C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Niemann-Pick type C2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000021242 Npc2 10090 - 12:84754560-84773112 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000021668 Npc2-201 84754560-84773112 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000021668
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000021668 205.901±90.17 78.124±8.46 34.848±8.02 6.147±3.35 141.620±47.89 91.812±8.01 18.175±4.00 57.997±4.47 24.941±5.08 340.164±91.13 7.844±1.00 88.566±22.83 58.010±25.75 16.851±10.05

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005BB CIL_0005BB_0002 CGP 12:84677278-84773112
CIL_0002T3 CIL_0002T3_0003 CGP 12:84754560-84775089

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0005764 ISS lysosome
GO:0005783 IEA endoplasmic reticulum
GO:0008203 IEA cholesterol metabolic process
GO:0009615 IEA response to virus
GO:0015485 ISS cholesterol binding
GO:0019899 IEA enzyme binding
GO:0030301 ISS cholesterol transport
GO:0032366 ISS intracellular sterol transport
GO:0032367 IMP intracellular cholesterol transport
GO:0033344 IMP cholesterol efflux
GO:0042632 ISS cholesterol homeostasis
GO:0070062 IEA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000090912 npc2 Niemann-Pick disease, type C2 protein_coding Danio_rerio
ENSDARG00000096979 NPC2 (2 of 2) Niemann-Pick disease, type C2 protein_coding Danio_rerio
ENSG00000119655 NPC2 Niemann-Pick disease, type C2 protein_coding Homo_sapiens

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