ZFIN is now using GRCz12tu for Genomic Data
Gene
abcc9
- ID
- ZDB-GENE-050517-23
- Name
- ATP binding cassette subfamily C member 9
- Symbol
- abcc9 Nomenclature History
- Previous Names
-
- si:dkey-183c2.3
- SUR2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 membrane. Predicted to be part of inward rectifying potassium channel. Predicted to be active in plasma 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 | (2) |
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 | |||||||||
| UniProtKB:A0AC58J7A6 | InterPro | 1570 | |||||||||
| UniProtKB:A0AC58J7A7 | InterPro | 1570 | |||||||||
| UniProtKB:A0AC58J7A8 | InterPro | 1571 | |||||||||
| UniProtKB:A0AC58J7A9 | InterPro | 1570 | |||||||||
| UniProtKB:A0AC58J7B0 | InterPro | 1571 | |||||||||
| UniProtKB:A0AC58J7B1 | InterPro | 1558 | |||||||||
| UniProtKB:A0AC58J7B2 | InterPro | 1558 | |||||||||
| UniProtKB:A0AC58J7B5 | InterPro | 1557 | |||||||||
| UniProtKB:A0AC58J7B8 | InterPro | 1557 | |||||||||
| UniProtKB:A0AC58J7C6 | InterPro | 1558 | |||||||||
| UniProtKB:A0AC58J7D1 | InterPro | 1557 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers