Gene
npc2.2
- ID
- ZDB-GENE-080723-11
- Name
- NPC intracellular cholesterol transporter 2, tandem duplicate 2
- Symbol
- npc2.2 Nomenclature History
- Previous Names
-
- zgc:193713
- zgc:193725
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable cholesterol binding activity. Predicted to be involved in cholesterol efflux and intracellular cholesterol transport. Predicted to be located in extracellular region. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2).
- 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 |
|---|---|---|---|
| Niemann-Pick disease type C2 | Alliance | Niemann-pick disease, type C2 | 607625 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Immunoglobulin E-set | MD-2-related lipid-recognition domain | Npc2 like, ML domain | Sterol transport protein NPC2-like |
|---|---|---|---|---|---|
|
UniProtKB:B3DFW4
|
149 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
npc2 (1 of many)-201
(1)
|
Ensembl | 516 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance