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FLASH GENE

Symbol

KCNJ2

contributors: mct/npt/pgu - updated : 20-12-2018

HGNC name	potassium inwardly-rectifying channel, subfamily J, member 2
HGNC id	6263

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PPKCA , SQT3 , ATFB9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   translocation     non-syndromic Pierre-robin sequence may be caused by both SOX9 and KCNJ2 dysregulation in a patient with t(2;17) constitutional germinal mutation       cause a similar constellation of birth defects as in Fetal alcohol spectrum disorder (FASD), and alcohol targets likely KCNJ2 to cause the birth defects associated

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	DUSP1 and KCNJ2 may be associated with mechanical asphyxia-induced death and can thus serve as useful biomarkers of death by mechanical asphyxia
Therapy target
	System Type Disorder Pubmed cardiovascular atheroma   may be a potential therapeutic target in the treatment of cardiovascular diseases, such as atherosclerosis and restenosis following percutaneous coronary intervention

ANIMAL & CELL MODELS