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CBFA2T3 CBFA2/RUNX1 translocation partner 3 [ Homo sapiens (human) ]

Gene ID: 863, updated on 3-Jan-2019

Summary

Official Symbol
CBFA2T3provided by HGNC
Official Full Name
CBFA2/RUNX1 translocation partner 3provided by HGNC
Primary source
HGNC:HGNC:1537
See related
Ensembl:ENSG00000129993 MIM:603870
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
ETO2; MTG16; MTGR2; ZMYND4; RUNX1T3
Summary
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]
Expression
Broad expression in spleen (RPKM 6.2), lymph node (RPKM 3.7) and 24 other tissues See more
Orthologs

Genomic context

See CBFA2T3 in Genome Data Viewer
Location:
16q24.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (88874855..88977149, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88941263..89043568, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene galactosamine (N-acetyl)-6-sulfatase Neighboring gene uncharacterized LOC107983950 Neighboring gene trafficking protein particle complex 2 like Neighboring gene poly(A) binding protein nuclear 1 like, cytoplasmic Neighboring gene uncharacterized LOC101927793 Neighboring gene uncharacterized LOC102724632 Neighboring gene cadmium/zinc-transporting ATPase HMA2-like Neighboring gene uncharacterized LOC107984871 Neighboring gene uncharacterized LOC100129697 Neighboring gene VISTA enhancer hs1854 Neighboring gene GATA motif-containing MPRA enhancer 137

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of autistic-like traits in a general population study of young adults.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
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 TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein CBFA2T3
Names
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
zinc finger MYND domain-containing protein 4

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.

Genomic

  1. NG_029533.1 RefSeqGene

    Range
    5001..107242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005187.5NP_005178.4  protein CBFA2T3 isoform 1

    See identical proteins and their annotated locations for NP_005178.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, encodes the longer isoform (1) and is also known as MTG16a.
    Source sequence(s)
    AC092384, BC047019, BP282804
    Consensus CDS
    CCDS10972.1
    UniProtKB/Swiss-Prot
    O75081
    Related
    ENSP00000268679.4, ENST00000268679.8
    Conserved Domains (4) summary
    pfam01753
    Location:556592
    zf-MYND; MYND finger
    pfam07531
    Location:173259
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:379445
    NHR2; NHR2 domain like
    cl23750
    Location:482553
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. NM_175931.2NP_787127.1  protein CBFA2T3 isoform 2

    See identical proteins and their annotated locations for NP_787127.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame coding exon, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (2) that lacks an internal segment and has a shorter N-terminus, compared to isoform 1. Variant 2 is also known as MTG16b.
    Source sequence(s)
    AB010420, AC092384, BE676580
    Consensus CDS
    CCDS10973.1
    UniProtKB/Swiss-Prot
    O75081
    Related
    ENSP00000332122.5, ENST00000327483.9
    Conserved Domains (4) summary
    pfam01753
    Location:470506
    zf-MYND; MYND finger
    pfam07531
    Location:87173
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:293359
    NHR2; NHR2 domain like
    cl23750
    Location:396467
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    88874855..88977149 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256323.5XP_005256380.1  protein CBFA2T3 isoform X1

    See identical proteins and their annotated locations for XP_005256380.1

    Conserved Domains (4) summary
    pfam01753
    Location:531567
    zf-MYND; MYND finger
    pfam07531
    Location:148234
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:354420
    NHR2; NHR2 domain like
    cl23750
    Location:457528
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. XM_024450476.1XP_024306244.1  protein CBFA2T3 isoform X2

    Conserved Domains (4) summary
    pfam01753
    Location:495531
    zf-MYND; MYND finger
    pfam07531
    Location:112198
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:318384
    NHR2; NHR2 domain like
    cl23750
    Location:421492
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  3. XM_011523419.3XP_011521721.1  protein CBFA2T3 isoform X3

    Conserved Domains (3) summary
    pfam07531
    Location:173259
    TAFH; NHR1 homology to TAF
    pfam08788
    Location:379445
    NHR2; NHR2 domain like
    cl23750
    Location:482553
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

RNA

  1. XR_002957849.1 RNA Sequence

  2. XR_933473.3 RNA Sequence

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