• Gene id: 22978

Gene Summary

• Gene Symbol: NT5C2   Gene   UCSC   Ensembl
• Aliases: GMP, NT5B, PNT5, SPG45, SPG65, cN-II
• Gene name: 5'-nucleotidase, cytosolic II
• Alternate names: cytosolic purine 5'-nucleotidase, 5'-nucleotidase (purine), cytosolic type B, IMP-specific 5'-NT, epididymis secretory sperm binding protein, spastic paraplegia 45 (autosomal recessive),
• Gene location: 10q24.32-q24.33 (103193305: 103088016)     Exons: 27     NC_000010.11
• Gene summary(Entrez): This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
• OMIM: 612792

Protein Summary

• Protein general information: P49902  
  • Name: Cytosolic purine 5' nucleotidase (EC 3.1.3.5) (Cytosolic 5' nucleotidase II)
  • Length: 561  
  • Mass: 64970
• Sequence:

  MSTSWSDRLQNAADMPANMDKHALKKYRREAYHRVFVNRSLAMEKIKCFGFDMDYTLAVYKSPEYESLGFELTVE
  RLVSIGYPQELLSFAYDSTFPTRGLVFDTLYGNLLKVDAYGNLLVCAHGFNFIRGPETREQYPNKFIQRDDTERF
  YILNTLFNLPETYLLACLVDFFTNCPRYTSCETGFKDGDLFMSYRSMFQDVRDAVDWVHYKGSLKEKTVENLEKY
  VVKDGKLPLLLSRMKEVGKVFLATNSDYKYTDKIMTYLFDFPHGPKPGSSHRPWQSYFDLILVDARKPLFFGEGT
  VLRQVDTKTGKLKIGTYTGPLQHGIVYSGGSSDTICDLLGAKGKDILYIGDHIFGDILKSKKRQGWRTFLVIPEL
  AQELHVWTDKSSLFEELQSLDIFLAELYKHLDSSSNERPDISSIQRRIKKVTHDMDMCYGMMGSLFRSGSRQTLF
  ASQVMRYADLYAASFINLLYYPFSYLFRAAHVLMPHESTVEHTHVDINEMESPLATRNRTSVDFKDTDYKRHQLT
  RSISEIKPPNLFPLAPQEITHCHDEDDDEEEEEEEE

• Structural information:
  • Interpro: IPR036412  IPR008380  IPR023214  IPR016695  
  • PDB: 2J2C 2JC9 2JCM 2XCV 2XCW 2XCX 2XJB 2XJC 2XJD 2XJE 2XJF 4H4B 5CQZ 5CR7 5K7Y 5L4Z 5L50 5OPK 5OPL 5OPM 5OPN 5OPO 5OPP 6DD3 6DDB 6DDC 6DDH 6DDK 6DDL 6DDO 6DDQ 6DDX 6DDY 6DDZ 6DE0 6DE1 6DE2 6DE3 6FIR 6FIS 6FIU 6FIW 6FXH
  • PDBsum: 2J2C 2JC9 2JCM 2XCV 2XCW 2XCX 2XJB 2XJC 2XJD 2XJE 2XJF 4H4B 5CQZ 5CR7 5K7Y 5L4Z 5L50 5OPK 5OPL 5OPM 5OPN 5OPO 5OPP 6DD3 6DDB 6DDC 6DDH 6DDK 6DDL 6DDO 6DDQ 6DDX 6DDY 6DDZ 6DE0 6DE1 6DE2 6DE3 6FIR 6FIS 6FIU 6FIW 6FXH
  • STRING: ENSP00000339479
• Other Databases: GeneCards:  NT5C2  Malacards:  NT5C2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008253	5'-nucleotidase activity	IBA	molecular function
GO:0046040	IMP metabolic process	IBA	biological process
GO:0046085	adenosine metabolic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0008253	5'-nucleotidase activity	TAS	molecular function
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0017144	drug metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0046085	adenosine metabolic process	IEA	biological process
GO:0046040	IMP metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq