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
ENSG00000119655 NPC2 9606 - 14:74476192-74494177 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000238633 NPC2-008 74479942-74493291 protein_coding
  ENST00000434013 NPC2-003 74476192-74493307 protein_coding
  ENST00000541064 NPC2-002 74479223-74493281 protein_coding
  ENST00000553490 NPC2-006 74480082-74493339 protein_coding
  ENST00000554482 NPC2-009 74479942-74493242 nonsense_mediated_decay
  ENST00000555592 NPC2-005 74484411-74493608 protein_coding
  ENST00000555619 NPC2-001 74479933-74493512 protein_coding
  ENST00000556009 NPC2-004 74480096-74494177 protein_coding
  ENST00000557510 NPC2-007 74480187-74493347 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000238633ENST00000553490ENST00000554482ENST00000555592ENST00000555619ENST00000556009
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000238633 70.637±0.00 56.410±0.00 4.131±0.00 10.351±3.80 24.103±16.20 24.569±0.00 13.376±10.15 54.915±0.00 19.934±8.36 92.792±62.76 8.863±0.00 33.330±21.28 72.671±34.87 70.138±14.85
ENST00000553490 N/A N/A N/A N/A N/A N/A N/A N/A 19.283±0.00 N/A N/A N/A N/A N/A
ENST00000554482 N/A 47.164±0.00 N/A 19.771±0.00 53.446±0.00 N/A 1.686±0.00 4.324±0.00 N/A N/A N/A N/A N/A 70.757±0.00
ENST00000555592 N/A N/A 5.696±0.00 N/A 13.413±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000555619 66.870±0.00 41.299±0.00 N/A 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
ENST00000556009 53.223±0.00 45.505±0.00 N/A 21.286±0.00 N/A 51.926±0.00 20.163±0.00 75.831±0.00 28.226±0.00 165.819±0.00 18.366±0.00 N/A N/A 134.210±0.00

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

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
ENSMUSG00000021242 Npc2 Niemann-Pick type C2 protein_coding Mus_musculus

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