• Gene id: 9139

Gene Summary

• Gene Symbol: CBFA2T2   Gene   UCSC   Ensembl
• Aliases: EHT, MTGR1, ZMYND3, p85
• Gene name: CBFA2/RUNX1 partner transcriptional co-repressor 2
• Alternate names: protein CBFA2T2, CBFA2/RUNX1 translocation partner 2, ETO homolog on chromosome 20, ETO homologous on chromosome 20, MTG8-like protein, MTG8-related protein 1, core-binding factor, runt domain, alpha subunit 2; translocated to, 2, myeloid translocation gene-rela,
• Gene location: 20q11.21-q11.22 (33490069: 33650030)     Exons: 18     NC_000020.11
• Gene summary(Entrez): In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-
• OMIM: 601497

Protein Summary

• Protein general information: O43439  
  • Name: Protein CBFA2T2 (ETO homologous on chromosome 20) (MTG8 like protein) (MTG8 related protein 1) (Myeloid translocation related protein 1) (p85)
  • Length: 604  
  • Mass: 67133
  • Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus. {ECO
• Sequence:

  MAKESGISLKEIQVLARQWKVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINH
  SPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVN
  STVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSEL
  LMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIA
  TSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRC
  QESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKI
  QAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIAR
  YCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAID
  TNGL

• Structural information:
  • Protein Domains: (113..20-)
    (/note="TAFH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00440"-)
  • Interpro: IPR013289  IPR013291  IPR014896  IPR037249  IPR003894   IPR002893  
  • Prosite: PS51119 PS01360 PS50865
  • DIP: 38274
  • STRING: ENSP00000262653
• Other Databases: GeneCards:  CBFA2T2  Malacards:  CBFA2T2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0010976	positive regulation of neuron projection development	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0010977	negative regulation of neuron projection development	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060575	intestinal epithelial cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

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