Gene
abcc8b
- ID
- ZDB-GENE-120215-45
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 8b
- Symbol
- abcc8b Nomenclature History
- Previous Names
-
- si:ch73-347o10.1
- zmp:0000001173
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable ABC-type transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in glucose metabolism disease (multiple) and hypertension. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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 | 618857 | ||
| Maturity-onset diabetes of the young, type 12 | 621196 |
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 | 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 sub-family C member 8/9 | ATP-binding cassette transporter C-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9P1L1 | InterPro | 798 | ||||||||
| UniProtKB:A0A8M9PAN8 | InterPro | 1597 | ||||||||
| UniProtKB:A0A8M9P1K6 | InterPro | 1607 | ||||||||
| UniProtKB:A0A8M9PG34 | InterPro | 1597 | ||||||||
| UniProtKB:A0A8M9PR49 | InterPro | 1593 | ||||||||
| UniProtKB:A0A8M9PMX8 | InterPro | 1586 | ||||||||
| UniProtKB:A0AB32TC85 | InterPro | 1604 | ||||||||
| UniProtKB:A0AB32TDX1 | InterPro | 1608 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abcc8b-201
(1)
|
Ensembl | 4,587 nt | ||
| mRNA |
abcc8b-202
(1)
|
Ensembl | 4,545 nt | ||
| mRNA |
abcc8b-203
(1)
|
Ensembl | 4,479 nt |
Interactions and Pathways
No data available
Plasmids
No data available