NPC2 (NPC intracellular cholesterol transporter 2)

2016-10-01  

Identity

HGNC
NPC2
LOCATION
14q24.3
LOCUSID
10577
ALIAS
EDDM1,HE1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10577
MIM: 601015
HGNC: 14537
Ensembl: ENSG00000119655

Variants:

dbSNP: 10577
ClinVar: 10577
TCGA: ENSG00000119655
COSMIC: NPC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119655ENST00000238633J3KMY5
ENSG00000119655ENST00000434013E7EMS2
ENSG00000119655ENST00000541064P61916
ENSG00000119655ENST00000553490G3V3D1
ENSG00000119655ENST00000554482H0YJE2
ENSG00000119655ENST00000555592G3V2V8
ENSG00000119655ENST00000555619P61916
ENSG00000119655ENST00000555619A0A024R6C0
ENSG00000119655ENST00000556009H0YIZ1
ENSG00000119655ENST00000557510G3V3E8

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
LDL-mediated lipid transportREACTOMER-HSA-171052
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206748612010Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes.76
166066092006Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport.71
257642122016High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.65
125919492007Bile acids and their signaling pathways: eclectic regulators of diverse cellular functions.63
127194282003NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.62
275510802016Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2.50
115672152001Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.37
273395542016Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.37
188231262008Regulation of sterol transport between membranes and NPC2.33

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