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. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 1; hyperinsulinism; hypertension; permanent neonatal diabetes mellitus; and type 2 diabetes mellitus. Is expressed in diencephalon; forebrain; hindbrain; and midbrain. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8).
Genome Resources
Note
None
Comparative Information
Expression
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
All Phenotype Data
2 figures from Ikle et al., 2022
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
Diabetes mellitus, noninsulin-dependent 125853
Diabetes mellitus, permanent neonatal 3, with or without neurologic features 618857
Diabetes mellitus, transient neonatal 2 610374
Hyperinsulinemic hypoglycemia, familial, 1 256450
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-like, conserved site
Domain IPR003439 ABC transporter-like, ATP-binding domain
Domain IPR003593 AAA+ ATPase domain
Domain IPR011527 ABC transporter type 1, transmembrane domain
Family IPR000388 ATP-binding cassette sub-family C member 8/9
Family IPR000844 ATP-binding cassette subfamily C member 8
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-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 subfamily C member 8 ATP-binding cassette sub-family C member 8/9 P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A8M1NTE0 1581
UniProtKB:F1QMZ9 1594
UniProtKB:A0A8M9PUX9 781
UniProtKB:A0A8M3AP51 1534
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations