Gene
npc2.1
- ID
- ZDB-GENE-021206-13
- Name
- NPC intracellular cholesterol transporter 2, tandem duplicate 1
- Symbol
- npc2.1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable cholesterol binding activity. Acts upstream of or within several processes, including embryonic organ morphogenesis; nervous system development; and otic vesicle development. Predicted to be located in endoplasmic reticulum; extracellular region; and lysosome. Is expressed in several structures, including heart; liver; muscle; pleuroperitoneal region; and yolk syncytial layer. 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
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb292 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 20 figures from 3 publications
- 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 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Immunoglobulin E-set | MD-2-related lipid-recognition domain | Npc2 like, ML domain | Sterol transport protein NPC2-like |
|---|---|---|---|---|---|---|
| UniProtKB:Q9DGJ3 | InterPro | 149 | ||||
| UniProtKB:A0A8M9PE29 | InterPro | 149 |
1 - 2 of 2
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available