Abcc9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcc9provided by MGI
Official Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 9provided by MGI
Primary source: MGI:MGI:1352630
See related: Ensembl:ENSMUSG00000030249 AllianceGenome:MGI:1352630
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sur2; SUR2A; SUR2B
Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The human protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Expression: Broad expression in heart adult (RPKM 24.1), bladder adult (RPKM 9.3) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 G2; 6 74.35 cM

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (142533588..142648472, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (142587862..142702766, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling.
Title: KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling.
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Title: Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Improved adaptation to physical stress in mice overexpressing SUR2A is associated with changes in the pattern of Q-T interval.
Title: Improved adaptation to physical stress in mice overexpressing SUR2A is associated with changes in the pattern of Q-T interval.
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
Title: Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
Cardiac SUR2A levels were significantly increased while Kir6.2 levels were not affected. Hypoxia did not induce phosphorylation of extracellular signal-regulated kinases (ERK1/2) or protein kinase B (Akt), but triggered phosphorylation of AMP activated protein kinase (AMPK). AICAR, an activator of AMPK, increased the level of SUR2A in H9c2 cells. We conclude that oxygen increases SUR2A level by activating AMPK.
Title: Exposure to 15% oxygen in vivo up-regulates cardioprotective SUR2A without affecting ERK1/2 and AKT: a crucial role for AMPK.
K(ATP) channels seem to play an essential role in murine myometrial motility via activation of SUR2B and Kir6.2
Title: Regulation of myometrial contraction by ATP-sensitive potassium (KATP) channel via activation of SUR2B and Kir 6.2 in mouse.
Data show that PI3K/Akt signalling pathway and lactate dehydrogenase (LDH) play a crucial role in increase of cardiac ATP-binding cassette transporter sub-family C member 9 (SUR2A) induced by in vivo exposure to 18% oxygen.
Title: Mild hypoxia in vivo regulates cardioprotective SUR2A: A role for Akt and LDH.
Sulfhydration of SUR2B subunit modifies tyrosine nitration of Kir6.1 subunit within the KATP channel complex.
Title: Interaction between hydrogen sulfide-induced sulfhydration and tyrosine nitration in the KATP channel complex.
ATP-sensitive potassium currents from channels formed by Kir6 and a modified cardiac mitochondrial SUR2 variant
Title: ATP-sensitive potassium currents from channels formed by Kir6 and a modified cardiac mitochondrial SUR2 variant.
In the absence of Abcc9, the newborn heart fails to transition normally from fetal to mature myocardial metabolism.
Title: Abcc9 is required for the transition to oxidative metabolism in the newborn heart.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI449286 (e-PCR)
- UniSTS:179485

Abcc9 (e-PCR), detects polymorphism
- UniSTS:546617

AI414027 (e-PCR)
- UniSTS:159586

Homology

Homologs of the Abcc9 gene: The Abcc9 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 466 organisms have orthologs with human gene Abcc9
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables heterocyclic compound binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
contributes_to monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
contributes_to potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to potassium channel activity	ISO Inferred from Sequence Orthology more info
enables potassium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables sulfonylurea receptor activity	ISO Inferred from Sequence Orthology more info
enables syntaxin binding	ISO Inferred from Sequence Orthology more info
contributes_to transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cardiac conduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect cardiac muscle cell contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within defense response to virus	ISO Inferred from Sequence Orthology more info	PubMed
involved_in inorganic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ATP	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
part_of inward rectifying potassium channel	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 9

Names: ATP-binding cassette transporter sub-family C member 9; sulfonylurea receptor 2; sulfonylurea-binding protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001044720.2 → NP_001038185.1 ATP-binding cassette sub-family C member 9 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (d, also known as SUR2 delta17/39) has the same N- and C-termini but is shorter compared to isoform b. This RefSeq is based on data in PMID: 10224138.

Source sequence(s)

AC121611

UniProtKB/Swiss-Prot

P70170

UniProtKB/TrEMBL

E9PUE8

Related

ENSMUSP00000107401.2, ENSMUST00000111771.8

Conserved Domains (4) summary

TIGR00957
Location:23 → 1525

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

cd03288
Location:1294 → 1533

ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR

cd03290
Location:669 → 873

ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C

cl00549
Location:982 → 1216

ABC_membrane; ABC transporter transmembrane region
NM_001310143.2 → NP_001297072.1 ATP-binding cassette sub-family C member 9 isoform e

See identical proteins and their annotated locations for NP_001297072.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two exons in the 3' coding region, compared to variant 2. It encodes isoform e (also known as SUR2 delta17/40), which lacks an internal in-frame segment and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AC121611

Conserved Domains (1) summary

TIGR00957
Location:23 → 1530

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_001410414.1 → NP_001397343.1 ATP-binding cassette sub-family C member 9 isoform f

Status: REVIEWED

Source sequence(s)

AC121611
NM_001410415.1 → NP_001397344.1 ATP-binding cassette sub-family C member 9 isoform g

Status: REVIEWED

Source sequence(s)

AC121611
NM_001410416.1 → NP_001397345.1 ATP-binding cassette sub-family C member 9 isoform h

Status: REVIEWED

Source sequence(s)

AC121611
NM_011511.3 → NP_035641.1 ATP-binding cassette sub-family C member 9 isoform a

See identical proteins and their annotated locations for NP_035641.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 3' UTR and coding region compared to variant 2. The resulting isoform (a, also known as SUR2B or SUR2-40) has a distinct C-terminus compared to isoform b.

Source sequence(s)

AC121611

Consensus CDS

CCDS39696.1

UniProtKB/Swiss-Prot

P70170

Related

ENSMUSP00000098390.3, ENSMUST00000100827.5

Conserved Domains (1) summary

TIGR00957
Location:23 → 1543

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_021041.3 → NP_066378.1 ATP-binding cassette sub-family C member 9 isoform b

See identical proteins and their annotated locations for NP_066378.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes isoform b (also known as SUR2A or SUR2-39).

Source sequence(s)

AC121611

Consensus CDS

CCDS39699.1

UniProtKB/Swiss-Prot

P70170, P70171

Related

ENSMUSP00000084805.5, ENSMUST00000087527.11

Conserved Domains (1) summary

TIGR00957
Location:23 → 1538

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_021042.3 → NP_066379.2 ATP-binding cassette sub-family C member 9 isoform c

See identical proteins and their annotated locations for NP_066379.2

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (c, also known as SUR2 delta14/39) has the same N- and C-termini but is shorter compared to isoform b.

Source sequence(s)

AC121611

Consensus CDS

CCDS39697.1

UniProtKB/Swiss-Prot

P70170

Related

ENSMUSP00000072914.6, ENSMUST00000073173.12

Conserved Domains (4) summary

TIGR00957
Location:23 → 1503

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

cd03288
Location:1272 → 1511

ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR

cd03290
Location:635 → 851

ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C

cl00549
Location:960 → 1194

ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

142533588..142648472 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036166003.1 → XP_036021896.1 ATP-binding cassette sub-family C member 9 isoform X4

Conserved Domains (1) summary

TIGR00957
Location:213 → 1529

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006506949.5 → XP_006507012.1 ATP-binding cassette sub-family C member 9 isoform X1

See identical proteins and their annotated locations for XP_006507012.1

UniProtKB/Swiss-Prot

P70170

Conserved Domains (1) summary

TIGR00957
Location:23 → 1543

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006506950.5 → XP_006507013.1 ATP-binding cassette sub-family C member 9 isoform X1

See identical proteins and their annotated locations for XP_006507013.1

UniProtKB/Swiss-Prot

P70170

Conserved Domains (1) summary

TIGR00957
Location:23 → 1543

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_036166004.1 → XP_036021897.1 ATP-binding cassette sub-family C member 9 isoform X5

Conserved Domains (1) summary

TIGR00957
Location:213 → 1516

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006506952.4 → XP_006507015.1 ATP-binding cassette sub-family C member 9 isoform X3

Conserved Domains (1) summary

TIGR00957
Location:213 → 1534

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006506951.5 → XP_006507014.1 ATP-binding cassette sub-family C member 9 isoform X1

See identical proteins and their annotated locations for XP_006507014.1

UniProtKB/Swiss-Prot

P70170

Conserved Domains (1) summary

TIGR00957
Location:23 → 1543

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_036166002.1 → XP_036021895.1 ATP-binding cassette sub-family C member 9 isoform X2

UniProtKB/Swiss-Prot

P70171

Conserved Domains (1) summary

TIGR00957
Location:23 → 1538

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_021043.1: Suppressed sequence

Description

NM_021043.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.