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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Niemann-Pick disease, type C2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000090912 npc2 7955 - 17:43066482-43076615 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000050399 npc2-001 43075104-43076615 protein_coding
  ENSDART00000124663 npc2-201 43066482-43076323 protein_coding
  ENSDART00000132754 npc2-004 43075474-43076550 protein_coding
  ENSDART00000139875 npc2-002 43075321-43076611 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000050399ENSDART00000124663ENSDART00000132754
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000050399 23.961±6.50 46.479±9.51 95.911±20.80 4.359±0.00 14.253±0.00
ENSDART00000124663 N/A 22.188±0.00 N/A N/A N/A
ENSDART00000132754 N/A N/A N/A 2.219±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0002T3 CIL_0002T3_0001 CGP 17:43066482-43081078

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005576 IEA extracellular region
GO:0005783 IEA endoplasmic reticulum
GO:0006629 IEA lipid metabolic process
GO:0008202 IEA steroid metabolic process
GO:0008203 IEA cholesterol metabolic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000119655 NPC2 Niemann-Pick disease, type C2 protein_coding Homo_sapiens
ENSMUSG00000021242 Npc2 Niemann-Pick type C2 protein_coding Mus_musculus

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