• Gene id: 11107

Gene Summary

• Gene Symbol: PRDM5   Gene   UCSC   Ensembl
• Aliases: BCS2, PFM2
• Gene name: PR/SET domain 5
• Alternate names: PR domain zinc finger protein 5, PR domain 5, PR domain containing 5,
• Gene location: 4q27 (120922865: 120684905)     Exons: 23     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorig

Protein Summary

• Protein general information: Q9NQX1  
  • Name: PR domain zinc finger protein 5 (EC 2.1.1. ) (PR domain containing protein 5)
  • Length: 630  
  • Mass: 73090
  • Tissue specificity: Widely expressed with highest levels in colon and ovary. Tends to be silenced in breast, colorectal, gastric and liver cancer tissues. {ECO
• Sequence:

  MLGMYVPDRFSLKSSRVQDGMGLYTARRVRKGEKFGPFAGEKRMPEDLDENMDYRLMWEVRGSKGEVLYILDATN
  PRHSNWLRFVHEAPSQEQKNLAAIQEGENIFYLAVEDIETDTELLIGYLDSDMEAEEEEQQIMTVIKEGEVENSR
  RQSTAGRKDRLGCKEDYACPQCESSFTSEDILAEHLQTLHQKPTEEKEFKCKNCGKKFPVKQALQRHVLQCTAKS
  SLKESSRSFQCSVCNSSFSSASSFEQHQETCRGDARFVCKADSCGKRLKSKDALKRHQENVHTGDPKKKLICSVC
  NKKCSSASSLQEHRKIHEIFDCQECMKKFISANQLKRHMITHSEKRPYNCEICNKSFKRLDQVGAHKVIHSEDKP
  YKCKLCGKGFAHRNVYKNHKKTHSEERPFQCEECKALFRTPFSLQRHLLIHNSERTFKCHHCDATFKRKDTLNVH
  VQVVHERHKKYRCELCNKAFVTPSVLRSHKKTHTGEKEKICPYCGQKFASSGTLRVHIRSHTGERPYQCPYCEKG
  FSKNDGLKMHIRTHTREKPYKCSECSKAFSQKRGLDEHKRTHTGEKPFQCDVCDLAFSLKKMLIRHKMTHNPNRP
  LAECQFCHKKFTRNDYLKVHMDNIHGVADS

• Structural information:
  • Protein Domains: (8..12-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  IPR036236  IPR013087  IPR017125  
  • Prosite: PS50280 PS00028 PS50157
  • STRING: ENSP00000264808
• Other Databases: GeneCards:  PRDM5  Malacards:  PRDM5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0016575	histone deacetylation	IBA	biological process
GO:0051567	histone H3-K9 methylation	IBA	biological process
GO:0070491	repressing transcription factor binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0022008	neurogenesis	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0070491	repressing transcription factor binding	IDA	molecular function
GO:0051567	histone H3-K9 methylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0016575	histone deacetylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0008168	methyltransferase 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:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Brittle cornea syndrome	KEGG:H01902
Brittle cornea syndrome	KEGG:H01902
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray