• Gene id: 79701

Gene Summary

• Gene Symbol: OGFOD3   Gene   UCSC   Ensembl
• Aliases: C17orf101
• Gene name: 2-oxoglutarate and iron dependent oxygenase domain containing 3
• Alternate names: 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3, PKHD domain-containing transmembrane protein C17orf101,
• Gene location: 17q25.3 (82418636: 82389209)     Exons: 12     NC_000017.11
• OMIM: 0

Protein Summary

• Protein general information: Q6PK18  
  • Name: 2 oxoglutarate and iron dependent oxygenase domain containing protein 3 (EC 1.14.11. )
  • Length: 319  
  • Mass: 35646
• Sequence:

  MAPQRRAATKAPEGNGAAERRNRSSTKKDRAPREVQRLWQRPWLRTAGLGAGFVLTALLLWSSLGADDGVAEVLA
  RRGEVVAGRFIEVPCSEDYDSHRRFEGCTPRKCGRGVTDVVITREEAERIRSVAEKGLSLGGSDGGASILDLHSG
  ALSVGKHFVNLYRYFGDKIQNIFSEEDFRLYREVRQKVQLTIAEAFGISASSLHLTKPTFFSRINSTEARTAHDE
  YWHAHVDKVTYGSFDYTSLLYLSNYLEDFGGGRFMFMEEGANKTVEPRAGRVSFFTSGSENLHRVEKVHWGTRYA
  ITIAFSCNPDHGIEDPAFP

• Structural information:
  • Protein Domains: (207..30-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR039210  IPR005123  IPR006620  
  • Prosite: PS51471
  • STRING: ENSP00000330075
• Other Databases: GeneCards:  OGFOD3  Malacards:  OGFOD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005506	iron ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray