ZFIN ID: ZDB-GENE-021206-13
Gene Name: Niemann-Pick disease, type C2
Gene Symbol: npc2    Nomenclature History

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Previous Names: cb292 (1), sb:cb292 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Predicted to have cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cholesterol efflux and intracellular cholesterol transport. Predicted to localize to the endoplasmic reticulum; extracellular region; and lysosome. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Is expressed in yolk syncytial layer. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2).
Genome Resources: Alliance (1),  Gene:282673 (1),  Ensembl(GRCz11):ENSDARG00000090912 (2)
GENE EXPRESSION
Directly Submitted Expression Data: 6 figures (6 images) from Thisse et al., 2001 [cb292]
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Hatching:Long-pec (48.0h-60.0h)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
DISEASE ASSOCIATED WITH npc2 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
DISEASE ASSOCIATED WITH npc2 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process cholesterol metabolic process (more)
Cellular Component endoplasmic reticulum (more)
Molecular Function cholesterol binding (more)
GO Terms (all 12)
PROTEIN FAMILIES, DOMAINS AND SITES
Type InterPro ID Name
Domain IPR003172 MD-2-related lipid-recognition domain
Homologous_superfamily IPR014756 Immunoglobulin E-set
Domain IPR033916 Npc2 like, ML domain
Family IPR039670 Sterol transport protein NPC2-like
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA npc2-201 (1)    Ensembl 1023
npc2-202 (1)    Ensembl 803
ncRNA npc2-002 (1)    Ensembl 886
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM npc2 No data available
MARKER RELATIONSHIPS
npc2 Contained in: [BAC] CH73-307J11 (1), DKEY-1F12 (1) (order this)
npc2 Encodes: [EST] af291663, cb292 (2) (order this)
[cDNA] MGC:56070 (1)
SEQUENCE INFORMATION
Type Accession # Length (bp/aa) Analysis
RNA RefSeq:NM_173224 (1) 1031 bp
Genomic GenBank:CR759765 (1) 224482 bp Blast at MegaBLAST
Polypeptide UniProtKB:Q9DGJ3 (1) 149 aa
Sequence Information (all 18)
ORTHOLOGY for npc2 ( Chr: 17 )
CITATIONS (23)