• Gene id: 863

Gene Summary

• Gene Symbol: CBFA2T3   Gene   UCSC   Ensembl
• Aliases: ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4
• Gene name: CBFA2/RUNX1 partner transcriptional co-repressor 3
• Alternate names: protein CBFA2T3, CBFA2/RUNX1 translocation partner 3, MTG8-related gene 2, MTG8-related protein 2, core-binding factor, runt domain, alpha subunit 2; translocated to, 3, myeloid translocation gene 8 and 16b, myeloid translocation gene on chromosome 16 protein, z,
• Gene location: 16q24.3 (88977206: 88874857)     Exons: 14     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less co
• OMIM: 603870

SNPs

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

Protein Summary

• Protein general information: O75081  
  • Name: Protein CBFA2T3 (MTG8 related protein 2) (Myeloid translocation gene on chromosome 16 protein) (hMTG16) (Zinc finger MYND domain containing protein 4)
  • Length: 653  
  • Mass: 71192
  • Tissue specificity: Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level). {ECO
• Sequence:

  MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRS
  TPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSN
  GPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATN
  FPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTK
  ENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVP
  GSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAP
  AAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERA
  KMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPT
  AVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR

• Structural information:
  • Protein Domains: (171..26-)
    (/note="TAFH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00440"-)
  • Interpro: IPR013289  IPR013292  IPR014896  IPR037249  IPR003894   IPR002893  
  • Prosite: PS51119 PS01360 PS50865
  • DIP: 48898
  • STRING: ENSP00000268679
• Other Databases: GeneCards:  CBFA2T3  Malacards:  CBFA2T3

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:0001666	response to hypoxia	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:1903715	regulation of aerobic respiration	IDA	biological process
GO:0045820	negative regulation of glycolytic process	IDA	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	TAS	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: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:0030154	cell differentiation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030851	granulocyte differentiation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	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