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FLASH GENE

Symbol

PHKG2

contributors: mlc/np - updated : 17-05-2013

HGNC name	phosphorylase kinase, gamma 2 (testis)
HGNC id	8931

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GSD9C glycogen storage disease, type IX C
Location	16p11.2      Physical location : 30.759.619 - 30.772.495
Synonym name	phosphorylase kinase, gamma 2 (testis/liver)
	phosphorylase b kinase gamma catalytic chain, testis/liver isoform
Synonym symbol(s)	PSK-C3, PHK-gamma-T
EC.number	2.7.11.26, 2.7.11.19

DNA

TYPE	functioning gene
STRUCTURE	12.88 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000294 10 - 5503 NP_000285 46.4 406 - 2007 17689125 NM_001172432 11 - 2307 NP_001165903 - 374 - 2007 17689125

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 Digestive intestine small intestine     moderately   liver         Lymphoid/Immune thymus       predominantly Nervous brain       highly Reproductive female system uterus cervix   highly   female system ovary     moderately   male system testis     moderately   male system prostate     moderately Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , oligo

HOMOLOGY

interspecies	ortholog to rattus Phkg2
	ortholog to murine Phkg2

Homologene

FAMILY

Ser/Thr protein kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzing the phosphorylation of serine in certain substrates, including troponin I
	may regulate glycogeneolysis in the testis
	acting as a protein serine/threonine kinase

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

glycogen biosynthesis

a component

polymer of 16 chains, four each of alpha, beta, gamma, and delta (alpha and beta are regulatory chains, gamma is the catalytic chain, and delta is calmodulin)

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

calmodulin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GSD9C

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS