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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

Corresponding disease	CMD1O cardiomyopathy, dilated 1O HCOD hypertrichotic osteochondrodysplasia
Location	12p12.1      Physical location : 21.950.325 - 22.089.628
Synonym name	sulfonylurea receptor 2
Synonym symbol(s)	SUR2, ABC37, ATFB12, CMD1O

DNA

TYPE	anonymous DNA segment
STRUCTURE	139.31 kb     38 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020297 38 splicing 8325 NP_064693 - 1549 brain, skeletal, cardiac and smooth muscle 2010 20553499 SUR2B exon 38b lower ATPase activity of SUR2B may result in enhanced duration of the MgADP-bound state, leading to channel activation NM_005691 38 splicing 4670 NP_005682 - 1549 cardiac and skeletal muscle 2010 20553499 SUR2A exon 38A ATPase activity harbored within NBD2 and, to a lesser degree, NBD1, with catalytically driven conformations exerting determinate linkage on the Kir6.2 channel pore has a lower ATPase activity and a 10-fold lower K(m) for MgATP than SUR2A SUR2A14 - splicing 4540 - 1513 - 2000 11054556 lack exon 14 SUR217 - splicing - - - brain, kidney, heart, skeletal muscle, small intestine 2000 11054556 lack exon 17 SUR2AD14 - splicing 4542 - 1513 - 2000 11054556

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