• Gene id: 359948

Gene Summary

• Gene Symbol: IRF2BP2   Gene   UCSC   Ensembl
• Aliases: CVID14
• Gene name: interferon regulatory factor 2 binding protein 2
• Alternate names: interferon regulatory factor 2-binding protein 2, IRF-2-binding protein 2,
• Gene location: 1q42.3 (234609524: 234604268)     Exons: 2     NC_000001.11
• Gene summary(Entrez): This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by
• OMIM: 615332

Protein Summary

• Protein general information: Q7Z5L9  
  • Name: Interferon regulatory factor 2 binding protein 2 (IRF 2 binding protein 2) (IRF 2BP2)
  • Length: 587  
  • Mass: 61025
• Sequence:

  MAAAVAVAAASRRQSCYLCDLPRMPWAMIWDFTEPVCRGCVNYEGADRVEFVIETARQLKRAHGCFPEGRSPPGA
  AASAAAKPPPLSAKDILLQQQQQLGHGGPEAAPRAPQALERYPLAAAAERPPRLGSDFGSSRPAASLAQPPTPQP
  PPVNGILVPNGFSKLEEPPELNRQSPNPRRGHAVPPTLVPLMNGSATPLPTALGLGGRAAASLAAVSGTAAASLG
  SAQPTDLGAHKRPASVSSSAAVEHEQREAAAKEKQPPPPAHRGPADSLSTAAGAAELSAEGAGKSRGSGEQDWVN
  RPKTVRDTLLALHQHGHSGPFESKFKKEPALTAGRLLGFEANGANGSKAVARTARKRKPSPEPEGEVGPPKINGE
  AQPWLSTSTEGLKIPMTPTSSFVSPPPPTASPHSNRTTPPEAAQNGQSPMAALILVADNAGGSHASKDANQVHST
  TRRNSNSPPSPSSMNQRRLGPREVGGQGAGNTGGLEPVHPASLPDSSLATSAPLCCTLCHERLEDTHFVQCPSVP
  SHKFCFPCSRQSIKQQGASGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDS

• Structural information:
  • Interpro: IPR022750  
  • STRING: ENSP00000355568
• Other Databases: GeneCards:  IRF2BP2  Malacards:  IRF2BP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0002327	immature B cell differentiation	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Common variable immunodeficiency	KEGG:H00088
Common variable immunodeficiency	KEGG:H00088
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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