• Gene id: 51020

Gene Summary

• Gene Symbol: HDDC2   Gene   UCSC   Ensembl
• Aliases: C6orf74, CGI-130, NS5ATP2, dJ167O5.2
• Gene name: HD domain containing 2
• Alternate names: 5'-deoxynucleotidase HDDC2, HD domain-containing protein 2, HCV NS5A-transactivated protein 2, hepatitis C virus NS5A-transactivated protein 2, testicular tissue protein Li 83,
• Gene location: 6q22.31 (125302065: 125275349)     Exons: 8     NC_000006.12

Protein Summary

• Protein general information: Q7Z4H3  
  • Name: 5' deoxynucleotidase HDDC2 (EC 3.1.3.89) (HD domain containing protein 2) (Hepatitis C virus NS5A transactivated protein 2) (HCV NS5A transactivated protein 2)
  • Length: 204  
  • Mass: 23390
• Sequence:

  MASVSSATFSGHGARSLLQFLRLVGQLKRVPRTGWVYRNVQRPESVSDHMYRMAVMAMVIKDDRLNKDRCVRLAL
  VHDMAECIVGDIAPADNIPKEEKHRREEEAMKQITQLLPEDLRKELYELWEEYETQSSAEAKFVKQLDQCEMILQ
  ASEYEDLEHKPGRLQDFYDSTAGKFNHPEIVQLVSELEAERSTNIAAAASEPHS

• Structural information:
  • Protein Domains: (46..14-)
    (/note="HD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01175"-)
  • Interpro: IPR003607  IPR006674  IPR039356  
  • Prosite: PS51831
  • PDB: 4DMB 4L1J 4L7E 4L7W
  • PDBsum: 4DMB 4L1J 4L7E 4L7W
  • STRING: ENSP00000381220
• Other Databases: GeneCards:  HDDC2  Malacards:  HDDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0002953	5'-deoxynucleotidase activity	IBA	molecular function
GO:0002953	5'-deoxynucleotidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	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:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process

Diseases

Associated diseases	References
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)