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
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ikle et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hyperinsulinemic hypoglycemia 1 | Alliance | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 |
| leucine-sensitive hypoglycemia of infancy | Alliance | Hypoglycemia of infancy, leucine-sensitive | 240800 |
| 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 |
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 |
Interactions and Pathways
No data available
Plasmids
No data available