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FLASH GENE

Symbol

PRKAG2

contributors: mct/npt - updated : 30-11-2009

HGNC name	protein kinase, AMP-activated, gamma 2 non-catalytic subunit
HGNC id	9386

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GSDH glycogen storage disease of the heart WPW Wolff-Parkinson-White syndrome
Location	7q36.1      Physical location : 151.253.202 - 151.574.316
Synonym name	AMP-activated protein kinase gamma2 subunit
	AMPK gamma2
Synonym symbol(s)	AMPKG2, CMH6, AAKG, AAKH, AAKG2, H91620p

DNA

TYPE	functioning gene
STRUCTURE	321.12 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

(PRKAG2b)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D7S2426 - D7S605 - D7S636 - D7S642 - D7S2641 - D7S2439 - PRKAG2 - RHEB - D7S2462 - D7S483 - D7S798 - qter
Authors	Lang (00) Gollog (01)

RNA

TRANSCRIPTS	type	messenger

text	may be other transcripts (Lang) 63rd

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001040633 16 splicing 3154 NP_001035723 58 525 - Morita (2008) containing an alternate 5' exon compared to variant 1 start of translation from a downstream AUG codon compared to variant 1 NM_024429 16 splicing 2248 NP_077747 37.4 328 heart, testis, placenta Cheung, Lang, Morita (2008 also called PRKAG2B containing a distinct 5' UTR compared to variant 1 lacking a large in-frame portion of the 5' coding region compared to variant 1 NM_016203 16 splicing 3423 NP_057287 62.9 569 highly in heart, lower in skeletal muscle, kidney, spleen, testis Lang, Cheung, Morita (2008) also called PRKAG2A

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive intestine small intestine     moderately   intestine large intestine colon   moderately Endocrine adrenal gland       moderately   parathyroid       moderately Lymphoid/Immune thymus       moderately Reproductive female system placenta     predominantly   female system ovary     highly   male system testis       Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four cystathionine-beta-synthase (CBS) forming a stable globular domain

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	ortholog to rattus Prkag2 (98.5pc)
	ortholog to murine Prkag2 (93.8pc)

intraspecies

homolog to PRKAG1

Homologene

FAMILY

5'-AMP-activated protein kinase gamma subunit family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	being responsible for the regulation of fatty acid synthesis by phosphorylation of acetyl-CoA carboxylase
	regulating cholesterol synthesis via phosphorylation and inactivation of hydroxymethylglutaryl-CoA reductase and hormone-sensitive lipase
	involved in the pathogenesis of Alzheimer disease
	stimulates energy production via glucose and lipid metabolism, whereas it inhibits energy consuming functions, such as protein and cholesterol synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

fatty acid biosynthesis ; cholesterol biosynthesis

a component

heterotrimer of an alpha catalytic subunit, a beta and a gamma non-catalytic regulatory subunits

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

cAMP

ASSOCIATED DISORDERS

corresponding disease(s)

WPW , GSDH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS