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
Exhibits ATP-activated inward rectifier potassium channel activity. Involved in regulation of heart contraction. Predicted to localize to 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; and hypertrichotic osteochondrodysplasia Cantu type. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With abcc9 Human Ortholog
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 239850
Associated With abcc9 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017871 ABC transporter, conserved site
Domain IPR003439 ABC transporter-like
Domain IPR003593 AAA+ ATPase domain
Domain IPR011527 ABC transporter type 1, transmembrane domain
Family IPR000388 Sulphonylurea receptor
Family IPR001475 ATP-binding cassette subfamily C member 9
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036640 ABC transporter type 1, transmembrane domain superfamily
Domain Details Per Protein
Protein Length AAA+ ATPase domain ABC transporter, conserved site ABC transporter-like ABC transporter type 1, transmembrane domain ABC transporter type 1, transmembrane domain superfamily ATP-binding cassette subfamily C member 9 P-loop containing nucleoside triphosphate hydrolase Sulphonylurea receptor
UniProtKB:Q2HX28 1409
UniProtKB:B3DJS1 1557
UniProtKB:Q5RH87 1558
UniProtKB:A0A0R4IAS5 1557
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations