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Gene

npc2.1

ID
ZDB-GENE-021206-13
Name
NPC intracellular cholesterol transporter 2, tandem duplicate 1
Symbol
npc2.1 Nomenclature History
Previous Names
  • npc2
  • cb292 (1)
  • sb:cb292 (1)
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 act upstream of or within cholesterol metabolic process and lipid transport. Predicted to be located in endoplasmic reticulum; extracellular region; and lysosome. Is expressed in 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
Expression
All Expression Data
6 figures from Thisse et al., 2001
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With npc2.1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Niemann-Pick disease type C2 Alliance Niemann-pick disease, type C2 607625
Associated With npc2.1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003172 MD-2-related lipid-recognition domain
Domain IPR033916 Npc2 like, ML domain
Family IPR039670 Sterol transport protein NPC2-like
Homologous_superfamily IPR014756 Immunoglobulin E-set
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:Q9DGJ3 149
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations