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CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 [ Homo sapiens (human) ]

Gene ID: 9139, updated on 29-Mar-2020

Summary

Official Symbol
CBFA2T2provided by HGNC
Official Full Name
CBFA2/RUNX1 partner transcriptional co-repressor 2provided by HGNC
Primary source
HGNC:HGNC:1536
See related
Ensembl:ENSG00000078699 MIM:603672
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]
Expression
Ubiquitous expression in prostate (RPKM 6.7), testis (RPKM 4.3) and 25 other tissues See more
Orthologs

Genomic context

See CBFA2T2 in Genome Data Viewer
Location:
20q11.21-q11.22
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (33490070..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 VISTA enhancer hs2173 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intestinal epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Notch signaling pathway 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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein CBFA2T2
Names
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-related protein 1
myeloid translocation-related protein 1

NCBI Reference Sequences (RefSeq)

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_001032999.3NP_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, AL162505, BC016298, CB998035
    Consensus CDS
    CCDS46590.1
    UniProtKB/Swiss-Prot
    O43439
    Related
    ENSP00000345810.5, ENST00000342704.10
    Conserved Domains (4) summary
    pfam01753
    Location:498534
    zf-MYND; MYND finger
    pfam03763
    Location:430481
    Remorin_C; Remorin, C-terminal region
    pfam07531
    Location:106192
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:322388
    NHR2; NHR2 domain like
  2. NM_001039709.1NP_001034798.1  protein CBFA2T2 isoform MTGR1a

    See identical proteins and their annotated locations for 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
    ENSP00000380902.1, ENST00000397800.5
    Conserved Domains (4) summary
    pfam01753
    Location:478514
    zf-MYND; MYND finger
    pfam03763
    Location:410461
    Remorin_C; Remorin, C-terminal region
    pfam07531
    Location:86172
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:302368
    NHR2; NHR2 domain like
  3. NM_005093.3NP_005084.1  protein CBFA2T2 isoform MTGR1b

    See identical proteins and their annotated locations for 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
    ENSP00000262653.7, ENST00000346541.7
    Conserved Domains (4) summary
    pfam01753
    Location:507543
    zf-MYND; MYND finger
    pfam03763
    Location:439490
    Remorin_C; Remorin, C-terminal region
    pfam07531
    Location:115201
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:331397
    NHR2; NHR2 domain like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    33490070..33650031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028122.2XP_016883611.1  protein CBFA2T2 isoform X3

  2. XM_011529103.2XP_011527405.1  protein CBFA2T2 isoform X1

    See identical proteins and their annotated locations for XP_011527405.1

    UniProtKB/Swiss-Prot
    O43439
    Conserved Domains (4) summary
    pfam01753
    Location:478514
    zf-MYND; MYND finger
    pfam03763
    Location:410461
    Remorin_C; Remorin, C-terminal region
    pfam07531
    Location:86172
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:302368
    NHR2; NHR2 domain like
  3. XM_017028124.2XP_016883613.1  protein CBFA2T2 isoform X6

    Conserved Domains (3) summary
    pfam01753
    Location:281317
    zf-MYND; MYND finger
    pfam03763
    Location:213264
    Remorin_C; Remorin, C-terminal region
    pfam08788
    Location:105171
    NHR2; NHR2 domain like
  4. XM_017028121.1XP_016883610.1  protein CBFA2T2 isoform X1

    UniProtKB/Swiss-Prot
    O43439
    Conserved Domains (4) summary
    pfam01753
    Location:478514
    zf-MYND; MYND finger
    pfam03763
    Location:410461
    Remorin_C; Remorin, C-terminal region
    pfam07531
    Location:86172
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:302368
    NHR2; NHR2 domain like
  5. XM_011529102.2XP_011527404.1  protein CBFA2T2 isoform X2

    Conserved Domains (3) summary
    pfam01753
    Location:477513
    zf-MYND; MYND finger
    pfam07531
    Location:86172
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:302368
    NHR2; NHR2 domain like
  6. XM_017028123.1XP_016883612.1  protein CBFA2T2 isoform X5

  7. XM_011529101.2XP_011527403.1  protein CBFA2T2 isoform X4

    See identical proteins and their annotated locations for XP_011527403.1

    UniProtKB/Swiss-Prot
    O43439
    Related
    ENSP00000352622.3, ENST00000359606.3
    Conserved Domains (4) summary
    pfam01753
    Location:517553
    zf-MYND; MYND finger
    pfam07531
    Location:125211
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:341407
    NHR2; NHR2 domain like
    cl27055
    Location:448516
    MutS_III; MutS domain III
  8. XM_011529107.2XP_011527409.1  protein CBFA2T2 isoform X6

    See identical proteins and their annotated locations for XP_011527409.1

    Conserved Domains (3) summary
    pfam01753
    Location:281317
    zf-MYND; MYND finger
    pfam03763
    Location:213264
    Remorin_C; Remorin, C-terminal region
    pfam08788
    Location:105171
    NHR2; NHR2 domain like
  9. XM_017028125.1XP_016883614.1  protein CBFA2T2 isoform X7

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.
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