Cell atlas - NPC2 - The Human Protein Atlas

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NPC2

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TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
Summary
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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 83.38)
Entrez gene	10577
UniProt	P61916 (UniProt - Evidence at protein level)
neXtProt	NX_P61916
Antibodypedia	NPC2 antibodies

PROTEIN BROWSER

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

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NPC2-001 ENSP00000451112 ENST00000555619	P61916 [Direct mapping] Epididymal secretory protein E1 A0A024R6C0 [Target identity:100%; Query identity:100%] Niemann-Pick disease, type C2, isoform CRA_a Show all	Transporters Electrochemical Potential-driven transporters MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005764 [lysosome] GO:0005783 [endoplasmic reticulum] GO:0008203 [cholesterol metabolic process] GO:0009615 [response to virus] GO:0015485 [cholesterol binding] GO:0015914 [phospholipid transport] GO:0019747 [regulation of isoprenoid metabolic process] GO:0019899 [enzyme binding] GO:0030301 [cholesterol transport] GO:0032366 [intracellular sterol transport] GO:0032367 [intracellular cholesterol transport] GO:0033344 [cholesterol efflux] GO:0042632 [cholesterol homeostasis] GO:0046836 [glycolipid transport] GO:0070062 [extracellular exosome] Show all	151 aa 16.6 kDa	Yes	0
NPC2-002 ENSP00000442488 ENST00000541064	P61916 [Direct mapping] Epididymal secretory protein E1 Show all	Transporters Electrochemical Potential-driven transporters MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005764 [lysosome] GO:0005783 [endoplasmic reticulum] GO:0008203 [cholesterol metabolic process] GO:0009615 [response to virus] GO:0015485 [cholesterol binding] GO:0015914 [phospholipid transport] GO:0019747 [regulation of isoprenoid metabolic process] GO:0019899 [enzyme binding] GO:0030301 [cholesterol transport] GO:0032366 [intracellular sterol transport] GO:0032367 [intracellular cholesterol transport] GO:0033344 [cholesterol efflux] GO:0042632 [cholesterol homeostasis] GO:0046836 [glycolipid transport] GO:0070062 [extracellular exosome] Show all	125 aa 13.4 kDa	Yes	0
NPC2-003 ENSP00000412103 ENST00000434013	E7EMS2 [Direct mapping] Epididymal secretory protein E1 Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		201 aa 22.4 kDa	Yes	0
NPC2-004 ENSP00000450502 ENST00000556009	H0YIZ1 [Direct mapping] Epididymal secretory protein E1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		173 aa 19.1 kDa	No	0
NPC2-005 ENSP00000450887 ENST00000555592	G3V2V8 [Direct mapping] Epididymal secretory protein E1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		122 aa 13.1 kDa	Yes	0
NPC2-006 ENSP00000451180 ENST00000553490	G3V3D1 [Direct mapping] Epididymal secretory protein E1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		221 aa 23.7 kDa	Yes	0
NPC2-007 ENSP00000451206 ENST00000557510	G3V3E8 [Direct mapping] Epididymal secretory protein E1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		174 aa 19.2 kDa	Yes	0
NPC2-008 ENSP00000238633 ENST00000238633	J3KMY5 [Direct mapping] Epididymal secretory protein E1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		148 aa 16.2 kDa	Yes	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.