NPC2 Chromosome 14
NPC intracellular cholesterol transporter 2
Upload your DNA to see your personal genotypes for variants in NPC2.
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 |
|---|---|---|---|
| RS1011669605 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, NPC2-related disorder |
| RS104894458 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, type C1 |
| RS113587712 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C1, Niemann-Pick disease |
| RS1404077821 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS143960270 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS151071820 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, type C1 |
| RS200463204 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C1, type C2 |
| RS374489111 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Inborn genetic diseases |
| RS758503440 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Inborn genetic diseases |
| RS761208847 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Inborn genetic diseases |
| RS766378122 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS773836291 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS781255433 | Health Risk | Conflicting classifications of pathogenicity | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS1555345873 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS1555346369 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086686955 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Nonpapillary renal cell carcinoma |
| RS2086687086 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086687425 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086687862 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086687936 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086712538 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506104379 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506104570 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506104627 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506104683 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107051 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107075 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107168 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107182 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107289 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107370 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506115406 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506115412 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS777654308 | Health Risk | Likely pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS104894457 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, type C |
| RS11694 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS1320549584 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS1555345616 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS1555346368 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086712268 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086712337 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2086712682 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2139668010 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2139670174 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506107250 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS2506115622 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS483352893 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, type C |
| RS767899043 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Niemann-Pick disease |
| RS80358260 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, type C |
| RS80358263 | Health Risk | Pathogenic | Niemann-Pick disease, type C2, Inborn genetic diseases |