Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10577
MIM: 601015
HGNC: 14537
Ensembl: ENSG00000119655
Variants:
dbSNP: 10577
ClinVar: 10577
TCGA: ENSG00000119655
COSMIC: NPC2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33422548 | 2021 | Niemann Pick C2 protein enables cholesterol transfer from endo-lysosomes to the plasma membrane for efflux by shedding of extracellular vesicles. | 8 |
| 33723331 | 2021 | Increase in plasma Niemann-Pick disease type C2 protein is associated with poor prognosis of sepsis. | 1 |
| 33990640 | 2021 | Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. | 2 |
| 34420959 | 2021 | Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition. | 3 |
| 34445279 | 2021 | Secretory NPC2 Protein-Mediated Free Cholesterol Levels Were Correlated with the Sorafenib Response in Hepatocellular Carcinoma. | 4 |
| 34685683 | 2021 | Transcriptomic Biomarkers for Tuberculosis: Validation of NPC2 as a Single mRNA Biomarker to Diagnose TB, Predict Disease Progression, and Monitor Treatment Response. | 3 |
| 33422548 | 2021 | Niemann Pick C2 protein enables cholesterol transfer from endo-lysosomes to the plasma membrane for efflux by shedding of extracellular vesicles. | 8 |
| 33723331 | 2021 | Increase in plasma Niemann-Pick disease type C2 protein is associated with poor prognosis of sepsis. | 1 |
| 33990640 | 2021 | Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. | 2 |
| 34420959 | 2021 | Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition. | 3 |
| 34445279 | 2021 | Secretory NPC2 Protein-Mediated Free Cholesterol Levels Were Correlated with the Sorafenib Response in Hepatocellular Carcinoma. | 4 |
| 34685683 | 2021 | Transcriptomic Biomarkers for Tuberculosis: Validation of NPC2 as a Single mRNA Biomarker to Diagnose TB, Predict Disease Progression, and Monitor Treatment Response. | 3 |
| 28865947 | 2020 | New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. | 0 |
| 31521631 | 2020 | Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein. | 5 |
| 32544384 | 2020 | Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. | 59 |
Citation
Dessen P
NPC2 (NPC intracellular cholesterol transporter 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56443/npc2-(npc-intracellular-cholesterol-transporter-2)
