NPC2

GENERAL INFORMATION

? »

Gene name

NPC2

Gene description

Niemann-Pick disease, type C2

Protein class

Disease related genes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins
Transporters

Predicted localization

Intracellular,Secreted

Number of transcripts

8
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Male genitalia, decidual cells, fallopian tube, liver, kidney tubuli, adrenal cortex exocrine pancreas, lymphoid tissues, tubuli cells showed moderate to strong granular cytoplasmic positivity. Remaining normal cells were generally negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA000835
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Epididymis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

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

Cytoband

q24.3

Chromosome location (bp)

74476192 - 74494177

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000119655 (version 78.38)

Entrez gene

10577

UniProt

P61916 (UniProt - Evidence at protein level)

neXtProt

NX_P61916

Antibodypedia

NPC2 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000238633
 
ENST00000434013
 
ENST00000541064
 
ENST00000553490
 
ENST00000555592
 
ENST00000555619
 
ENST00000556009
 
ENST00000557510
 
 
 
 


PROTEIN INFORMATION

? »

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
P61916
Show all »
Show » Show » 125 13.4 Yes 0
NPC2-003 ENSP00000412103
ENST00000434013
E7EMS2
Show all »
Show » 201 22.4 Yes 0
NPC2-004 ENSP00000450502
ENST00000556009
Show » 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