NPC2

GENE INFORMATION

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Gene name

NPC2 (HGNC Symbol)

Synonyms

EDDM1, HE1, NP-C2

Description

Niemann-Pick disease, type C2 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

Chromosome

14 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

74942895 - 74960880

Ensembl

ENSG00000119655 (version 73.37)

Entrez gene

10577

UniProt

P61916 (UniProt - Evidence at protein level)

neXtProt

NX_P61916

Antibodypedia

NPC2 antibodies
 

PROTEIN VIEW

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NPC2-001
 
NPC2-002
 
NPC2-003
 
NPC2-004
 
NPC2-005
 
NPC2-006
 
NPC2-007
 
NPC2-008
 
NPC2-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPC2-001 ENSP00000451112
ENST00000555619
P61916
Show all »
Show » Show » 151 16.6 Yes 0
NPC2-002 ENSP00000442488
ENST00000541064
B4DQV7
Show all »
Show » 125 13.4 Yes 0
NPC2-003 ENSP00000412103
ENST00000434013
E7EMS2
Show all »
Show » 201 22.4 Yes 0
NPC2-004 ENSP00000450502
ENST00000556009
173 19.1 No 0
NPC2-005 ENSP00000450887
ENST00000555592
G3V2V8
Show all »
Show » 122 13.1 Yes 0
NPC2-006 ENSP00000451180
ENST00000553490
G3V3D1
Show all »
Show » 221 23.7 Yes 0
NPC2-007 ENSP00000451206
ENST00000557510
G3V3E8
Show all »
Show » 174 19.2 Yes 0
NPC2-008 ENSP00000238633
ENST00000238633
J3KMY5
Show all »
Show » 148 16.2 Yes 0
NPC2-009 ENSP00000451314
ENST00000554482
H0YJE2
Show all »
53 6 No 0