Gene
abcc9
- ID
- ZDB-GENE-050517-23
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 9
- Symbol
- abcc9 Nomenclature History
- Previous Names
-
- si:dkey-183c2.3
- SUR2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Enables ATP-activated inward rectifier potassium channel activity. Acts upstream of or within regulation of heart contraction and regulation of potassium:proton exchanging ATPase activity. Predicted to be located in plasma membrane. Predicted to be part of protein-containing complex. Predicted to be active in membrane. Is expressed in heart. Used to study hypertrichotic osteochondrodysplasia Cantu type. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; hypertrichotic osteochondrodysplasia Cantu type; and intellectual disability and myopathy syndrome. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dilated cardiomyopathy 1O | Alliance | Cardiomyopathy, dilated, 1O | 608569 |
| familial atrial fibrillation | Alliance | ?Atrial fibrillation, familial, 12 | 614050 |
| hypertrichotic osteochondrodysplasia Cantu type | Alliance | Hypertrichotic osteochondrodysplasia (Cantu syndrome) | 239850 |
| intellectual disability and myopathy syndrome | Alliance | Intellectual disability and myopathy syndrome | 619719 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hypertrichotic osteochondrodysplasia Cantu type | abcc9hu11838/+ | standard conditions | Tessadori et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
| Domain | IPR047080 | ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1 |
| Family | IPR000388 | ATP-binding cassette sub-family C member 8/9 |
| Family | IPR050173 | ATP-binding cassette transporter C-like |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | ATP-binding cassette sub-family C member 8/9 | ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1 | ATP-binding cassette transporter C-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6YY04 | InterPro | 1570 | |||||||||
| UniProtKB:A0A8M2BBV1 | InterPro | 1571 | |||||||||
| UniProtKB:Q5RH87 | InterPro | 1558 | |||||||||
| UniProtKB:A0A8M2BC16 | InterPro | 1583 | |||||||||
| UniProtKB:A0A0R4IAS5 | InterPro | 1557 | |||||||||
| UniProtKB:A0A8M2BBT3 | InterPro | 1583 | |||||||||
| UniProtKB:A0A8M6Z5C5 | InterPro | 1582 | |||||||||
| UniProtKB:A0A8M2BBZ7 | InterPro | 1558 | |||||||||
| UniProtKB:A0AB32TQY8 | InterPro | 1571 |
Interactions and Pathways
No data available
Plasmids
No data available