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mutLBSgeneDB |
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| Gene summary for PTK2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PTK2 |
| Gene name | protein tyrosine kinase 2 | |
| Synonyms | FADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK | |
| Cytomap | UCSC genome browser: 8q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001199649.1, NM_005607.4,NM_153831.3, | |
| Description | FADK 1FAK-related non-kinase polypeptidePTK2 protein tyrosine kinase 2focal adhesion kinase 1focal adhesion kinase isoform FAK-Del33focal adhesion kinase-related nonkinaseprotein phosphatase 1 regulatory subunit 71protein phosphatase 1, regulatory | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600758 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169398 | ||
| HPRD : 02859 | ||
| Vega : OTTHUMG00000067438 | ||
| Protein | UniProt: Q05397 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PTK2 | |
| BioGPS: 5747 | ||
| Pathway | NCI Pathway Interaction Database: PTK2 | |
| KEGG: PTK2 | ||
| REACTOME: PTK2 | ||
| Pathway Commons: PTK2 | ||
| Context | iHOP: PTK2 | |
| ligand binding site mutation search in PubMed: PTK2 | ||
| UCL Cancer Institute: PTK2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007179 | transforming growth factor beta receptor signaling pathway | 24036928 | GO:0007229 | integrin-mediated signaling pathway | 24036928 | GO:0018108 | peptidyl-tyrosine phosphorylation | 10655584 | GO:0022408 | negative regulation of cell-cell adhesion | 21703394 | GO:0030335 | positive regulation of cell migration | 11331870 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 | GO:0046777 | protein autophosphorylation | 10655584 | GO:0048013 | ephrin receptor signaling pathway | 10655584 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
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| Ligand binding site mutations for PTK2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L534 | A535V | BLCA | 1 | G563 | G563V | BRCA | 1 | V484 | L486V | BRCA | 1 | H544 | R545S | LUAD | 1 | R919 | D918G | LUSC | 1 | L959 | L959F | SKCM | 1 | E506 | R508G | STAD | 1 | A452 | A450V | STAD | 1 | R962 | R962S | UCEC | 1 | M475 | R476C | UCEC | 1 | T474 | T474I | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for PTK2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | V484 | L486V | -1.1367146 | M475 | R476C | -1.1075642 | E506 | R508G | -1.0491406 | G563 | G563V | -0.96310545 | H544 | R545S | -0.84273598 | R919 | D918G | -0.83683325 | L959 | L959F | -0.52676496 | A452 | A450V | -0.40444259 | R962 | R962S | -0.38083799 | L534 | A535V | -0.24861535 | T474 | T474I | -0.11285964 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for PTK2 from PDB |
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| Differential gene expression and gene-gene network for PTK2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for PTK2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 8 | Biomarker, GeneticVariation |
| umls:C0007137 | Carcinoma, Squamous Cell | 5 | Biomarker, GeneticVariation |
| umls:C0017636 | Glioblastoma | 5 | AlteredExpression, Biomarker, PostTranslationalModification |
| umls:C0003873 | Arthritis, Rheumatoid | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PTK2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB07248 | 7-PYRIDIN-2-YL-N-(3,4,5-TRIMETHOXYPHENYL)-7H-PYRROLO[2,3-D]PYRIMIDIN-2-AMINE | Small molecule |  |
| Experimental | DB07460 | 2-({5-CHLORO-2-[(2-METHOXY-4-MORPHOLIN-4-YLPHENYL)AMINO]PYRIMIDIN-4-YL}AMINO)-N-METHYLBENZAMIDE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PTK2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 7PY | 7-PYRIDIN-2-YL-N-(3,4,5-TRIMETHOXYPHENYL)-7H-PYRROLO[2,3-D]PYRIMIDIN-2-AMINE | 2etm | A | A452 | 7PY | 7-PYRIDIN-2-YL-N-(3,4,5-TRIMETHOXYPHENYL)-7H-PYRROLO[2,3-D]PYRIMIDIN-2-AMINE | 2etm | B | A452 | ATP | ATP | 2ijm | A | A452 | PXK | 6-(4,4-DIMETHYLPENT-2-YN-1-YL)-1LAMBDA~4~-PYRROLO[2,3-D][1,3]THIAZOLE | 3pxk | A | A452 | K8A | 3-BROMO-5-(2H-TETRAZOL-5-YL)PYRIDINE | 4k8a | A | A452 | K8A | 3-BROMO-5-(2H-TETRAZOL-5-YL)PYRIDINE | 4k8a | B | A452 | 4KA | 3-METHYL-1,5-DIHYDROPYRAZOLO[4,3-C]PYRAZOLE | 4kab | B | A452 | ADP | ADP | 2ijm | B | A452 E506 | 10N | N-(3-{[(5-CYANO-2-PHENYL-1H-PYRROLO[2,3-B]PYRIDIN-4- YL)AMINO]METHYL}PYRIDIN-2-YL)-N- METHYLMETHANESULFONAMIDE | 4gu6 | B | A452 E506 G563 | YAM | N-METHYL-N-{3-[({2-[(2-OXO-2,3-DIHYDRO-1H-INDOL-5-YL)AMINO]-5-(TRIFLUOROMETHYL)PYRIMIDIN-4-YL}AMINO)METHYL]PYRIDIN-2-YL}METHANESULFONAMIDE | 3bz3 | A | A452 G563 | PXK | 6-(4,4-DIMETHYLPENT-2-YN-1-YL)-1LAMBDA~4~-PYRROLO[2,3-D][1,3]THIAZOLE | 3pxk | B | A452 G563 | K9Y | 1-[4-(6-AMINO-9H-PURIN-9-YL)PHENYL]-3-[3-TERT-BUTYL-1- (4-METHYLPHENYL)-1H-PYRAZOL-5-YL]UREA | 4k9y | A | A452 M475 V484 H544 G563 | KAO | 1-[3-TERT-BUTYL-1-(4-METHYLPHENYL)-1H-PYRAZOL-5-YL]-3- [4-(PYRIDIN-3-YL)PHENYL]UREA | 4kao | B | A452 M475 V484 H544 G563 | KAO | 1-[3-TERT-BUTYL-1-(4-METHYLPHENYL)-1H-PYRAZOL-5-YL]-3- [4-(PYRIDIN-3-YL)PHENYL]UREA | 4kao | A | A452 T474 M475 V484 H544 G563 | 1BQ | [4-(2-HYDROXYETHYL)PIPERIDIN-1-YL][4-(5-METHYL-4,4- DIOXIDO-1,5-DIHYDROPYRAZOLO[4,3-C][2,1]BENZOTHIAZIN-8- YL)PHENYL]METHANONE | 4i4e | A | A452 V484 | 4GU | N-(2-FLUOROPHENYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-AMINE | 4gu9 | A | A452 V484 | 4KA | 3-METHYL-1,5-DIHYDROPYRAZOLO[4,3-C]PYRAZOLE | 4kab | A | A452 V484 | ADP | ADP | 1mp8 | A | A452 V484 E506 | 4GU | N-(2-FLUOROPHENYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-AMINE | 4gu9 | B | A452 V484 E506 | 30G | 3,5-DIHYDRO[1,2,4]TRIAZINO[3,4-C][1,4]BENZOXAZIN-2(1H)- ONE | 4q9s | A | A452 V484 E506 | 10N | N-(3-{[(5-CYANO-2-PHENYL-1H-PYRROLO[2,3-B]PYRIDIN-4- YL)AMINO]METHYL}PYRIDIN-2-YL)-N- METHYLMETHANESULFONAMIDE | 4gu6 | A | G563 | 0PF | 1-ETHYL-8-(4-ETHYLPHENYL)-5-METHYL-1,5- DIHYDROPYRAZOLO[4,3-C][2,1]BENZOTHIAZINE 4,4-DIOXIDE | 4ebw | A | L534 H544 G563 | III | Peptide ligand (THR,ARG,GLU,LEU,ASP,GLU,LEU,MET,ALA,SER,LEU) | 1ow6 | C | L959 R962 | III | Peptide ligand (THR,ARG,GLU,LEU,ASP,GLU,LEU,MET,ALA,SER,LEU,SER) | 1ow7 | B | L959 R962 | III | Peptide ligand (THR,ARG,GLU,LEU,ASP,GLU,LEU,MET,ALA,SER,LEU,SER) | 1ow7 | C | L959 R962 | III | Peptide ligand (ARG,MET,SER,GLN,ILE,LYS,ARG,LEU,LEU,SER,GLU) | 3b71 | B | L959 R962 | III | Peptide ligand (SER,GLN,ILE,LYS,ARG,LEU,LEU,SER,GLU) | 3b71 | C | L959 R962 | 0O7 | 8-(4-ETHYLPHENYL)-5-METHYL-2,5-DIHYDROPYRAZOLO[4,3- C][2,1]BENZOTHIAZINE 4,4-DIOXIDE | 4ebv | A | M475 L534 H544 G563 | 1BR | N-(4-TERT-BUTYLBENZYL)-1,5-DIMETHYL-1,5- DIHYDROPYRAZOLO[4,3-C][2,1]BENZOTHIAZIN-8-AMINE 4,4- DIOXIDE | 4i4f | A | M475 V484 L534 H544 G563 | III | Peptide ligand (THR,ARG,GLU,LEU,ASP,GLU,LEU,MET,ALA,SER,LEU,SER) | 1ow7 | A | R919 | III | Peptide ligand (LEU,SER,GLU,LEU,ASP,ARG,LEU,LEU,LEU,GLU,LEU,ASN) | 1ow8 | C | R962 |
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| Conservation information for LBS of PTK2 |
| Multiple alignments for Q05397 in multiple species |
| LBS | AA sequence | # species | Species |
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