ZFIN is now using GRCz12tu for Genomic Data
Gene
abcc8
- ID
- ZDB-GENE-050517-22
- Name
- ATP binding cassette subfamily C member 8
- Symbol
- abcc8 Nomenclature History
- Previous Names
-
- zSur1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable ABC-type transporter activity. Acts upstream of or within cellular response to glucose stimulus. 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 diencephalon; forebrain; hindbrain; and midbrain. Used to study hyperinsulinemic hypoglycemia. Human ortholog(s) of this gene implicated in glucose metabolism disease (multiple); hypertension; and stroke. 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
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 2 | Alliance | Diabetes mellitus, transient neonatal 2 | 610374 |
| type 2 diabetes mellitus | Alliance | Diabetes mellitus, noninsulin-dependent | 125853 |
| Diabetes mellitus, permanent neonatal 3 | 618857 | ||
| Maturity-onset diabetes of the young, type 12 | 621196 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hyperinsulinemic hypoglycemia | abcc8sa15863/sa15863 | standard conditions | Juliana et al., 2024 |
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 |
| 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 subfamily C member 8 | ATP-binding cassette sub-family C member 8/9 | ATP-binding cassette transporter C-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1NTE0 | InterPro | 1581 | |||||||||
| UniProtKB:F1QMZ9 | InterPro | 1594 | |||||||||
| UniProtKB:A0A8M9PUX9 | InterPro | 781 | |||||||||
| UniProtKB:A0A8M3AP51 | InterPro | 1534 | |||||||||
| UniProtKB:A0AC58IVB0 | InterPro | 1386 | |||||||||
| UniProtKB:A0AC58IVB2 | InterPro | 1534 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers