Property Summary

NCBI Gene PubMed Count 66
PubMed Score 163.41
PubTator Score 163.99

Knowledge Summary


No data available


  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 6.14057092153359E-34
Duchenne muscular dystrophy 602 1.02371980676991E-9
lung cancer 4473 6.58494397421368E-7
posterior fossa group A ependymoma 1511 8.27708671594157E-7
pilocytic astrocytoma 3086 8.64811987926019E-7
glioblastoma 5572 2.73101340586676E-5
medulloblastoma, large-cell 6234 3.22026411091277E-5
ovarian cancer 8492 7.75788628081409E-5
atypical teratoid / rhabdoid tumor 4369 2.36247287184846E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 8.51916441760471E-4
Down syndrome 548 0.00127769466385819
pediatric high grade glioma 2712 0.00161450377718617
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00524387660301583
subependymal giant cell astrocytoma 2287 0.0100217860339023
astrocytoma 1493 0.0239547650515601
Disease Target Count Z-score Confidence
Niemann-Pick disease 11 7.282 3.6
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 3.229 1.6
Cerebellar Ataxia 72 3.172 1.6
Disease Target Count
Niemann-Pick disease C2 1



Accession P61916 B4DQV7 Q15668 Q29413
Symbols HE1




 IMPC Term (1)

Gene RIF (49)

26846330 Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions
26296895 hypothesize that, in part, NPC2 rapidly traffics cholesterol between closely appositioned membranes within the multilamellar interior of late endosomal/lysosomal proteins, ultimately effecting cholesterol egress from this compartment
25764212 Our data suggest an incidence rate for NPC1 and NPC2 of 1/92,104 and 1/2,858,998, respectively. Evaluation of common NPC1 variants, however, suggests that there may be a late-onset NPC1 phenotype with a markedly higher incidence.
25754535 NPC2 may play an important role in negatively regulate cell proliferation.
25251378 Data suggest that in order for the ligand cholesterol to slide from one binding pocket to the other (from NPC2 to NPC1), cholesterol undergoes conformational change/isomerization to accommodate the bent transfer pathway between the 2 binding pockets.
25220527 heterozygous mutations in the NPC1/2 gene might be a risk factor for Alzheimer's disease
24915861 twelve individuals were subsequently confirmed to be NP-C by DNA analysis of NPC1 and NPC2 genes, with the early infantile form, the late infantile form, the juvenile form, and the adult form
24709320 Suggest role for mouse epididymal NPC2 in regulating male fertility.
24501203 these results suggest that the vitamin A-mediated antimicrobial mechanism against M. tuberculosis requires NPC2-dependent expression and function, indicating a key role for cellular cholesterol regulation in the innate immune response.
24438076 Recombinant NPC2 protein increases triglyceride levels in body fat.

AA Sequence

WEIPVQIVSHL                                                               141 - 151

Text Mined References (76)

PMID Year Title
26846330 2016 Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.
26296895 2015 Multiple Surface Regions on the Niemann-Pick C2 Protein Facilitate Intracellular Cholesterol Transport.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25764212 2016 High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
25754535 2015 Niemann-Pick type C2 protein regulates liver cancer progression via modulating ERK1/2 pathway: Clinicopathological correlations and therapeutical implications.
25251378 2014 Niemann-Pick type C disease: a QM/MM study of conformational changes in cholesterol in the NPC1(NTD) and NPC2 binding pockets.
25220527 2014 Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease.
24915861 2014 Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
24709320 2014 Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilising ability.
24501203 2014 All-trans retinoic acid-triggered antimicrobial activity against Mycobacterium tuberculosis is dependent on NPC2.