MRX47OPHN3PAK-3PAK3betaXLID30bPAKbeta-PAK
Chromosome	X
Chromosome location	Xq23
Summary	The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic s

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434611	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs121434612	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121434613	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121434614	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs200474454	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs780775497	C>A,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs1556298136	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1556298855	T>G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1569398769	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1569398792	G>A	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1569459580	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1603373827	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1603377813	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1603378331	T>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018369	hsa-miR-335-5p	Microarray	18185580
MIRT662985	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT662984	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT662983	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT662982	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT662981	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT662980	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT662979	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT662978	hsa-miR-582-5p	HITS-CLIP	23824327
MIRT662977	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT655488	hsa-miR-4753-5p	HITS-CLIP	23824327
MIRT655487	hsa-miR-2278	HITS-CLIP	23824327
MIRT655486	hsa-miR-8063	HITS-CLIP	23824327
MIRT655485	hsa-miR-4698	HITS-CLIP	23824327
MIRT655484	hsa-miR-3183	HITS-CLIP	23824327
MIRT655483	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT655482	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT655481	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT655480	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT655478	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT655479	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT655477	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT655476	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT655475	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT655474	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT655473	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT655472	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT655466	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT655471	hsa-miR-6890-5p	HITS-CLIP	23824327
MIRT655470	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT655469	hsa-miR-1273f	HITS-CLIP	23824327
MIRT655468	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT655467	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT655466	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT655465	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT655464	hsa-miR-3170	HITS-CLIP	23824327
MIRT655463	hsa-miR-6855-5p	HITS-CLIP	23824327
MIRT655462	hsa-miR-3149	HITS-CLIP	23824327
MIRT662985	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT662984	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT662983	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT662982	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT662981	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT662980	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT662979	hsa-miR-101-3p	HITS-CLIP	23824327
MIRT662978	hsa-miR-582-5p	HITS-CLIP	23824327
MIRT662977	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT655488	hsa-miR-4753-5p	HITS-CLIP	23824327
MIRT655487	hsa-miR-2278	HITS-CLIP	23824327
MIRT655486	hsa-miR-8063	HITS-CLIP	23824327
MIRT655485	hsa-miR-4698	HITS-CLIP	23824327
MIRT655484	hsa-miR-3183	HITS-CLIP	23824327
MIRT655483	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT655482	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT655481	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT655480	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT655478	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT655479	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT655477	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT655476	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT655475	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT655474	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT655473	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT655472	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT655466	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT655471	hsa-miR-6890-5p	HITS-CLIP	23824327
MIRT655470	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT655469	hsa-miR-1273f	HITS-CLIP	23824327
MIRT655468	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT655467	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT655466	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT655465	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT655464	hsa-miR-3170	HITS-CLIP	23824327
MIRT655463	hsa-miR-6855-5p	HITS-CLIP	23824327
MIRT655462	hsa-miR-3149	HITS-CLIP	23824327
MIRT756125	hsa-miR-193a-3p	Luciferase reporter assayqRT-PCR	35273739
MIRT1211551	hsa-miR-3074-5p	CLIP-seq
MIRT1211552	hsa-miR-3124-3p	CLIP-seq
MIRT1211553	hsa-miR-3190	CLIP-seq
MIRT1211554	hsa-miR-4659a-3p	CLIP-seq
MIRT1211555	hsa-miR-4659b-3p	CLIP-seq
MIRT1211556	hsa-miR-511	CLIP-seq
MIRT1211557	hsa-miR-539	CLIP-seq
MIRT1211558	hsa-miR-574-5p	CLIP-seq
MIRT1211559	hsa-miR-580	CLIP-seq
MIRT1211560	hsa-miR-648	CLIP-seq
MIRT2060735	hsa-miR-550b	CLIP-seq
MIRT2060736	hsa-miR-622	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
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:0003824	Function	Catalytic activity	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004708	Function	MAP kinase kinase activity	IDA	21177870
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	ISS
GO:0009267	Process	Cellular response to starvation	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016358	Process	Dendrite development	ISS
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IDA	21177870
GO:0031267	Function	Small GTPase binding	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0050770	Process	Regulation of axonogenesis	IBA
GO:0050808	Process	Synapse organization	TAS	19036346
GO:0060996	Process	Dendritic spine development	IEA
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0060997	Process	Dendritic spine morphogenesis	TAS	19036346
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA

MIM	HGNC	e!Ensembl
300142	8592	ENSG00000077264

O75914

Protein name

Serine/threonine-protein kinase PAK 3 (EC 2.7.11.1) (Beta-PAK) (Oligophrenin-3) (p21-activated kinase 3) (PAK-3)

Protein 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

PDB

6FD3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00786	PBD	69 → 142	P21-Rho-binding domain	Domain
PF00069	Pkinase	283 → 534	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to the nervous system. Highly expressed in postmitotic neurons of the developing and postnatal cerebral cortex and hippocampus. {ECO:0000269|PubMed:12890786}.

Sequence

MSDGLDNEEKPPAPPLRMNSNNRDSSALNHSSKPLPMAPEEKNKKARLRSIFPGGGDKTN
KKKEKERPEISLPSDFEHTIHVGFDAVTGEFTPDLYGSQMCPGKLPEGIPEQWARLLQTS
NITKLEQKKNPQAVLDVLKFYDSKETVNNQKYMSFTSGDKSAHGYIAAHPSSTKTASEPP
LAPPVSEEEDEEEEEEEDENEPPPVIAPRPEHTKSIYTRSVVESIASPAVPNKEVTPPSA
ENANSSTLYRNTDRQRKKSKMTDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYTA
LDIATGQEVAIKQMNLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYL
AGGSLTDVVTETCMDEGQIAAVCRECLQALDFLHSNQVIHRDIKSDNILLGMDGSVKLTD
FGFCAQITPEQSKRSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMVEGEPPYLNE
NPLRALYLIATNGTPELQNPERLSAVFRDFLNRCLEMDVDRRGSAKELLQHPFLKLAKPL
SSLTPLIIAAKEAIKNSSR

Sequence length

559

Interactions

View interactions

	KEGG		Reactome
	ErbB signaling pathway Ras signaling pathway Axon guidance Focal adhesion T cell receptor signaling pathway Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection Human immunodeficiency virus 1 infection Renal cell carcinoma		Generation of second messenger molecules CD28 dependent Vav1 pathway Ephrin signaling Sema3A PAK dependent Axon repulsion VEGFR2 mediated vascular permeability CD209 (DC-SIGN) signaling RHO GTPases activate PAKs MAPK6/MAPK4 signaling

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
History of neurodevelopmental disorder	Likely pathogenic	rs1569398792	RCV000721067	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1569459580, rs1603373827	RCV000768415 RCV000844885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 30	Likely pathogenic; Pathogenic	rs2149325212, rs2524214246, rs2523366577, rs121434611, rs121434612, rs121434613, rs121434614, rs2523686609, rs2523369005, rs780775497, rs1603378331, rs1603377813, rs2093969640	RCV001526528 RCV002285199 RCV003223546 RCV000012324 RCV000012325 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic	rs1603373827	RCV000844885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1569459580	RCV005897355	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Congenital anomaly of kidney and urinary tract	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 30	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PAK3-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SYNDROMIC INTELLECTUAL DISABILITY	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PAK3 (p21 (RAC1) activated kinase 3)