• Gene id: 318

Gene Summary

• Gene Symbol: NUDT2   Gene   UCSC   Ensembl
• Aliases: APAH1
• Gene name: nudix hydrolase 2
• Alternate names: bis(5'-nucleosyl)-tetraphosphatase [asymmetrical], Ap4A hydrolase 1, Ap4Aase, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical), diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase, diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase, diade,
• Gene location: 9p13.3 (34329505: 34343712)     Exons: 6     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asym
• OMIM: 602852

SNPs

rs3918242

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.46007337C>T
NC_000020.10   g.44635976C>T
NG_011468.1   g.3430C>T|SEQ=[C/T]|GENE=MMP9

Protein Summary

• Protein general information: P50583  
  • Name: Bis(5' nucleosyl) tetraphosphatase [asymmetrical] (EC 3.6.1.17) (Diadenosine 5',5''' P1,P4 tetraphosphate asymmetrical hydrolase) (Ap4A hydrolase) (Ap4Aase) (Diadenosine tetraphosphatase) (Nucleoside diphosphate linked moiety X motif 2) (Nudix motif 2)
  • Length: 147  
  • Mass: 16829
• Sequence:

  MALRACGLIIFRRCLIPKVDNNAIEFLLLQASDGIHHWTPPKGHVEPGEDDLETALRETQEEAGIEAGQLTIIEG
  FKRELNYVARNKPKTVIYWLAEVKDYDVEIRLSHEHQAYRWLGLEEACQLAQFKEMKAALQEGHQFLCSIEA

• Structural information:
  • Protein Domains: (1..13-)
    (/note="Nudix-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00794"-)
  • Interpro: IPR015797  IPR020084  IPR000086  IPR003565  
  • Prosite: PS51462 PS00893
  • CDD: cd03428
  • PDB: 1XSA 1XSB 1XSC 3U53 4ICK 4IJX
  • PDBsum: 1XSA 1XSB 1XSC 3U53 4ICK 4IJX
  • STRING: ENSP00000368455
• Other Databases: GeneCards:  NUDT2  Malacards:  NUDT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008796	bis(5'-nucleosyl)-tetraphosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008803	bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0004081	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004081	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	TAS	molecular function
GO:0034599	cellular response to oxidative stress	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:0004081	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	ISS	molecular function
GO:0006915	apoptotic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881