Human (GRCh38.p14)
Description

NPC intracellular cholesterol transporter 2 [Source:HGNC Symbol;Acc:HGNC:14537]

Gene Synonyms

EDDM1, HE1, NP-C2

Location

Chromosome 14: 74,476,192-74,494,177 reverse strand.

GRCh38:CM000676.2

About this gene

This gene has 9 transcripts (splice variants), 215 orthologues and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000555619.6NPC2-207821151aaENSP00000451112.2
 
Protein coding
CCDS32121P61916-1 NM_006432.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P4TSL:1
ENST00000541064.5NPC2-2031436125aaENSP00000442488.1
 
Protein coding
CCDS91904P61916-2 -GENCODE basicTSL:2
ENST00000557510.5NPC2-2091029174aaENSP00000451206.1
 
Protein coding
CCDS86413G3V3E8 -GENCODE basicTSL:1
ENST00000434013.6NPC2-202875201aaENSP00000412103.2
 
Protein coding
E7EMS2 -GENCODE basicTSL:2
ENST00000238633.6NPC2-201796148aaENSP00000238633.2
 
Protein coding
J3KMY5 -GENCODE basicAPPRIS ALT1TSL:3
ENST00000553490.5NPC2-204729221aaENSP00000451180.1
 
Protein coding
G3V3D1 -TSL:2CDS 3' incomplete
ENST00000556009.5NPC2-208699173aaENSP00000450502.1
 
Protein coding
H0YIZ1 -TSL:5CDS 5' incomplete
ENST00000555592.1NPC2-206469122aaENSP00000450887.1
 
Protein coding
G3V2V8 -TSL:5CDS 3' incomplete
ENST00000554482.1NPC2-20558353aaENSP00000451314.1
 
Nonsense mediated decay
H0YJE2 -TSL:2CDS 5' incomplete