ABCC9 ATP binding cassette subfamily C member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCC9provided by HGNC
Official Full Name: ATP binding cassette subfamily C member 9provided by HGNC
Primary source: HGNC:HGNC:60
See related: Ensembl:ENSG00000069431 MIM:601439; AllianceGenome:HGNC:60
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SUR2; ABC37; CANTU; CMD1O; IDMYS; ATFB12
Summary: The 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. This 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 extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Expression: Broad expression in fat (RPKM 12.5), liver (RPKM 7.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (21797389..21941426, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (21676073..21820886, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (21950323..22094360, complement)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Title: Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
Title: Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
Novel cholesterol-dependent regulation of cardiac KATP subunit expression revealed using histone deacetylase inhibitors.
Title: Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors.
The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.
Title: The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.
Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
Title: Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Title: Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Cantu syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
Title: Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
Novel variants of ABCC9 in Japanese children with Cantu syndrome.
Title: Novel variants of ABCC9 in Japanese children with Cantú syndrome.
Three-dimensional facial morphology in Cantu syndrome.
Title: Three-dimensional facial morphology in Cantú syndrome.
ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.
Title: ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atrial fibrillation, familial, 12 MedGen: C3279695 OMIM: 614050 GeneReviews: Not available	Compare labs
Dilated cardiomyopathy 1O MedGen: C1837839 OMIM: 608569 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Hypertrichotic osteochondrodysplasia Cantu type MedGen: C0795905 OMIM: 239850 GeneReviews: Cantu syndrome	Compare labs
Intellectual disability and myopathy syndrome MedGen: C5676904 OMIM: 619719 GeneReviews: Not available	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

EBI GWAS Catalog

Description
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S3014 (e-PCR)
- UniSTS:152118

D11S3017 (e-PCR)
- UniSTS:152121

D11S3026 (e-PCR)
- UniSTS:152129

RH121390 (e-PCR)
- UniSTS:134236

GDB:229337 (e-PCR)
- UniSTS:156267

D11S2766 (e-PCR)
- UniSTS:151969

SHGC-18112 (e-PCR)
- UniSTS:44462

NoName (e-PCR)
- UniSTS:62643

AL033784 (e-PCR)
- UniSTS:93636

Gene Ontology Provided by GOA

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 ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
contributes_to ATP-activated inward rectifier potassium channel activity	NAS Non-traceable Author Statement more info	PubMed
enables ATPase-coupled inorganic anion transmembrane transporter activity	TAS Traceable Author Statement more info
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
contributes_to potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables potassium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables sulfonylurea receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in action potential	IEA Inferred from Electronic Annotation more info
involved_in cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in cellular respiration	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ATP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to chemical stress	IEA Inferred from Electronic Annotation more info
involved_in cellular response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid oxidation	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in oxygen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to ATP	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ATP	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen sulfide	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to peptide	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	TAS Traceable Author Statement more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of inward rectifying potassium channel	IDA Inferred from Direct Assay more info	PubMed
part_of inward rectifying potassium channel	ISO Inferred from Sequence Orthology more info
part_of inward rectifying potassium channel	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of potassium ion-transporting ATPase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in sarcomere	IEA Inferred from Electronic Annotation more info

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; ATP-binding cassette, sub-family C (CFTR/MRP), member 9; sulfonylurea receptor 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.

Genomic

NG_012819.1 RefSeqGene

Range

5001..144306

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_377

mRNA and Protein(s)

NM_001377273.1 → NP_001364202.1 ATP-binding cassette sub-family C member 9 isoform SUR2B

Status: REVIEWED

Source sequence(s)

AC008250, AC084806, KF459680, KF495813, KF570253

Consensus CDS

CCDS8693.1

UniProtKB/TrEMBL

A0A804HKB7

Conserved Domains (1) summary

TIGR00957
Location:222 → 1546

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_001377274.1 → NP_001364203.1 ATP-binding cassette sub-family C member 9 isoform 5

Status: REVIEWED

Source sequence(s)

AC008250, AC084806, KF459680, KF495813, KF570253

UniProtKB/TrEMBL

H0YFV4

Related

ENSP00000440521.1, ENST00000544039.5

Conserved Domains (1) summary

TIGR00957
Location:1 → 1257

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
NM_005691.4 → NP_005682.2 ATP-binding cassette sub-family C member 9 isoform SUR2A

See identical proteins and their annotated locations for NP_005682.2

Status: REVIEWED

Description

Transcript Variant: This variant (SUR2A) uses an alternate 3' coding exon (exon 38A), compared to variant SUR2B, which uses exon 38B. The encoded isoform (SUR2A) has an alternate 38-amino acid C-terminus, but is the same length as isoform SUR2B. There are no full-length transcripts representing this variant in human; it is supported by partial transcript alignments, by full-length transcript alignments from the homologous mouse and rat genes, and by RT-PCR analysis in PMID:11054556.

Source sequence(s)

AC008250, AC084806, KF459680, KF495813, KF570253

Consensus CDS

CCDS8694.1

UniProtKB/Swiss-Prot

O60706, O60707

UniProtKB/TrEMBL

A0A804HKB7

Related

ENSP00000261201.4, ENST00000261201.10

Conserved Domains (1) summary

cl26602
Location:222 → 1541

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_020297.4 → NP_064693.2 ATP-binding cassette sub-family C member 9 isoform SUR2B

See identical proteins and their annotated locations for NP_064693.2

Status: REVIEWED

Description

Transcript Variant: This variant (SUR2B) uses an alternate 3' coding exon (exon 38B), compared to variant SUR2A, which uses exon 38A. The encoded isoform (SUR2B) has an alternate 38-amino acid C-terminus, but is the same length as isoform SUR2A. There are no full-length transcripts representing this variant in human; it is supported by partial transcript alignments, by full-length transcript alignments from the homologous mouse and rat genes, and by RT-PCR analysis in PMID:11054556.

Source sequence(s)

AC008250, AC084806, KF459680, KF495813, KF570253

Consensus CDS

CCDS8693.1

UniProtKB/TrEMBL

A0A804HKB7

Related

ENSP00000261200.4, ENST00000261200.9

Conserved Domains (1) summary

TIGR00957
Location:222 → 1546

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

21797389..21941426 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005253288.5 → XP_005253345.1 ATP-binding cassette sub-family C member 9 isoform X1

See identical proteins and their annotated locations for XP_005253345.1

UniProtKB/TrEMBL

A0A804HKB7

Conserved Domains (1) summary

TIGR00957
Location:222 → 1546

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_005253290.5 → XP_005253347.1 ATP-binding cassette sub-family C member 9 isoform X3

UniProtKB/TrEMBL

A0A804HKB7

Conserved Domains (4) summary

cd03288
Location:1263 → 1502

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

TIGR01271
Location:221 → 1489

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

cl00549
Location:951 → 1185

ABC_membrane; ABC transporter transmembrane region

cl21455
Location:672 → 842

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_005253289.5 → XP_005253346.1 ATP-binding cassette sub-family C member 9 isoform X2

UniProtKB/TrEMBL

A0A804HKB7

Conserved Domains (4) summary

cd03288
Location:1297 → 1536

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

cd03290
Location:672 → 876

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

TIGR01271
Location:221 → 1523

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

cl00549
Location:985 → 1219

ABC_membrane; ABC transporter transmembrane region
XM_011520545.4 → XP_011518847.1 ATP-binding cassette sub-family C member 9 isoform X1

See identical proteins and their annotated locations for XP_011518847.1

UniProtKB/TrEMBL

A0A804HKB7

Conserved Domains (1) summary

TIGR00957
Location:222 → 1546

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

21676073..21820886 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370717.1 → XP_054226692.1 ATP-binding cassette sub-family C member 9 isoform X1
XM_054370718.1 → XP_054226693.1 ATP-binding cassette sub-family C member 9 isoform X1
XM_054370720.1 → XP_054226695.1 ATP-binding cassette sub-family C member 9 isoform X3
XM_054370719.1 → XP_054226694.1 ATP-binding cassette sub-family C member 9 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_020298.2: Suppressed sequence

Description

NM_020298.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.