Gene Gene information from NCBI Gene database.
Entrez ID 5747
Gene name Protein tyrosine kinase 2
Gene symbol PTK2
Synonyms (NCBI Gene)
FADKFADK 1FAKFAK1FRNKPPP1R71p125FAKpp125FAK
Chromosome 8
Chromosome location 8q24.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
562
miRTarBase ID miRNA Experiments Reference
MIRT004001 hsa-miR-193a-3p Luciferase reporter assayqRT-PCRWestern blot 18381414
MIRT006388 hsa-miR-138-5p Luciferase reporter assayWestern blot 21444814
MIRT006388 hsa-miR-138-5p Luciferase reporter assayWestern blot 21444814
MIRT006388 hsa-miR-138-5p Luciferase reporter assayWestern blot 21444814
MIRT006900 hsa-miR-7-5p T47D 22876288
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
104
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis TAS 20552554
GO:0001725 Component Stress fiber IDA 24036928
GO:0001890 Process Placenta development TAS 20552554
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600758 9611 ENSG00000169398
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05397
Protein 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)
Protein function Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progress
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 , 6PW8 , 6YOJ , 6YQ1 , 6YR9 , 6YT6 , 6YVS , 6YVY , 6YXV , 7PI4 , 7W7Z , 7W8B , 7W8I , 7W9U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18038 FERM_N_2 35 130 FERM N-terminal domain Domain
PF00373 FERM_M 133 258 FERM central domain Domain
PF07714 PK_Tyr_Ser-Thr 422 676 Protein tyrosine and serine/threonine kinase Domain
PF03623 Focal_AT 914 1046 Focal adhesion targeting region Domain
Tissue specificity TISSUE SPECIFICITY: Detected in B and T-lymphocytes. Isoform 1 and isoform 6 are detected in lung fibroblasts (at protein level). Ubiquitous. Expressed in epithelial cells (at protein level) (PubMed:31630787). {ECO:0000269|PubMed:20109444, ECO:0000269|Pub
Sequence
MAAAYLDPNLNHTPNSSTKTHLGTGMERSPGAMERVLKVFHYFESNSEPTTWASIIRHGD
ATDVRGIIQKIVDSHKVKHVACYGFRLSHLRSEEVHWLHVDMGVSSVREKYELAHPPEEW
KYELRIRYLP
KGFLNQFTEDKPTLNFFYQQVKSDYMLEIADQVDQEIALKLGCLEIRRSY
WEMRGNALEKKSNYEVLEKDVGLKRFFPKSLLDSVKAKTLRKLIQQTFRQFANLNREESI
LKFFEILSPVYRFDKECF
KCALGSSWIISVELAIGPEEGISYLTDKGCNPTHLADFTQVQ
TIQYSNSEDKDRKGMLQLKIAGAPEPLTVTAPSLTIAENMADLIDGYCRLVNGTSQSFII
RPQKEGERALPSIPKLANSEKQGMRTHAVSVSETDDYAEIIDEEDTYTMPSTRDYEIQRE
RIELGRCIGEGQFGDVHQGIYMSPENPALAVAIKTCKNCTSDSVREKFLQEALTMRQFDH
PHIVKLIGVITENPVWIIMELCTLGELRSFLQVRKYSLDLASLILYAYQLSTALAYLESK
RFVHRDIAARNVLVSSNDCVKLGDFGLSRYMEDSTYYKASKGKLPIKWMAPESINFRRFT
SASDVWMFGVCMWEILMHGVKPFQGVKNNDVIGRIENGERLPMPPNCPPTLYSLMTKCWA
YDPSRRPRFTELKAQL
STILEEEKAQQEERMRMESRRQATVSWDSGGSDEAPPKPSRPGY
PSPRSSEGFYPSPQHMVQTNHYQVSGYPGSHGITAMAGSIYPGQASLLDQTDSWNHRPQE
IAMWQPNVEDSTVLDLRGIGQVLPTHLMEERLIRQQQEMEEDQRWLEKEERFLKPDVRLS
RGSIDREDGSLQGPIGNQHIYQPVGKPDPAAPPKKPPRPGAPGHLGSLASLSSPADSYNE
GVKLQPQEISPPPTANLDRSNDKVYENVTGLVKAVIEMSSKIQPAPPEEYVPMVKEVGLA
LRTLLATVDETIPLLPASTHREIEMAQKLLNSDLGELINKMKLAQQYVMTSLQQEYKKQM
LTAAHALAVDAKNLLDVIDQARLKML
GQTRPH
Sequence length 1052
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
ErbB signaling pathway
Chemokine signaling pathway
Efferocytosis
PI3K-Akt signaling pathway
Axon guidance
VEGF signaling pathway
Focal adhesion
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Growth hormone synthesis, secretion and action
Bacterial invasion of epithelial cells
Shigellosis
Yersinia infection
Amoebiasis
Human cytomegalovirus infection
Human papillomavirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Transcriptional misregulation in cancer
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Small cell lung cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  Apoptotic cleavage of cellular proteins
Regulation of actin dynamics for phagocytic cup formation
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
NCAM signaling for neurite out-growth
EPHB-mediated forward signaling
DCC mediated attractive signaling
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
RAF/MAP kinase cascade
MET activates PTK2 signaling
Extra-nuclear estrogen signaling
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 11585739, 25280968
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18263593
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29135089
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23995859, 31036704
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 15118593
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10523844
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36039594 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26191169
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 26119934 Associate
★☆☆☆☆
Found in Text Mining only
Arterial Tortuosity Syndrome Arterial tortuosity syndrome Pubtator 26376865 Associate
★☆☆☆☆
Found in Text Mining only