Gene

abcc8

ID
ZDB-GENE-050517-22
Name
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Symbol
abcc8 Nomenclature History
Previous Names
  • zSur1 (1)
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Predicted to have ATPase-coupled transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to localize to membrane. Is expressed in diencephalon; forebrain; hindbrain; and midbrain. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 1; hyperinsulinism; hypertension; and type 2 diabetes mellitus. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With abcc8 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
familial hyperinsulinemic hypoglycemia 1 Alliance Hyperinsulinemic hypoglycemia, familial, 1 256450
transient neonatal diabetes mellitus Alliance Diabetes mellitus, transient neonatal 2 610374
type 2 diabetes mellitus Alliance Diabetes mellitus, noninsulin-dependent 125853
Diabetes mellitus, permanent neonatal 3, with or without neurologic features 618857
Hypoglycemia of infancy, leucine-sensitive 240800
Associated With abcc8 Via Experimental Models
No data available
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 IPR000844 ATP-binding cassette subfamily C member 8
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 8 ATP-binding cassette subfamily C member 9 P-loop containing nucleoside triphosphate hydrolase Sulphonylurea receptor
UniProtKB:Q2HX27 467
UniProtKB:A0A2R8QQQ1 1570
UniProtKB:F8W367 1581
UniProtKB:A0A2R8PW04 1523
UniProtKB:F1QMZ9 1594
UniProtKB:Q5R204 132
UniProtKB:F8W4W3 200
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