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 ATPase-coupled transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within potassium ion transport. Predicted to be located in plasma membrane. Predicted to be part of protein-containing complex. Predicted to be active in 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, 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 | 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 |
| 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