• Gene id: 23564

Gene Summary

• Gene Symbol: DDAH2   Gene   UCSC   Ensembl
• Aliases: DDAH, DDAHII, G6a, HEL-S-277, NG30
• Gene name: dimethylarginine dimethylaminohydrolase 2
• Alternate names: N(G),N(G)-dimethylarginine dimethylaminohydrolase 2, S-phase protein, dimethylargininase-2, dimethylarginine dimethylaminohydrolase II, epididymis secretory protein Li 277, testis tissue sperm-binding protein Li 54e,
• Gene location: 6p21.33 (31730262: 31727039)     Exons: 9     NC_000006.12
• Gene summary(Entrez): This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be loc
• OMIM: 604744

Protein Summary

• Protein general information: O95865  
  • Name: N(G),N(G) dimethylarginine dimethylaminohydrolase 2 (DDAH 2) (Dimethylarginine dimethylaminohydrolase 2) (EC 3.5.3.18) (DDAHII) (Dimethylargininase 2) (Protein G6a) (S phase protein)
  • Length: 285  
  • Mass: 29644
  • Tissue specificity: Detected in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas, and at very low levels in brain. {ECO
• Sequence:

  MGTPGEGLGRCSHALIRGVPESLASGEGAGAGLPALDLAKAQREHGVLGGKLRQRLGLQLLELPPEESLPLGPLL
  GDTAVIQGDTALITRPWSPARRPEVDGVRKALQDLGLRIVEIGDENATLDGTDVLFTGREFFVGLSKWTNHRGAE
  IVADTFRDFAVSTVPVSGPSHLRGLCGMGGPRTVVAGSSDAAQKAVRAMAVLTDHPYASLTLPDDAAADCLFLRP
  GLPGVPPFLLHRGGGDLPNSQEALQKLSDVTLVPVSCSELEKAGAGLSSLCLVLSTRPHS

• Structural information:
  • Interpro: IPR033199  IPR033202  
  • STRING: ENSP00000364945
• Other Databases: GeneCards:  DDAH2  Malacards:  DDAH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000052	citrulline metabolic process	IBA	biological process
GO:0006525	arginine metabolic process	IBA	biological process
GO:0016597	amino acid binding	IBA	molecular function
GO:0016403	dimethylargininase activity	IBA	molecular function
GO:0016813	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines	IBA	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	IBA	biological process
GO:0000052	citrulline metabolic process	IDA	biological process
GO:0016403	dimethylargininase activity	IDA	molecular function
GO:0000052	citrulline metabolic process	IEA	biological process
GO:0006527	arginine catabolic process	IEA	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0006527	arginine catabolic process	TAS	biological process
GO:0006809	nitric oxide biosynthetic process	TAS	biological process
GO:0007263	nitric oxide mediated signal transduction	TAS	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
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:0016597	amino acid binding	IEA	molecular function
GO:0006525	arginine metabolic process	IEA	biological process
GO:0016403	dimethylargininase activity	IEA	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043066	negative regulation of apoptotic process	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray