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CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 [ Homo sapiens (human) ]

Gene ID: 9139, updated on 7-Dec-2014
Official Symbol
CBFA2T2provided by HGNC
Official Full Name
core-binding factor, runt domain, alpha subunit 2; translocated to, 2provided by HGNC
Primary source
HGNC:HGNC:1536
Locus tag
RP5-1137F22.1
See related
Ensembl:ENSG00000078699; HPRD:04721; MIM:603672; Vega:OTTHUMG00000032261
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EHT; p85; MTGR1; ZMYND3
Summary
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]
See CBFA2T2 in Epigenomics, MapViewer
Location:
20q11
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (33490122..33650031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32077928..32237837)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CDK5 regulatory subunit associated protein 1 Neighboring gene syntrophin, alpha 1 Neighboring gene chromosome 20 open reading frame 144 Neighboring gene N-terminal EF-hand calcium binding protein 3 Neighboring gene actin-like 10

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp313F2116

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
 
positive regulation of neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein CBFA2T2
Names
protein CBFA2T2
MTG8-like protein
MTG8-related protein 1
ETO homolog on chromosome 20
ETO homologous on chromosome 20
myeloid translocation-related protein 1
myeloid translocation gene-related protein 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001032999.2NP_001028171.1  protein CBFA2T2 isoform MTGR1c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 2. The resulting isoform (MTGR1c) has a shorter and distinct N-terminus compared to isoform MTGR1b.
    Source sequence(s)
    AL121906, BC016298, CB998035
    Consensus CDS
    CCDS46590.1
    UniProtKB/Swiss-Prot
    O43439
    Conserved Domains (3) summary
    pfam08788
    Location:322388
    NHR2; NHR2 domain like
    pfam07531
    Location:104199
    TAFH; NHR1 homology to TAF
    pfam01753
    Location:498534
    zf-MYND; MYND finger
  2. NM_001039709.1NP_001034798.1  protein CBFA2T2 isoform MTGR1a

    See proteins identical to NP_001034798.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon compared to variant 2. The resulting isoform (MTGR1a) is shorter at the N-terminus compared to isoform MTGR1b.
    Source sequence(s)
    AF069747, AL121906, CN347014
    UniProtKB/Swiss-Prot
    O43439
    Related
    ENSP00000380902, ENST00000397800
    Conserved Domains (3) summary
    pfam08788
    Location:302368
    NHR2; NHR2 domain like
    pfam07531
    Location:84179
    TAFH; NHR1 homology to TAF
    pfam01753
    Location:478514
    zf-MYND; MYND finger
  3. NM_005093.3NP_005084.1  protein CBFA2T2 isoform MTGR1b

    See proteins identical to NP_005084.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (MTGR1b).
    Source sequence(s)
    AF069747, AL121906, CN347014
    Consensus CDS
    CCDS13221.1
    UniProtKB/Swiss-Prot
    O43439
    Related
    ENSP00000262653, ENST00000346541
    Conserved Domains (3) summary
    pfam08788
    Location:331397
    NHR2; NHR2 domain like
    pfam07531
    Location:113208
    TAFH; NHR1 homology to TAF
    pfam01753
    Location:507543
    zf-MYND; MYND finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    33490122..33650031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723886.1XP_006723949.1  

    See proteins identical to XP_006723949.1

    UniProtKB/Swiss-Prot
    O43439
    Conserved Domains (3) summary
    pfam08788
    Location:331397
    NHR2; NHR2 domain like
    pfam07531
    Location:113208
    TAFH; NHR1 homology to TAF
    pfam01753
    Location:507543
    zf-MYND; MYND finger
  2. XM_006723887.1XP_006723950.1  

    Conserved Domains (3) summary
    pfam08788
    Location:331397
    NHR2; NHR2 domain like
    pfam07531
    Location:113208
    TAFH; NHR1 homology to TAF
    pfam01753
    Location:506542
    zf-MYND; MYND finger

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    31979005..32138929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    28864904..29023937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175864.1: Suppressed sequence

    Description
    NM_175864.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.