Seroatlas · Human Serome Atlas

CBFA2T2

Protein CBFA2T2

Also known as: MTG8R_HUMAN, MTGR1, ZMYND3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O43439
Gene
CBFA2T2
Ensembl
ENSG00000078699
Chromosome
20
Canonical length
604 aa
Protein class
Disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear speckles
Quaternary structure
Homotetramer

OverviewNCBI Gene

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'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

604 residues, UniProt reviewed canonical sequence.

>O43439|CBFA2T2
     1  MAKESGISLK EIQVLARQWK VGPEKRVPAM PGSPVEVKIQ SRSSPPTMPP LPPINPGGPR
    61  PVSFTPTALS NGINHSPPTL NGAPSPPQRF SNGPASSTSS ALTNQQLPAT CGARQLSKLK
   121  RFLTTLQQFG NDISPEIGEK VRTLVLALVN STVTIEEFHC KLQEATNFPL RPFVIPFLKA
   181  NLPLLQRELL HCARAAKQTP SQYLAQHEHL LLNTSIASPA DSSELLMEVH GNGKRPSPER
   241  REENSFDRDT IAPEPPAKRV CTISPAPRHS PALTVPLMNP GGQFHPTPPP LQHYTLEDIA
   301  TSHLYREPNK MLEHREVRDR HHSLGLNGGY QDELVDHRLT EREWADEWKH LDHALNCIME
   361  MVEKTRRSMA VLRRCQESDR EELNYWKRRY NENTELRKTG TELVSRQHSP GSADSLSNDS
   421  QREFNSRPGT GYVPVEFWKK TEEAVNKVKI QAMSEVQKAV AEAEQKAFEV IATERARMEQ
   481  TIADVKRQAA EDAFLVINEQ EESTENCWNC GRKASETCSG CNIARYCGSF CQHKDWERHH
   541  RLCGQNLHGQ SPHGQGRPLL PVGRGSSARS ADCSVPSPAL DKTSATTSRS STPASVTAID
   601  TNGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CBFA2T2 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.58
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • prostate: 16 nTPM
  • retina: 14 nTPM
  • skin: 11 nTPM
  • colon: 11 nTPM
  • cerebellum: 11 nTPM
  • ovary: 11 nTPM

Single-cell type

  • prostatic glandular cells: 349 nCPM
  • goblet cells: 326 nCPM
  • rod photoreceptor cells: 301 nCPM
  • myonuclei: 298 nCPM
  • distal convoluted tubule cells: 291 nCPM
  • renal connecting tubule cells: 273 nCPM

Immune cell

  • basophil: 3.8 nTPM
  • memory CD8 T-cell: 2.7 nTPM
  • naive B-cell: 2.7 nTPM
  • memory B-cell: 2.6 nTPM
  • memory CD4 T-cell: 2.2 nTPM
  • gdT-cell: 2.1 nTPM

Brain region

  • white matter: 46 nTPM
  • cerebral cortex: 39 nTPM
  • hippocampal formation: 38 nTPM
  • thalamus: 36 nTPM
  • hypothalamus: 36 nTPM
  • pons: 35 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)
0.26
gnomAD pLI
1
gnomAD missense Z
2.48
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CBFA2T2 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 CBFA2T2 as an antibody target. Whether an autoantibody or antibody against CBFA2T2 could matter depends on whether native CBFA2T2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CBFA2T2 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 CBFA2T2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CBFA2T2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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