• Gene id: 140733

Gene Summary

• Gene Symbol: MACROD2   Gene   UCSC   Ensembl
• Aliases: C20orf133, C2orf133
• Gene name: mono-ADP ribosylhydrolase 2
• Alternate names: ADP-ribose glycohydrolase MACROD2, MACRO domain containing 2, MACRO domain-containing protein 2, O-acetyl-ADP-ribose deacetylase MACROD2, [Protein ADP-ribosylaspartate] hydrolase MACROD2, [Protein ADP-ribosylglutamate] hydrolase, [Protein ADP-ribosylglutamate] ,
• Gene location: 20p12.1 (13995515: 16053196)     Exons: 21     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]
• OMIM: 611567

Protein Summary

• Protein general information: A1Z1Q3  
  • Name: ADP ribose glycohydrolase MACROD2 (MACRO domain containing protein 2) (O acetyl ADP ribose deacetylase MACROD2) (EC 3.5.1. ) ([Protein ADP ribosylaspartate] hydrolase MACROD2) (EC 3.2.2. ) ([Protein ADP ribosylglutamate] hydrolase MACROD2) (EC 3.2.2. )
  • Length: 425  
  • Mass: 47421
• Sequence:

  MYPSNKKKKVWREEKERLLKMTLEERRKEYLRDYIPLNSILSWKEEMKGKGQNDEENTQETSQVKKSLTEKVSLY
  RGDITLLEVDAIVNAANASLLGGGGVDGCIHRAAGPCLLAECRNLNGCDTGHAKITCGYDLPAKYVIHTVGPIAR
  GHINGSHKEDLANCYKSSLKLVKENNIRSVAFPCISTGIYGFPNEPAAVIALNTIKEWLAKNHHEVDRIIFCVFL
  EVDFKIYKKKMNEFFSVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCK
  DEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQEDAVIVEQPEVIPLTE
  DQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDAGAQDEAKEQRNGTK

• Structural information:
  • Protein Domains: (59..24-)
    (/note="Macro-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00490"-)
  • Interpro: IPR002589  
  • Prosite: PS51154
  • PDB: 4IQY
  • PDBsum: 4IQY
  • STRING: ENSP00000217246
• Other Databases: GeneCards:  MACROD2  Malacards:  MACROD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0140291	peptidyl-glutamate ADP-deribosylation	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0019213	deacetylase activity	IBA	molecular function
GO:0042278	purine nucleoside metabolic process	IBA	biological process
GO:0140293	ADP-ribosylglutamate hydrolase activity	IBA	molecular function
GO:0051725	protein de-ADP-ribosylation	IDA	biological process
GO:0042278	purine nucleoside metabolic process	IDA	biological process
GO:0019213	deacetylase activity	IDA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0140291	peptidyl-glutamate ADP-deribosylation	IDA	biological process
GO:0140293	ADP-ribosylglutamate hydrolase activity	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq