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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NPC2
NPC intracellular cholesterol transporter 2
Chromosome 14 Β· 14q24.3
NCBI Gene: 10577Ensembl: ENSG00000119655.11HGNC: HGNC:14537UniProt: A0A024R6C0
114PubMed Papers
21Diseases
0Drugs
59Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular cholesterol transportlipid carrier activityprotein bindingcholesterol bindingNiemann-Pick disease, type C2Niemann-Pick diseaseNiemann-Pick disease type Cgenetic disorder
✦AI Summary

NPC2 is a lysosomal cholesterol transporter essential for intracellular cholesterol homeostasis. It functions by accepting unesterified cholesterol released from LDL in late endosomes/lysosomes and transferring it to NPC1's N-terminal cholesterol-binding pocket in a 1:1 stoichiometric manner 12. Beyond cholesterol, NPC2 can bind diverse sterols including lathosterol, desmosterol, and plant sterols 1. The protein may also mobilize membrane-associated cholesterol 3, and its secreted form regulates biliary cholesterol secretion via ABCG5/ABCG8 stimulation. Dysfunction of NPC2 causes Niemann-Pick disease type C2 (NP-C2), an autosomal recessive lysosomal storage disorder affecting ~1/120,000 live births 4. Mutations in NPC2 account for approximately 5% of NP-C cases, the remainder involving NPC1 45. The disease manifests as a neurovisceral disorder with cholesterol and ganglioside accumulation in lysosomes, presenting with variable severity from neonatal lethality to adult-onset neurodegeneration characterized by ataxia, gaze palsy, and progressive dementia 46. Beyond genetic disease, NPC2 expression is upregulated in cancer cells to mobilize cholesterol for rapid membrane synthesis during tumor growth 7. Additionally, inhibition of NPC2 cholesterol binding can induce immunogenic cell death, offering potential cancer therapeutic opportunities 8.

Sources cited
1
NPC2 transfers cholesterol to NPC1 with 1:1 stoichiometry and can bind multiple sterol types
PMID: 17018531
2
NPC2 transfers cholesterol from lysosomal lumen to NPC1
PMID: 18772377
3
NPC2 may bind and mobilize membrane-associated cholesterol
PMID: 18823126
4
NPC2 mutations cause Niemann-Pick disease type C2, a lysosomal lipid storage disorder affecting ~1/120,000 births
PMID: 20525256
5
NPC2 gene mutations account for ~5% of Niemann-Pick disease type C cases
PMID: 37003582
6
NPC disease results from impaired cholesterol transport in lysosomes due to NPC1 or NPC2 mutations
PMID: 34596813
7
NPC2 expression is upregulated in tumor cells to mobilize lysosomal cholesterol for tumor growth
PMID: 37927089
8
NPC2 inhibition promotes lysosomal cholesterol accumulation and immunogenic cell death
PMID: 39663580
Disease Associationsβ“˜21
Niemann-Pick disease, type C2Open Targets
0.79Strong
Niemann-Pick diseaseOpen Targets
0.74Strong
Niemann-Pick disease type COpen Targets
0.52Moderate
genetic disorderOpen Targets
0.49Moderate
glaucomaOpen Targets
0.46Moderate
open-angle glaucomaOpen Targets
0.45Moderate
Niemann-Pick disease, type C1Open Targets
0.40Weak
DystoniaOpen Targets
0.37Weak
Niemann-Pick disease type C, adult neurologic onsetOpen Targets
0.37Weak
Niemann-Pick disease type C, juvenile neurologic onsetOpen Targets
0.37Weak
Niemann-Pick disease type C, late infantile neurologic onsetOpen Targets
0.37Weak
Niemann-Pick disease type C, severe early infantile neurologic onsetOpen Targets
0.37Weak
Niemann-Pick disease type C, severe perinatal formOpen Targets
0.37Weak
refractive errorOpen Targets
0.34Weak
Abnormality of refractionOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.30Weak
Global developmental delayOpen Targets
0.26Weak
Brain atrophyOpen Targets
0.26Weak
microcephalyOpen Targets
0.26Weak
SeizureOpen Targets
0.26Weak
Niemann-Pick disease C2UniProt
Pathogenic Variants59
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 20
NM_006432.5(NPC2):c.190+5G>APathogenic
Niemann-Pick disease, type C2
β˜…β˜…β˜†β˜†2025
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C1|Niemann-Pick disease, type C
β˜…β˜…β˜†β˜†2025β†’ Residue 120
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)Pathogenic
Niemann-Pick disease, type C2|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 47
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C
β˜…β˜…β˜†β˜†2024β†’ Residue 118
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C
β˜…β˜…β˜†β˜†2023β†’ Residue 94
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C
β˜…β˜…β˜†β˜†2023β†’ Residue 1
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C
β˜…β˜…β˜†β˜†2023β†’ Residue 99
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)Pathogenic
Niemann-Pick disease, type C2
β˜…β˜…β˜†β˜†2023β†’ Residue 72
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)Pathogenic
Niemann-Pick disease, type C2|Niemann-Pick disease, type C
β˜…β˜…β˜†β˜†2023β†’ Residue 45
NM_006432.5(NPC2):c.326del (p.Tyr109fs)Likely pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2025β†’ Residue 109
NM_006432.5(NPC2):c.332del (p.Asn111fs)Pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2025β†’ Residue 111
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter)Pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024β†’ Residue 36
NM_006432.5(NPC2):c.289del (p.Ile97fs)Pathogenic
Sphingomyelin/cholesterol lipidosis
β˜…β˜†β˜†β˜†2024β†’ Residue 97
NM_006432.5(NPC2):c.79dup (p.Cys27fs)Pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024β†’ Residue 27
NM_006432.5(NPC2):c.83-2A>TLikely pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024
NM_006432.5(NPC2):c.454dup (p.Ter152LeuextTer?)Likely pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024β†’ Residue 152
NM_006432.5(NPC2):c.202A>T (p.Lys68Ter)Likely pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024β†’ Residue 68
NM_006432.5(NPC2):c.87_91delinsCACAGAACCTGCAAATCCACAATGGAGTTATAAAGGAAGTTATAAATCCACA (p.Val30fs)Likely pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024β†’ Residue 30
NM_006432.5(NPC2):c.3G>T (p.Met1Ile)Pathogenic
Niemann-Pick disease, type C2
β˜…β˜†β˜†β˜†2024β†’ Residue 1
View on ClinVar β†—
Related Genes
STARD3Protein interaction94%GM2AProtein interaction81%LIPAProtein interaction73%NUDT19Protein interaction72%SCAPProtein interaction71%NPC1Protein interaction65%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
49%
Ovary
48%
Heart
31%
Liver
21%
Brain
20%
Gene Interaction Network
Click a node to explore
NPC2STARD3GM2ALIPANUDT19SCAPNPC1
PROTEIN STRUCTURE
Preparing viewer…
PDB5KWY Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.42LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.95 [0.65–1.42]
RankingsWhere NPC2 stands among ~20K protein-coding genes
  • #4,157of 20,598
    Most Researched114 Β· top quartile
  • #1,185of 5,498
    Most Pathogenic Variants59 Β· top quartile
  • #14,655of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedNPC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Niemann-Pick disease type C.
PMID: 20525256
Orphanet J Rare Dis Β· 2010
1.00
2
Treatment trials in Niemann-Pick type C disease.
PMID: 34596813
Metab Brain Dis Β· 2021
0.90
3
SREBF1/SREBP-1 concurrently regulates lipid synthesis and lipophagy to maintain lipid homeostasis and tumor growth.
PMID: 37927089
Autophagy Β· 2024
0.80
4
Lysosomal damage due to cholesterol accumulation triggers immunogenic cell death.
PMID: 39663580
Autophagy Β· 2025
0.70
5
USP19 exacerbates lipogenesis and colorectal carcinogenesis by stabilizing ME1.
PMID: 34965422
Cell Rep Β· 2021
0.60