Human Gene PTK2 (uc003yvo.3)
  Description: Homo sapiens protein tyrosine kinase 2 (PTK2), transcript variant 2, mRNA.
RefSeq Summary (NM_153831): 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 protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017].
Transcript (Including UTRs)
   Position: hg19 chr8:141,668,481-141,774,522 Size: 106,042 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr8:141,669,565-141,774,450 Size: 104,886 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:141,668,481-141,774,522)mRNA (may differ from genome)Protein (680 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E9PEI4_HUMAN
DESCRIPTION: SubName: Full=Focal adhesion kinase 1;
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family.
SIMILARITY: Contains 1 protein kinase domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PTK2
CDC HuGE Published Literature: PTK2
Positive Disease Associations: Heart Rate , hepatocellular carcinoma , Multiple Sclerosis
Related Studies:
  1. Heart Rate
    , , . [PubMed 0]
  2. hepatocellular carcinoma
    Okamoto H 2003, PTK2 and EIF3S3 genes may be amplification targets at 8q23-q24 and are associated with large hepatocellular carcinomas., Hepatology (Baltimore, Md). 2003 Nov;38(5):1242-9. [PubMed 14578863]
  3. Multiple Sclerosis
    F Weber et al. The pharmacogenomics journal 2012, , The pharmacogenomics journal. [PubMed 21502966]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PTK2
Diseases sorted by gene-association score: glioblastoma multiforme (5), malignant glioma (5), lung cancer (4), colorectal cancer (4), melanoma (3), mitral valve disease (2), pancreatic cancer (2), cerebral hypoxia (2), hepatocellular carcinoma (2), prostate cancer (2), breast cancer (2), uveal melanoma (2), ovarian cancer, somatic (2), thrombasthenia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.56 RPKM in Artery - Tibial
Total median expression: 436.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.6072-0.147 Picture PostScript Text
3' UTR -262.011084-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005189 - Focal_adhesion_kin_target_dom
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom

Pfam Domains:
PF00069 - Protein kinase domain
PF03623 - Focal adhesion targeting region
PF07714 - Protein tyrosine kinase

SCOP Domains:
68993 - FAT domain of focal adhesion kinase
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on E9PEI4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005524 ATP binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0007172 signal complex assembly
GO:0018108 peptidyl-tyrosine phosphorylation

Cellular Component:
GO:0005925 focal adhesion


-  Descriptions from all associated GenBank mRNAs
  BC035404 - Homo sapiens PTK2 protein tyrosine kinase 2, mRNA (cDNA clone MGC:34721 IMAGE:4999680), complete cds.
BC028733 - Homo sapiens PTK2 protein tyrosine kinase 2, mRNA (cDNA clone MGC:33483 IMAGE:4812915), complete cds.
AL832961 - Homo sapiens mRNA; cDNA DKFZp666O0110 (from clone DKFZp666O0110).
AK094999 - Homo sapiens cDNA FLJ37680 fis, clone BRHIP2012923, highly similar to FOCAL ADHESION KINASE 1 (EC 2.7.1.112).
AK304356 - Homo sapiens cDNA FLJ61553 complete cds, highly similar to Focal adhesion kinase 1 (EC 2.7.10.2).
AB209083 - Homo sapiens mRNA for PTK2 protein tyrosine kinase 2 isoform b variant protein.
AB209071 - Homo sapiens mRNA for PTK2 protein tyrosine kinase 2 isoform b variant protein.
L13616 - Human focal adhesion kinase (FAK) mRNA, complete cds.
AK301557 - Homo sapiens cDNA FLJ57218 complete cds, highly similar to Focal adhesion kinase 1 (EC 2.7.10.2).
L05186 - Homo sapiens focal adhesion kinase mRNA, complete cds.
AK294873 - Homo sapiens cDNA FLJ57973 complete cds, highly similar to Focal adhesion kinase 1 (EC 2.7.10.2).
KJ904540 - Synthetic construct Homo sapiens clone ccsbBroadEn_13934 PTK2 gene, encodes complete protein.
KF437463 - Homo sapiens focal adhesion kinase isoform FAK-Del33 (FAK) mRNA, complete cds, alternatively spliced.
EU176794 - Synthetic construct Homo sapiens clone IMAGE:100011553; FLH195223.01L; RZPDo839A1284D PTK2 protein tyrosine kinase 2 (PTK2) gene, encodes complete protein.
BC015361 - Homo sapiens, clone IMAGE:3886095, mRNA.
AK124810 - Homo sapiens cDNA FLJ42820 fis, clone BRCAN2015719, highly similar to FOCAL ADHESION KINASE 1 (EC 2.7.1.112).
JD055978 - Sequence 37002 from Patent EP1572962.
JD503677 - Sequence 484701 from Patent EP1572962.
JD516741 - Sequence 497765 from Patent EP1572962.
JD280316 - Sequence 261340 from Patent EP1572962.
JD202724 - Sequence 183748 from Patent EP1572962.
JD530226 - Sequence 511250 from Patent EP1572962.
JD110546 - Sequence 91570 from Patent EP1572962.
JD523859 - Sequence 504883 from Patent EP1572962.
JD441363 - Sequence 422387 from Patent EP1572962.
JD138004 - Sequence 119028 from Patent EP1572962.
JD273709 - Sequence 254733 from Patent EP1572962.
AK055139 - Homo sapiens cDNA FLJ30577 fis, clone BRAWH2006760.
BC043202 - Homo sapiens PTK2 protein tyrosine kinase 2, mRNA (cDNA clone IMAGE:5294745).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04062 - Chemokine signaling pathway
hsa04360 - Axon guidance
hsa04370 - VEGF signaling pathway
hsa04510 - Focal adhesion
hsa04670 - Leukocyte transendothelial migration
hsa04810 - Regulation of actin cytoskeleton
hsa05100 - Bacterial invasion of epithelial cells
hsa05200 - Pathways in cancer
hsa05222 - Small cell lung cancer

-  Other Names for This Gene
  Alternate Gene Symbols: BC028733, E9PEI4, E9PEI4_HUMAN, NM_153831, NP_722560
UCSC ID: uc003yvo.3
RefSeq Accession: NM_153831
Protein: E9PEI4

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC028733.2
exon count: 18CDS single in 3' UTR: no RNA size: 3194
ORF size: 2043CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 3379.00frame shift in genome: no % Coverage: 99.50
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 133# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.