• Gene id: 65094

Gene Summary

• Gene Symbol: JMJD4   Gene   UCSC   Ensembl
• Gene name: jumonji domain containing 4
• Alternate names: 2-oxoglutarate and iron-dependent oxygenase JMJD4, 2-oxoglutarate- and Fe(II)-dependent oxygenase, C4 lysyl hydroxylase, jmjC domain-containing protein 4, jumonji domain-containing protein 4, lysyl-hydroxylase JMJD4,
• Gene location: 1q42.13 (227735498: 227731188)     Exons: 6     NC_000001.11

Protein Summary

• Protein general information: Q9H9V9  
  • Name: 2 oxoglutarate and iron dependent oxygenase JMJD4 (EC 1.14.11. ) (JmjC domain containing protein 4) (Jumonji domain containing protein 4) (Lysyl hydroxylase JMJD4)
  • Length: 463  
  • Mass: 52493
• Sequence:

  MRAGPEPQALAGQKRGALRLLVPRLVLTVSAPAEVRRRVLRPVLSWMDRETRALADSHFRGLGVDVPGVGQAPGR
  VAFVSEPGAFSYADFVRGFLLPNLPCVFSSAFTQGWGSRRRWVTPAGRPDFDHLLRTYGDVVVPVANCGVQEYNS
  NPKEHMTLRDYITYWKEYIQAGYSSPRGCLYLKDWHLCRDFPVEDVFTLPVYFSSDWLNEFWDALDVDDYRFVYA
  GPAGSWSPFHADIFRSFSWSVNVCGRKKWLLFPPGQEEALRDRHGNLPYDVTSPALCDTHLHPRNQLAGPPLEIT
  QEAGEMVFVPSGWHHQVHNLDDTISINHNWVNGFNLANMWRFLQQELCAVQEEVSEWRDSMPDWHHHCQVIMRSC
  SGINFEEFYHFLKVIAEKRLLVLREAAAEDGAGLGFEQAAFDVGRITEVLASLVAHPDFQRVDTSAFSPQPKELL
  QQLREAVDAAAAP

• Structural information:
  • Protein Domains: (188..34-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR003347  
  • Prosite: PS51184
  • STRING: ENSP00000355720
• Other Databases: GeneCards:  JMJD4  Malacards:  JMJD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0045905	positive regulation of translational termination	IMP	biological process
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IMP	molecular function
GO:0018126	protein hydroxylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq