• Gene id: 10577

Gene Summary

• Gene Symbol: NPC2   Gene   UCSC   Ensembl
• Aliases: EDDM1, HE1
• Gene name: NPC intracellular cholesterol transporter 2
• Alternate names: NPC intracellular cholesterol transporter 2, Niemann-Pick disease type C2 protein, epididymal protein 1, human epididymis-specific protein 1, tissue-specific secretory protein,
• Gene location: 14q24.3 (74493380: 74479939)     Exons: 5     NC_000014.9
• Gene summary(Entrez): 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 disea
• OMIM: 601015

Protein Summary

• Protein general information: P61916  
  • Name: NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1) (Human epididymis specific protein 1) (He1) (Niemann Pick disease type C2 protein)
  • Length: 151  
  • Mass: 16,570
• Sequence:

  MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVH
  GILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSH
  L

• Structural information:
  • Interpro: IPR014756  IPR003172  IPR033916  
  • CDD: cd00916
  • PDB: 5KWY
  • PDBsum: 5KWY
  • STRING: ENSP00000451112
• Other Databases: GeneCards:  NPC2  Malacards:  NPC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0009615	response to virus	IEP	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0015914	phospholipid transport	TAS	biological process
GO:0019747	regulation of isoprenoid metabolic process	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0030301	cholesterol transport	IDA	biological process
GO:0030301	cholesterol transport	IDA	biological process
GO:0032366	intracellular sterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IGI	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0046836	glycolipid transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0009615	response to virus	IEP	biological process
GO:0015485	cholesterol binding	IEA	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0015914	phospholipid transport	TAS	biological process
GO:0019747	regulation of isoprenoid metabolic process	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0030301	cholesterol transport	IEA	biological process
GO:0030301	cholesterol transport	IDA	biological process
GO:0030301	cholesterol transport	IDA	biological process
GO:0032366	intracellular sterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IEA	biological process
GO:0032367	intracellular cholesterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IGI	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0046836	glycolipid transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0009615	response to virus	IEP	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0015914	phospholipid transport	TAS	biological process
GO:0019747	regulation of isoprenoid metabolic process	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0030301	cholesterol transport	IDA	biological process
GO:0030301	cholesterol transport	IDA	biological process
GO:0032366	intracellular sterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IDA	biological process
GO:0032367	intracellular cholesterol transport	IGI	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0046836	glycolipid transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Cancer (lymphoma)	GAD: 18636124
Niemann-pick disease	OMIM: 601015
Alzheimer's disease	GAD: 17387528
Chronic renal failure	GAD: 21085059
Oligoasthenozoospermia	MIK: 25729253
Male factor infertility	MIK: 25779018
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Oligoasthenozoospermia	MIK: 25779018
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25779018	Oligoasthenozoospermia			20 (10 men with normozoospermia, 10 men with idiopathic oligoasthenozoospermia)	Male infertility
25729253	idiopathic oligoasthenozoospermia			20 (10 men with normozoospermia, 10 men with idiopathic oligoasthenozoospermia)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray