• Gene id: 389524

Gene Summary

• Gene Symbol: GTF2IRD2B   Gene   UCSC   Ensembl
• Aliases: GTF2IRD2, GTF2IRD2A
• Gene name: GTF2I repeat domain containing 2B
• Alternate names: general transcription factor II-I repeat domain-containing protein 2B, GTF2I repeat domain-containing protein 2A, GTF2I repeat domain-containing protein 2B, GTF2IRD2 beta, General transcription factor II-I repeat domain-containing protein 2A, Transcription fac,
• Gene location: 7q11.23 (75092555: 75149816)     Exons: 17     NC_000007.14
• Gene summary(Entrez): This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BE

Protein Summary

• Protein general information: Q6EKJ0  
  • Name: General transcription factor II I repeat domain containing protein 2B (GTF2I repeat domain containing protein 2B) (Transcription factor GTF2IRD2 beta)
  • Length: 949  
  • Mass: 107233
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEVACIAVYETDVFVVGTERGCAFVNARTDFQKD
  FAKYCVAEGLCEVKPPCPVNGMQVHSGETEILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQSAVVVQGLPE
  GVAFQHPENYDLATLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESCGPINVKTEPMEDSGI
  SLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPSEEPNEDPEAEVKIEGNTNSSSVTN
  SAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLFSRKFGEAIGVDFPVKVPYRKITFNPGCVVIDGMPP
  GVVFKAPGYLEISSMRRILEAAEFIKFTVIRPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLIC
  KQSMSVSKEYNLRRHYQTNHSKHYDQYTERMRDEKLHELKKGLRKYLLGSSDTECPEQKQVFANPSPTQKSPVQP
  VEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIFIRGVDENFDVSEELLDTVPMTGTKSGNEIFLRVE
  KSLKKFCINWSRLVSVASTGTPAMVDANNGLVTKLKSRVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVV
  KSVNWICSRGLNHSEFTTLLYELDSQYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWI
  RDLAFLVDMTMHLNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKLVSRNESDGLNYIPK
  IAELKTEFQKRLSDFKLYESELTLFSSPFSTKIDSVHEELQMEVIDLQCNTVLKTKYDKVGIPEFYKYLWGSYPK
  YKHHCAKILSMFGSTYICEQLFSIMKLSKTKYCSQLKDSQWDSVLHIAT

• Structural information:
  • Interpro: IPR004212  IPR036647  IPR042224  IPR012337  
  • Prosite: PS51139
  • PDB: 2E3L
  • PDBsum: 2E3L
  • STRING: ENSP00000480524
• Other Databases: GeneCards:  GTF2IRD2B  Malacards:  GTF2IRD2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0014883	transition between fast and slow fiber	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray