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FLASH GENE

Symbol

AKAP12

contributors: mct/npt/pgu - updated : 06-03-2013

HGNC name	a kinase (PRKA) anchor protein (gravin) 12
HGNC id	370

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         frequently inactivated in human gastric cancer and in several other cancers due to promoter hypermethylation tumoral     --low   in samples of acute leukaemia and associated with an inferior overall survival tumoral     --low   by promoter hypermethylation in gastric and colorectal cancers tumoral     --low   by promoter hypermethylation is a common, tissue-specific event in esophageal adenocarcinoma, occurs early during Barrett's-associated esophageal neoplastic progression, and is a potential biomarker for the early detection of esophageal adenocarcinoma tumoral imprinting       epigenetic silencing of AKAP12 may be involved in myeloid malignancies tumoral     --low   in hepatocellular carcinoma tissues through promoter hypermethylation

Susceptibility

Variant & Polymorphism

Candidate gene	gravin autoantigen recognized by serum from myasthenia patients
Marker	AKAP12 MS-HRM (methylation-specific high resolution melting) quantitative methods with excellent detection capabilities have many promising applications in the research and diagnosis of colorectal cancer
Therapy target

ANIMAL & CELL MODELS

AKAP12-null mice exhibit increased cell senescence and increased susceptibility to carcinogen-induced oncogenesis