NPC2 Chromosome 14
NPC intracellular cholesterol transporter 2
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What This Gene Does
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|MD-2 related lipid recognition domain containing"
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119655
Associated Conditions (7)
Niemann-Pick disease
type C2
NPC2-related disorder
Inborn genetic diseases
type C1
type C
Nonpapillary renal cell carcinoma
Key Variants
RS1011669605
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, NPC2-related disorder
Health Risk
RS104894458
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, type C1
Health Risk
RS113587712
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, Niemann-Pick disease
Health Risk
RS1404077821
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Niemann-Pick disease
Health Risk
RS143960270
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Niemann-Pick disease
Health Risk
RS151071820
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, type C1
Health Risk
RS200463204
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C1, type C2
Health Risk
RS374489111
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Inborn genetic diseases
Health Risk
RS758503440
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Inborn genetic diseases
Health Risk
RS761208847
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Inborn genetic diseases
Health Risk
RS766378122
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Niemann-Pick disease
Health Risk
RS773836291
Conflicting classifications of pathogenicity
Niemann-Pick disease, type C2, Niemann-Pick disease
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS80358264 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, type C |
| RS80358265 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS80358266 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, type C |
| RS80358267 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS879253740 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS1376058648 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C2, type C |
| RS2086689501 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS80358262 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C2, type C |
| RS80358268 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |