• Gene id: 5747

Gene Summary

• Gene Symbol: PTK2   Gene   UCSC   Ensembl
• Aliases: FADK, FAK, FAK1, FRNK, PPP1R71, p125FAK, pp125FAK
• Gene name: protein tyrosine kinase 2
• Alternate names: focal adhesion kinase 1, FADK 1, FAK-related non-kinase polypeptide, PTK2 protein tyrosine kinase 2, focal adhesion kinase isoform FAK-Del33, focal adhesion kinase-related nonkinase, protein phosphatase 1 regulatory subunit 71,
• Gene location: 8q24.3 (131281927: 131258077)     Exons: 5     NC_000009.12
• Gene summary(Entrez): This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protei
• OMIM: 600758

Protein Summary

• Protein general information: Q05397  
  • Name: Focal adhesion kinase 1 (FADK 1) (EC 2.7.10.2) (Focal adhesion kinase related nonkinase) (FRNK) (Protein phosphatase 1 regulatory subunit 71) (PPP1R71) (Protein tyrosine kinase 2) (p125FAK) (pp125FAK)
  • Length: 1052  
  • Mass: 119233
  • Tissue specificity: Detected in B and T-lymphocytes. Isoform 1 and isoform 6 are detected in lung fibroblasts (at protein level). Ubiquitous. {ECO
• Sequence:

  MAAAYLDPNLNHTPNSSTKTHLGTGMERSPGAMERVLKVFHYFESNSEPTTWASIIRHGDATDVRGIIQKIVDSH
  KVKHVACYGFRLSHLRSEEVHWLHVDMGVSSVREKYELAHPPEEWKYELRIRYLPKGFLNQFTEDKPTLNFFYQQ
  VKSDYMLEIADQVDQEIALKLGCLEIRRSYWEMRGNALEKKSNYEVLEKDVGLKRFFPKSLLDSVKAKTLRKLIQ
  QTFRQFANLNREESILKFFEILSPVYRFDKECFKCALGSSWIISVELAIGPEEGISYLTDKGCNPTHLADFTQVQ
  TIQYSNSEDKDRKGMLQLKIAGAPEPLTVTAPSLTIAENMADLIDGYCRLVNGTSQSFIIRPQKEGERALPSIPK
  LANSEKQGMRTHAVSVSETDDYAEIIDEEDTYTMPSTRDYEIQRERIELGRCIGEGQFGDVHQGIYMSPENPALA
  VAIKTCKNCTSDSVREKFLQEALTMRQFDHPHIVKLIGVITENPVWIIMELCTLGELRSFLQVRKYSLDLASLIL
  YAYQLSTALAYLESKRFVHRDIAARNVLVSSNDCVKLGDFGLSRYMEDSTYYKASKGKLPIKWMAPESINFRRFT
  SASDVWMFGVCMWEILMHGVKPFQGVKNNDVIGRIENGERLPMPPNCPPTLYSLMTKCWAYDPSRRPRFTELKAQ
  LSTILEEEKAQQEERMRMESRRQATVSWDSGGSDEAPPKPSRPGYPSPRSSEGFYPSPQHMVQTNHYQVSGYPGS
  HGITAMAGSIYPGQASLLDQTDSWNHRPQEIAMWQPNVEDSTVLDLRGIGQVLPTHLMEERLIRQQQEMEEDQRW
  LEKEERFLKPDVRLSRGSIDREDGSLQGPIGNQHIYQPVGKPDPAAPPKKPPRPGAPGHLGSLASLSSPADSYNE
  GVKLQPQEISPPPTANLDRSNDKVYENVTGLVKAVIEMSSKIQPAPPEEYVPMVKEVGLALRTLLATVDETIPLL
  PASTHREIEMAQKLLNSDLGELINKMKLAQQYVMTSLQQEYKKQMLTAAHALAVDAKNLLDVIDQARLKMLGQTR
  PH

• Structural information:
  • Protein Domains: (35..35-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (422..68-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR019749  IPR041390  IPR041784  IPR014352  IPR035963   IPR019748  IPR000299  IPR036137  IPR005189  IPR011009  IPR011993  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  IPR029071  
  • Prosite: PS00661 PS50057 PS00107 PS50011 PS00109
  • CDD: cd14473 cd13190
  • PDB: 1K04 1K05 1MP8 1OW6 1OW7 1OW8 2ETM 2IJM 3B71 3BZ3 3PXK 3S9O 4EBV 4EBW 4GU6 4GU9 4I4E 4I4F 4K8A 4K9Y 4KAB 4KAO 4NY0 4Q9S 6I8Z 6LES
  • PDBsum: 1K04 1K05 1MP8 1OW6 1OW7 1OW8 2ETM 2IJM 3B71 3BZ3 3PXK 3S9O 4EBV 4EBW 4GU6 4GU9 4I4E 4I4F 4K8A 4K9Y 4KAB 4KAO 4NY0 4Q9S 6I8Z 6LES
  • STRING: ENSP00000341189
• Other Databases: GeneCards:  PTK2  Malacards:  PTK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005178	integrin binding	IPI	molecular function
GO:0010763	positive regulation of fibroblast migration	IDA	biological process
GO:0090303	positive regulation of wound healing	IDA	biological process
GO:0120041	positive regulation of macrophage proliferation	IGI	biological process
GO:0010759	positive regulation of macrophage chemotaxis	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001525	angiogenesis	IBA	biological process
GO:0030155	regulation of cell adhesion	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0043197	dendritic spine	IBA	cellular component
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0036064	ciliary basal body	IDA	cellular component
GO:0033628	regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0005925	focal adhesion	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051493	regulation of cytoskeleton organization	TAS	biological process
GO:0048870	cell motility	TAS	biological process
GO:0045667	regulation of osteoblast differentiation	IMP	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0042127	regulation of cell population proliferation	IMP	biological process
GO:0030010	establishment of cell polarity	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0007229	integrin-mediated signaling pathway	IMP	biological process
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0001890	placenta development	TAS	biological process
GO:0001525	angiogenesis	TAS	biological process
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0051893	regulation of focal adhesion assembly	TAS	biological process
GO:0051893	regulation of focal adhesion assembly	TAS	biological process
GO:0045860	positive regulation of protein kinase activity	IMP	biological process
GO:0038007	netrin-activated signaling pathway	TAS	biological process
GO:0043087	regulation of GTPase activity	TAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0010594	regulation of endothelial cell migration	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003007	heart morphogenesis	TAS	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007172	signal complex assembly	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0007411	axon guidance	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007097	nuclear migration	IEA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0051964	negative regulation of synapse assembly	IEA	biological process
GO:0050771	negative regulation of axonogenesis	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0010507	negative regulation of autophagy	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001568	blood vessel development	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0046621	negative regulation of organ growth	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0008432	JUN kinase binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0060396	growth hormone receptor signaling pathway	IDA	biological process
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0001725	stress fiber	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001932	regulation of protein phosphorylation	IGI	biological process
GO:0051893	regulation of focal adhesion assembly	IGI	biological process
GO:0010632	regulation of epithelial cell migration	IGI	biological process
GO:1900024	regulation of substrate adhesion-dependent cell spreading	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa05205	Proteoglycans in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05418	Fluid shear stress and atherosclerosis
hsa05135	Yersinia infection
hsa04670	Leukocyte transendothelial migration
hsa04935	Growth hormone synthesis, secretion and action
hsa05222	Small cell lung cancer
hsa04012	ErbB signaling pathway
hsa01522	Endocrine resistance
hsa05146	Amoebiasis
hsa05100	Bacterial invasion of epithelial cells
hsa04370	VEGF signaling pathway
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Ductal carcinoma in situ	PMID:15564794
Endometrial hyperplasia	PMID:15536334
Prostate cancer	PMID:12242727
leiomyoma	PMID:12517589
Endometrial carcinoma	PMID:15536334
Endometriosis	PMID:17543958
Cervix carcinoma	PMID:14675348
ovarian carcinoma	PMID:15455382
ovarian carcinoma	PMID:10526262
cervical cancer	PMID:16638855
lung small cell carcinoma	PMID:21800286
lung small cell carcinoma	PMID:20802517
Pulmonary hypertension	PMID:16244766
Cryptorchidism	MIK: 21412036
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq