• Gene id: 64207

Gene Summary

• Gene Symbol: IRF2BPL   Gene   UCSC   Ensembl
• Aliases: C14orf4, EAP1, NEDAMSS
• Gene name: interferon regulatory factor 2 binding protein like
• Alternate names: probable E3 ubiquitin-protein ligase IRF2BPL, enhanced at puberty 1, enhanced at puberty protein 1,
• Gene location: 14q24.3 (77028707: 77024542)     Exons: 1     NC_000014.9
• Gene summary(Entrez): This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
• OMIM: 611720

Protein Summary

• Protein general information: Q9H1B7  
  • Name: Probable E3 ubiquitin protein ligase IRF2BPL (EC 2.3.2.27) (Enhanced at puberty protein 1) (Interferon regulatory factor 2 binding protein like)
  • Length: 796  
  • Mass: 82659
  • Tissue specificity: Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes. {ECO
• Sequence:

  MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRAHGCFQDGRSPGPPPP
  VGVKTVALSAKEAAAAAAAAAAAAAAAQQQQQQQQQQQQQQQQQQQQQQQQQLNHVDGSSKPAVLAAPSGLERYG
  LSAAAAAAAAAAAAVEQRSRFEYPPPPVSLGSSSHTARLPNGLGGPNGFPKPTPEEGPPELNRQSPNSSSAAASV
  ASRRGTHGGLVTGLPNPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLG
  GTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSESLRNRAEEWASKPKMV
  RDTLLTLAGCTPYEVRFKKDHSLLGRVFAFDAVSKPGMDYELKLFIEYPTGSGNVYSSASGVAKQMYQDCMKDFG
  RGLSSGFKYLEYEKKHGSGDWRLLGDLLPEAVRFFKEGVPGADMLPQPYLDASCPMLPTALVSLSRAPSAPPGTG
  ALPPAAPSGRGAAASLRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPP
  PPLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSPVSPASVPGQRRLASR
  NGDLNLQVAPPPPSAHPGMDQVHPQNIPDSPMANSGPLCCTICHERLEDTHFVQCPSVPSHKFCFPCSRESIKAQ
  GATGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDP

• Structural information:
  • Interpro: IPR022750  
  • PDB: 2B9G 2CS3
  • PDBsum: 2B9G 2CS3
  • STRING: ENSP00000238647
• Other Databases: GeneCards:  IRF2BPL  Malacards:  IRF2BPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046543	development of secondary female sexual characteristics	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007399	nervous system development	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq