• Gene id: 91300

Gene Summary

• Gene Symbol: R3HDM4   Gene   UCSC   Ensembl
• Aliases: C19orf22
• Gene name: R3H domain containing 4
• Alternate names: R3H domain-containing protein 4, R3H domain-containing protein C19orf22,
• Gene location: 19p13.3 (913218: 896502)     Exons: 9     NC_000019.10
• OMIM: 604934

Protein Summary

• Protein general information: Q96D70  
  • Name: R3H domain containing protein 4
  • Length: 268  
  • Mass: 30350
• Sequence:

  MVALENPECGPEAAEGTPGGRRLLPLPSCLPALASSQVKRLSASRRKQHFINQAVRNSDLVPKAKGRKSLQRLEN
  TQYLLTLLETDGGLPGLEDGDLAPPASPGIFAEACNNATYVEVWNDFMNRSGEEQERVLRYLEDEGRSKARRRGP
  GRGEDRRREDPAYTPRECFQRISRRLRAVLKRSRIPMETLETWEERLLRFFSVSPQAVYTAMLDNSFERLLLHAV
  CQYMDLISASADLEGKRQMKVSNRHLDFLPPGLLLSAYLEQHS

• Structural information:
  • Protein Domains: (187..25-)
    (/note="R3H-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00382"-)
  • Interpro: IPR025952  IPR001374  IPR036867  IPR039629  
  • Prosite: PS51061
  • STRING: ENSP00000355385
• Other Databases: GeneCards:  R3HDM4  Malacards:  R3HDM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray