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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 resistan... See more...
Aliases for ABCC9 Gene
Aliases for ABCC9 Gene
External Ids for ABCC9 Gene
- HGNC: 60
- Entrez Gene: 10060
- Ensembl: ENSG00000069431
- OMIM: 601439
- UniProtKB: O60706
Previous GeneCards Identifiers for ABCC9 Gene
- GC12M022239
- GC12M021955
- GC12M021852
- GC12M021845
- GC12M021844
- GC12M021723
- GC12M021950
Summaries for ABCC9 Gene
-
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]
GeneCards Summary for ABCC9 Gene
ABCC9 (ATP Binding Cassette Subfamily C Member 9) is a Protein Coding gene. Diseases associated with ABCC9 include Cantu Syndrome and Cardiomyopathy, Dilated, 1O. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include transporter activity and ion channel binding. An important paralog of this gene is ABCC8.
UniProtKB/Swiss-Prot Summary for ABCC9 Gene
-
Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
Additional gene information for ABCC9 Gene
- HGNC(60)
- Entrez Gene(10060)
- Ensembl(ENSG00000069431)
- OMIM(601439)
- UniProtKB(O60706)
- Open Targets Platform(ENSG00000069431)
- Monarch Initiative
- Search for ABCC9 at DataMed
- Search for ABCC9 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCC9 Gene
Genomics for ABCC9 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ABCC9 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J021939 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.7 | 1714 | 3.6 | CTCF ATF7 TEAD4 REST KDM1A SP1 EZH2 CEBPB USF1 ATF3 | ABCC9 lnc-CMAS-3 piR-47211-122 KCNJ8 | |
| GH12J021971 | Enhancer | 0.6 | Ensembl ENCODE | 12.4 | -29.1 | -29050 | 1.2 | FOS TBP DACH1 | ABCC9 piR-55194-087 piR-32023-054 CMAS | |
| GH12J021831 | Enhancer | 0.7 | Ensembl ENCODE | 5.6 | +110.5 | 110498 | 1.7 | SP1 ATF3 YY1 JUND NR2F2 RAD21 EGR1 RXRA SMARCA4 | ABCC9 ENSG00000257022 ENSG00000275567 KCNJ8 piR-57176-116 | |
| GH12J022378 | Enhancer | 0.7 | FANTOM5 Ensembl | 1.3 | -436.1 | -436072 | 2.4 | FOSL1 TCF12 IKZF1 SMARCE1 TEAD4 CBFA2T2 CBFA2T3 ARID1B | C2CD5 ABCC9 ENSG00000256714 piR-48326-002 ST8SIA1 lnc-ST8SIA1-3 CMAS | |
| GH12J021891 | Enhancer | 1.1 | VISTA Ensembl ENCODE | 0.2 | +50.6 | 50627 | 1.5 | SP1 FOXA2 ATF3 YY1 ZBTB33 JUND RAD21 HNF4A RXRA MAX | piR-57176-116 ABCC9 ENSG00000275567 KCNJ8 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ABCC9 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCC9
- Top Transcription factor binding sites by QIAGEN in the ABCC9 gene promoter:
-
- Cart-1
- COUP
- COUP-TF
- COUP-TF1
- GR
- GR-alpha
- HNF-4alpha1
- HNF-4alpha2
- IRF-7A
- ZIC2
Genomic Locations for ABCC9 Gene
Genomic Locations for ABCC9 Gene
- chr12:21,797,389-21,942,529
- (GRCh38/hg38)
- Size:
- 145,141 bases
- Orientation:
- Minus strand
- chr12:21,950,323-22,094,336
- (GRCh37/hg19)
- Size:
- 144,014 bases
- Orientation:
- Minus strand
Genomic View for ABCC9 Gene
Genes around ABCC9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
ABCC9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ABCC9 Gene
Proteins for ABCC9 Gene
-
Protein details for ABCC9 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60706-ABCC9_HUMAN
- Recommended name:
- ATP-binding cassette sub-family C member 9
- Protein Accession:
- O60706
- O60707
Protein attributes for ABCC9 Gene
- Size:
- 1549 amino acids
- Molecular mass:
- 174223 Da
- Quaternary structure:
-
- Interacts with KCNJ11.
- Miscellaneous:
-
- May contribute to the regulation of sleep duration. An intronic variant of this gene may account for about 5% of the variation of sleep duration between individuals (PubMed:22105623). Sleep duration is influenced both by environmental and genetic factors, with an estimated heritability of about 40%. Numerous genes are expected to contribute to the regulation of sleep duration.
Protein Expression for ABCC9 Gene
Selected DME Specific Peptides for ABCC9 Gene
- O60706:
-
- SVGQRQL
- TEIGERG
Post-translational modifications for ABCC9 Gene
Other Protein References for ABCC9 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SUR2 / ABCC9 Antibody
- G Biosciences Immunotag™ ABCC9 Antibody
- Novus Biologicals Antibodies for ABCC9
-
Abcam antibodies for ABCC9
- Invitrogen Antibodies for ABCC9 (AFLGC-ABCC9)
-
Biorbyt antibodies for ABCC9
-
Boster Bio Antibodies for ABCC9
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ABCC9
- Origene Custom Protein Services for ABCC9
- antibodies-online: Show 9 available ABCC9 Proteins ranked by validation data
- Compare Top ABCC9 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 6 available ABCC9 Elisa Kits ranked by validation data
- Compare Top ABCC9 Elisa Kits
-
Quality Products:
Domains & Families for ABCC9 Gene
Gene Families for ABCC9 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for ABCC9 Gene
- InterPro:
- Blocks:
-
- Sulphonylurea receptor family signature
- Sulphonylurea receptor type 2 family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for ABCC9 Gene
- GenScript: Design optimal peptide antigens:
-
- Sulfonylurea receptor 2 (ABCC9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O60706UniProtKB/Swiss-Prot:
ABCC9_HUMAN :- Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
- Family:
-
- Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Function for ABCC9 Gene
Molecular function for ABCC9 Gene
- UniProtKB/Swiss-Prot Function:
- Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
- GENATLAS Biochemistry:
- ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 9
Enzyme Numbers (IUBMB) for ABCC9 Gene
Phenotypes From GWAS Catalog for ABCC9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005261 | contributes_to cation channel activity | ISS | 26621776 |
| GO:0005267 | contributes_to potassium channel activity | IMP | 24439875 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008281 | sulfonylurea receptor activity | IEA,ISS | -- |
Phenotypes for ABCC9 Gene
- MGI mutant phenotypes for ABCC9:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ABCC9:
Animal Model Products
-
Taconic Biosciences Mouse Models for ABCC9
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCC9 - Select products 50% OFF >
- * ABCC9 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABCC9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCC9
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCC9
miRNA for ABCC9 Gene
- miRTarBase miRNAs that target ABCC9
-
- mmu-miR-190a-5p (MIRT013604)
- mmu-miR-136-5p (MIRT015067)
- hsa-miR-142-3p (MIRT021601)
- mmu-miR-883a-3p (MIRT579480)
- mmu-miR-883b-3p (MIRT579481)
- mmu-miR-1954 (MIRT579482)
- mmu-miR-298-5p (MIRT579483)
- mmu-miR-466i-5p (MIRT591511)
- mmu-miR-466l-5p (MIRT591512)
- mmu-miR-466k (MIRT591513)
- mmu-miR-466d-5p (MIRT591514)
- mmu-miR-297b-5p (MIRT591515)
- mmu-miR-297a-5p (MIRT591516)
- mmu-miR-297c-5p (MIRT591517)
- mmu-miR-466p-5p (MIRT591518)
- mmu-miR-1198-5p (MIRT591519)
- mmu-miR-1187 (MIRT591520)
- mmu-miR-466e-5p (MIRT591521)
- mmu-miR-466a-5p (MIRT591522)
- mmu-miR-194-5p (MIRT591523)
- mmu-miR-511-3p (MIRT591524)
- mmu-miR-1935 (MIRT599907)
- mmu-miR-709 (MIRT599908)
- mmu-miR-363-5p (MIRT599909)
- mmu-miR-876-5p (MIRT599910)
- mmu-miR-706 (MIRT604424)
- mmu-miR-339-5p (MIRT604425)
- mmu-miR-292a-5p (MIRT604426)
- mmu-miR-290a-5p (MIRT604427)
- hsa-miR-4668-5p (MIRT626307)
- hsa-miR-514b-3p (MIRT626308)
- hsa-miR-514a-3p (MIRT626309)
- hsa-miR-3978 (MIRT626310)
- hsa-miR-6124 (MIRT626311)
- hsa-miR-3148 (MIRT626312)
- hsa-miR-890 (MIRT626313)
- hsa-miR-4511 (MIRT626314)
- hsa-miR-3133 (MIRT626315)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCC9
- Browse OriGene Inhibitory RNA Products For ABCC9
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCC9
Clone Products
- Applied Biological Materials (abm): Clones for ABCC9 - Select products 50% OFF >
- * ABCC9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG223141
- MG223929
- MG223933
- MG224350
- MR223141
- MR223141L3
- MR223141L4
- MR223929
- MR223929L3
- MR223929L4
- MR223933
- MR223933L3
- MR223933L4
- MR224350
- MR224350L3
- MR224350L4
- RC223539
- RC223539L3
- RC223539L4
- RC224378
- RC224378L3
- RC224378L4
- RG223539
- RG224378
- RR206569
- MR223141L3V
- MR223141L4V
- MR223929L3V
- MR223929L4V
- MR223933L3V
- MR223933L4V
- MR224350L3V
- MR224350L4V
- RC223539L3V
- RC223539L4V
- RC224378L3V
- RC224378L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCC9
Cell Line Products
-
Horizon Cell Lines for ABCC9
No data available for Transcription Factor Targets and HOMER Transcription for ABCC9 Gene
Localization for ABCC9 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ABCC9 Gene
- Membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 3 |
| mitochondrion | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0008282 | inward rectifying potassium channel | ISS | -- |
| GO:0016020 | membrane | IEA,IBA | 21873635 |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030017 | sarcomere | IEA | -- |
Pathways & Interactions for ABCC9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.31
|
|
| 3 | Inwardly rectifying K+ channels | ||
| 4 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 5 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for ABCC9 Gene
9 Reactome pathways for ABCC9 Gene
1 PharmGKB pathway for ABCC9 Gene
1 KEGG pathway for ABCC9 Gene
1 GeneGo (Thomson Reuters) pathway for ABCC9 Gene
- CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
Interacting Proteins for ABCC9 Gene
GPS-Prot Interaction Network for ABCC9
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0033198 | response to ATP | ISS | 26621776 |
| GO:0051607 | defense response to virus | IMP | 18026101 |
| GO:0055085 | transmembrane transport | IBA,TAS | -- |
| GO:0061337 | cardiac conduction | IMP | 24439875 |
No data available for SIGNOR curated interactions for ABCC9 Gene
Drugs & Compounds for ABCC9 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, modulator | Kir6 (KATP) channel blocker | 127 | |
| Nicorandil | Approved, Investigational | Pharma | Activator, Target, activator | Potassium channel activator, Kir6 (KATP) channel opener and NO donor | 23 | |
| Montelukast | Approved | Pharma | Antagonist | 302 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation, Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ABCC9 Gene
mRNA/cDNA for ABCC9 Gene
- 5 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261200 8293 nts (view in UCSC)
- ENST00000544039 3531 nts (view in UCSC)
- ENST00000261201 4650 nts (view in UCSC)
- ENST00000326684 1693 nts (view in UCSC)
- ENST00000538350 2672 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCC9 - Select products 50% OFF >
- * ABCC9 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABCC9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCC9
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCC9
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCC9
- Browse OriGene Inhibitory RNA Products For ABCC9
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCC9
Clone Products
- Applied Biological Materials (abm): Clones for ABCC9 - Select products 50% OFF >
- * ABCC9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG223141
- MG223929
- MG223933
- MG224350
- MR223141
- MR223141L3
- MR223141L4
- MR223929
- MR223929L3
- MR223929L4
- MR223933
- MR223933L3
- MR223933L4
- MR224350
- MR224350L3
- MR224350L4
- RC223539
- RC223539L3
- RC223539L4
- RC224378
- RC224378L3
- RC224378L4
- RG223539
- RG224378
- RR206569
- MR223141L3V
- MR223141L4V
- MR223929L3V
- MR223929L4V
- MR223933L3V
- MR223933L4V
- MR224350L3V
- MR224350L4V
- RC223539L3V
- RC223539L4V
- RC224378L3V
- RC224378L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCC9
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - |
Relevant External Links for ABCC9 Gene
- GeneLoc Exon Structure for
- ABCC9
Expression for ABCC9 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Pericytes Splanchnic Mesoderm
- Brain (Nervous System)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
- Germ Cells (Reproductive System)
- Gonad
-
Dermis (Integumentary System)
mRNA differential expression in normal tissues according to GTEx for ABCC9 Gene
This gene is overexpressed in Muscle - Skeletal (x5.6).
This gene is overexpressed in Bone marrow mesenchymal stem cell (63.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCC9 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCC9
SOURCE GeneReport for Unigene cluster for ABCC9 Gene:
Hs.732701Evidence on tissue expression from TISSUES for ABCC9 Gene
- Heart(3)
- Muscle(2.9)
- Liver(2.7)
- Nervous system(2.4)
- Blood(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC9 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- scalp
- skull
- tongue
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- lymph node
- lymph vessel
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ABCC9
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for ABCC9 Gene
Orthologs for ABCC9 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ABCC9 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ABCC9 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ABCC9 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ABCC9 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Abcc9 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Abcc9 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Chicken (Gallus gallus) |
Aves | ABCC9 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ABCC9 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcc9 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18555 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | abcc9 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sur 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009799 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | C18C4.2 32 |
|
|
|
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.2081 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for ABCC9 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ABCC9 Gene
- ENSEMBL:
- Gene Tree for ABCC9 (if available)
- TreeFam:
- Gene Tree for ABCC9 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ABCC9: view image
Paralogs for ABCC9 Gene
Paralogs for ABCC9 Gene
(22) SIMAP similar genes for ABCC9 Gene using alignment to 5 proteins:
- ABCC9_HUMAN
- G3V1N6_HUMAN
- H0YFV4_HUMAN
- K4DI86_HUMAN
- Q8N4N7_HUMAN
Variants for ABCC9 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCC9 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636608 | Uncertain Significance: not provided | 21,933,907(-) | GC/G | FRAMESHIFT_VARIANT | |
| 640130 | Uncertain Significance: Dilated cardiomyopathy 1O | 21,844,764(-) | T/G | INTRON_VARIANT | |
| 640543 | Uncertain Significance: Dilated cardiomyopathy 1O | 21,872,624(-) | C/T | SPLICE_DONOR_VARIANT | |
| 642464 | Uncertain Significance: Dilated cardiomyopathy 1O | 21,910,215(-) | G/A | MISSENSE_VARIANT | |
| 645509 | Uncertain Significance: Dilated cardiomyopathy 1O | 21,812,160(-) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1937162 | CNV | deletion | 18987734 |
| esv2109102 | CNV | deletion | 18987734 |
| esv2142868 | CNV | deletion | 18987734 |
| esv2439418 | CNV | insertion | 19546169 |
| esv2662950 | CNV | deletion | 23128226 |
| esv2745624 | CNV | deletion | 23290073 |
| esv2745625 | CNV | deletion | 23290073 |
| esv2745626 | CNV | deletion | 23290073 |
| esv2745627 | CNV | deletion | 23290073 |
| esv2745628 | CNV | deletion | 23290073 |
| esv3580185 | CNV | loss | 25503493 |
| nsv1122706 | CNV | deletion | 24896259 |
| nsv470275 | CNV | gain | 18288195 |
| nsv53503 | CNV | deletion | 16902084 |
| nsv53790 | CNV | deletion | 16902084 |
| nsv557741 | CNV | gain | 21841781 |
| nsv557744 | CNV | loss | 21841781 |
| nsv557754 | CNV | loss | 21841781 |
| nsv557755 | CNV | loss | 21841781 |
| nsv638 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
1.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.35;
41.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ABCC9 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC9 Gene
Disorders for ABCC9 Gene
(20) MalaCards diseases for ABCC9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cantu syndrome |
|
|
| cardiomyopathy, dilated, 1o |
|
|
| atrial fibrillation, familial, 12 |
|
|
| acromegaloid hypertrichosis syndrome |
|
|
| acromegaloid facial appearance syndrome |
|
|
Search ABCC9 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ABCC9_HUMAN- Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:15034580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:17245405}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO:0000269 PubMed:22608503, ECO:0000269 PubMed:22610116, ECO:0000269 PubMed:26621776}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ABCC9
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ABCC9 Gene
Publications for ABCC9 Gene
- Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9. (PMID: 19952277) Ellis JA … Harrap SB (Physiological genomics 2010) 3 23 41
- ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. (PMID: 15034580) Bienengraeber M … Terzic A (Nature genetics 2004) 2 3 4
- Toward understanding the assembly and structure of KATP channels. (PMID: 9457174) Aguilar-Bryan L … Bryan J (Physiological reviews 1998) 2 3 4
- Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. (PMID: 26621776) Cooper PE … Nichols CG (The Journal of general physiology 2015) 3 4
- A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. (PMID: 22105623) Allebrandt KV … Roenneberg T (Molecular psychiatry 2013) 3 4
ExternalLinks
Products for ABCC9 Gene
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- Boster Bio Antibodies for ABCC9
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for ABCC9
Sources for ABCC9 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
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- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB