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Human (GRCh37.p13)
Description

Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]

Gene Synonyms

EDDM1, HE1, NP-C2

Location

Chromosome 14: 74,942,895-74,960,880 reverse strand.

GRCh37:CM000676.1

About this gene

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

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
NPC2-001ENST00000555619.11035151aaENSP00000451112.1
 
Protein coding
CCDS32121P61916 NM_006432
NP_006423
GENCODE basic
NPC2-002ENST00000541064.11436125aaENSP00000442488.1
 
Protein coding
-B4DQV7 G3V2V8 -GENCODE basic
NPC2-007ENST00000557510.11029174aaENSP00000451206.1
 
Protein coding
-G3V3E8 -GENCODE basic
NPC2-003ENST00000434013.2875201aaENSP00000412103.2
 
Protein coding
-E7EMS2 -GENCODE basic
NPC2-008ENST00000238633.2796148aaENSP00000238633.2
 
Protein coding
-J3KMY5 -GENCODE basic
NPC2-006ENST00000553490.1729221aaENSP00000451180.1
 
Protein coding
-G3V3D1 -CDS 3' incomplete
NPC2-004ENST00000556009.1699173aaENSP00000450502.1
 
Protein coding
---CDS 5' incomplete
NPC2-005ENST00000555592.1469122aaENSP00000450887.1
 
Protein coding
-G3V2V8 -CDS 3' incomplete
NPC2-009ENST00000554482.158353aaENSP00000451314.1
 
Nonsense mediated decay
-H0YJE2 -CDS 5' incomplete

Gene-based displays