ANGIOGENES: A knowledge database for angiogenesis

Institute of Cardiovascular Regeneration, Goethe University Frankfurt

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'; BECsHAoECHHSECHMVEC-DHUVECENST00000238633ENST00000541064ENST00000553490ENST00000554482ENST00000555592ENST00000555619ENST00000556009
Transcript ID BECs HAoEC HHSEC HMVEC-D HUVEC
ENST00000238633 258.853±1.27 145.602±41.83 158.884±0.00 106.635±0.00 92.412±72.40
ENST00000541064 N/A N/A N/A N/A 0.252±0.00
ENST00000553490 93.454±0.00 N/A N/A N/A 33.030±27.39
ENST00000554482 272.040±59.75 87.977±20.34 350.914±0.00 76.531±0.00 129.516±87.26
ENST00000555592 N/A 133.647±56.31 N/A 90.029±0.00 136.262±88.01
ENST00000555619 N/A 14.741±3.10 N/A N/A 60.581±35.81
ENST00000556009 N/A N/A N/A 39.937±0.00 62.343±11.16

Conserved Regions

Region IDSub-RegionRegion Type
CIL_0005BB CIL_0005BB_0001 CGP
CIL_0002T3 CIL_0002T3_0002 CGP

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 protein_coding Danio_rerio
ENSDARG00000096979 NPC2 (2 of 2) protein_coding Danio_rerio
ENSMUSG00000021242 Npc2 protein_coding Mus_musculus

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