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FLASH GENE

Symbol

PTK2

contributors: shn/npt/pgu - updated : 14-02-2017

HGNC name	PTK2 protein tyrosine kinase 2
HGNC id	9611

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in hepatocellular carcinoma constitutional fusion       PTK2-THOC2 gene fusion in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas targeting interaction PTK2/IGF1R with small molecules is a novel strategy for treatment of pancreatic cancer or other cancers miscelleaneous urinary   FAK inhibitors, might be employed as a novel therapeutic approach for treating Alport renal disease in its early stages

ANIMAL & CELL MODELS

	FAK-deficient mice display a general defect of mesoderm development, and cells from these embryos have reduced mobility in vitro
	Null mutation of FAK results in embryonic lethality, and FAK-/- fibroblasts exhibit cell migration defects in culture
	keratinocyte cell death was observed after fak deletion in vitro and in vivo in mice
	mice in which FAK is selectively inactivated in cardiomyocytes develop eccentric cardiac hypertrophy ncreased heart/body weight ratios, elevated markers of cardiac hypertrophy, multifocal interstitial fibrosis, and increased collagen I and VI expression
	focal adhesion kinase (FAK) conditional knockout mice display Cardiac developmental defects and eccentric right ventricular hypertrophy