CBFA2T3
Protein CBFA2T3
Also known as: ETO2, MTG16, MTG16_HUMAN, MTGR2, RUNX1T3, ZMYND4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75081
- Gene
- CBFA2T3
- Ensembl
- ENSG00000129993
- Chromosome
- 16
- Canonical length
- 653 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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 common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
653 residues, UniProt reviewed canonical sequence.
>O75081|CBFA2T3
1 MPASRLRDRA ASSASGSTCG SMSQTHPVLE SGLLASAGCS APRGPRKGGP APVDRKAKAS
61 AMPDSPAEVK TQPRSTPPSM PPPPPAASQG ATRPPSFTPH THREDGPATL PHGRFHGCLK
121 WSMVCLLMNG SSHSPTAING APCTPNGFSN GPATSSTASL STQHLPPACG ARQLSKLKRF
181 LTTLQQFGSD ISPEIGERVR TLVLGLVNST LTIEEFHSKL QEATNFPLRP FVIPFLKANL
241 PLLQRELLHC ARLAKQTPAQ YLAQHEQLLL DASASSPIDS SELLLEVNEN GKRRTPDRTK
301 ENGSDRDPLH PEHLSKRPCT LNPAQRYSPS NGPPQPTPPP HYRLEDIAMA HHFRDAYRHP
361 DPRELRERHR PLVVPGSRQE EVIDHKLTER EWAEEWKHLN NLLNCIMDMV EKTRRSLTVL
421 RRCQEADREE LNHWARRYSD AEDTKKGPAP AAARPRSSSA GPEGPQLDVP REFLPRTLTG
481 YVPEDIWRKA EEAVNEVKRQ AMSELQKAVS DAERKAHELI TTERAKMERA LAEAKRQASE
541 DALTVINQQE DSSESCWNCG RKASETCSGC NAARYCGSFC QHRDWEKHHH VCGQSLQGPT
601 AVVADPVPGP PEAAHSLGPS LPVGAASPSE AGSAGPSRPG SPSPPGPLDT VPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CBFA2T3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 37 nTPM
- thymus: 27 nTPM
- pancreas: 26 nTPM
- spleen: 17 nTPM
- heart muscle: 16 nTPM
- skeletal muscle: 13 nTPM
Single-cell type
- megakaryocyte-erythroid progenitors: 205 nCPM
- pdcs: 166 nCPM
- megakaryocyte progenitors: 137 nCPM
- hematopoietic stem cells: 100 nCPM
- cdc: 100 nCPM
- thymocytes: 74 nCPM
Immune cell
- plasmacytoid DC: 11 nTPM
- myeloid DC: 6.6 nTPM
- non-classical monocyte: 4.9 nTPM
- neutrophil: 3.4 nTPM
- memory B-cell: 3.1 nTPM
- intermediate monocyte: 2.8 nTPM
Brain region
- cerebellum: 102 nTPM
- cerebral cortex: 44 nTPM
- basal ganglia: 36 nTPM
- hippocampal formation: 35 nTPM
- amygdala: 33 nTPM
- white matter: 28 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.5
- gnomAD pLI
- 0.05
- gnomAD missense Z
- 0.16
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA-templated transcription
- granulocyte differentiation
- negative regulation of cell population proliferation
- negative regulation of DNA-templated transcription
- negative regulation of glycolytic process
- negative regulation of transcription by RNA polymerase II
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- regulation of aerobic respiration
- response to hypoxia
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CBFA2T3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CBFA2T3 as an antibody target. Whether an autoantibody or antibody against CBFA2T3 could matter depends on whether native CBFA2T3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CBFA2T3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CBFA2T3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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