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FLASH GENE

Symbol

ABCC9

contributors: mct - updated : 12-07-2016

HGNC name	ATP-binding cassette, sub-family C (CFTR/MRP), member 9
HGNC id	60

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

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       highly Hearing/Equilibrium ear       highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an endoplasmic retention signal
	an anterograde signal at C terminus
	three asymetric membrane spanning domains
	two ABC transmembrane type-1 domains
	two ABC transporter domains

HOMOLOGY

interspecies

homolog to murine Abcc9

Homologene

FAMILY	ATP binding cassette transporter superfamily
	C-branch of the transport adenosine triphosphatase superfamily

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	ABC transporter, traffic ATPase
	drug-binding channel modulating subunit of the extrapancreatic KATP channel

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	KATP channel

PATHWAY

metabolism

signaling

a component	constituent with KIR6.1 (KCNJ8) of an ATP dependent potassium channel in extrapancreatic tissues SUR2A/KCNJ11 and SUR2B/KCNJ8
	constituting cardiac and vascular smooth muscle type KATP channel

INTERACTION

DNA

RNA

small molecule

protein

KIR6.1 (KCNJ8) binding

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1O , HCOD

Susceptibility

to precocious myocardial infarction

Variant & Polymorphism	a Val734Ile variant associated with myocardial infarction

Candidate gene
Marker	potential diagnostic and prognostic markers in triple-negative breast cancer
Therapy target

ANIMAL & CELL MODELS

ABCC9 -/- mice display enhanced insulin-stimulated glucose uptake in skeletal muscle