Gene
abcc6b.2
- ID
- ZDB-GENE-110208-2
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 6b, tandem duplicate 2
- Symbol
- abcc6b.2 Nomenclature History
- Previous Names
-
- abcc6c
- zmp:0000001324
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable ATPase-coupled transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in arterial calcification of infancy; coronary artery disease; and pseudoxanthoma elasticum. Orthologous to human ABCC6 (ATP binding cassette subfamily C member 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Li et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Li et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arterial calcification of infancy | Alliance | Arterial calcification, generalized, of infancy, 2 | 614473 |
| pseudoxanthoma elasticum | Alliance | Pseudoxanthoma elasticum | 264800 |
| pseudoxanthoma elasticum | Alliance | Pseudoxanthoma elasticum, forme fruste | 177850 |
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 | IPR005292 | Multi drug resistance-associated protein |
| 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 transporter C-like | Multi drug resistance-associated protein | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A140LGU2 | InterPro | 1502 | ||||||||
| UniProtKB:A0A8M6YXP8 | InterPro | 1502 | ||||||||
| UniProtKB:A0A8M9PZJ9 | InterPro | 829 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abcc6b.2-201
(1)
|
Ensembl | 4,368 nt | ||
| mRNA |
abcc6b.2-202
(1)
|
Ensembl | 4,934 nt | ||
| mRNA |
abcc6b.2-203
(1)
|
Ensembl | 4,326 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance