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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Niemann-Pick disease, type C2
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000555619 NPC2-001 ENSG00000119655 9606 - 14:74479933-74493512 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000555619
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000555619 66.870±0.00 41.299±0.00 21.290±0.00 6.501±0.00 24.978±16.66 7.096±6.25 23.540±15.85 8.763±0.00 15.255±0.00 6.325±4.60 110.447±84.95 169.573±13.30 75.716±0.28

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005BB CIL_0005BB_0001 CGP 14:74405893-74494177
CIL_0002T3 CIL_0002T3_0002 CGP 14:74476192-74497106

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005764 IDA lysosome
GO:0005783 IEA endoplasmic reticulum
GO:0008203 IEA cholesterol metabolic process
GO:0009615 IEP response to virus
GO:0015485 IDA cholesterol binding
GO:0015914 TAS phospholipid transport
GO:0019747 TAS regulation of isoprenoid metabolic process
GO:0019899 IPI enzyme binding
GO:0030301 IDA cholesterol transport
GO:0032366 IDA intracellular sterol transport
GO:0032367 IDA intracellular cholesterol transport
GO:0033344 IDA cholesterol efflux
GO:0042632 IDA cholesterol homeostasis
GO:0046836 TAS glycolipid transport
GO:0070062 IDA extracellular vesicular exosome

Homologs

No Homologs available.

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