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Protein

Protein CBFA2T2

Gene

CBFA2T2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity).2 PublicationsBy similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri517 – 553MYND-typePROSITE-ProRule annotationAdd BLAST37

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CBFA2T2
Alternative name(s):
ETO homologous on chromosome 20
MTG8-like protein
MTG8-related protein 1
Myeloid translocation-related protein 1
p85
Gene namesi
Name:CBFA2T2
Synonyms:EHT, MTGR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000078699.21.
HGNCiHGNC:1536. CBFA2T2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CBFA2T2 is found in childhood precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Translocation t(9;20)(p13;q11) with PAX5.1 Publication
A chromosomal aberration involving CBFA2T2 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with RUNX1/AML1.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei20 – 21Breakpoint for translocation to form RUNX1-CBFA2T2 in acute myeloid leukemia1 Publication2

Organism-specific databases

DisGeNETi9139.
OpenTargetsiENSG00000078699.
PharmGKBiPA26112.

Polymorphism and mutation databases

BioMutaiCBFA2T2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002183011 – 604Protein CBFA2T2Add BLAST604

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei33PhosphoserineCombined sources1
Cross-linki38Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei264PhosphoserineCombined sources1
Modified residuei409PhosphoserineCombined sources1
Cross-linki449Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei577PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiO43439.
PaxDbiO43439.
PeptideAtlasiO43439.
PRIDEiO43439.

PTM databases

iPTMnetiO43439.
PhosphoSitePlusiO43439.

Expressioni

Tissue specificityi

Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus.4 Publications

Gene expression databases

BgeeiENSG00000078699.
ExpressionAtlasiO43439. baseline and differential.
GenevisibleiO43439. HS.

Organism-specific databases

HPAiHPA060523.
HPA072433.

Interactioni

Subunit structurei

Homooligomer. Homotetramerization is mediated by nervy homology region 2 (By similarity). Can interact with RUNX1T1/CBFA2T1 and CBFA2T3/MTG16; heterotetramerization between members of the CBFA2T family is proposed (PubMed:12242670, PubMed:14703694, PubMed:16616331). Forms a heterooligomer with the AML1-MTG8/ETO fusion protein (PubMed:9447981). Interacts with PRDM14 (PubMed:27281218). Interacts with RBPJ, GFI1, TCF4. Interacts with TAL1 and CBFA2T3/MTG16; the heteromer with CBFA2T3/MTG16 may function in repression of TAL1 (By similarity).By similarityCurated5 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi114586. 26 interactors.
DIPiDIP-38274N.
IntActiO43439. 21 interactors.
MINTiMINT-2865952.
STRINGi9606.ENSP00000262653.

Structurei

3D structure databases

ProteinModelPortaliO43439.
SMRiO43439.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini113 – 208TAFHPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni107 – 215Interaction with PRDM14By similarityAdd BLAST109
Regioni331 – 377Nervy homology region 2 (NHR2)CuratedAdd BLAST47
Regioni435 – 484Nervy homology region 3 (NHR3)CuratedAdd BLAST50

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili451 – 491Sequence analysisAdd BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi33 – 97Pro-richAdd BLAST65

Domaini

Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.By similarity

Sequence similaritiesi

Belongs to the CBFA2T family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri517 – 553MYND-typePROSITE-ProRule annotationAdd BLAST37

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IG1Z. Eukaryota.
ENOG410XR30. LUCA.
GeneTreeiENSGT00390000013479.
HOVERGENiHBG000169.
InParanoidiO43439.
OMAiHRLCGQN.
OrthoDBiEOG091G0EIC.
PhylomeDBiO43439.
TreeFamiTF106303.

Family and domain databases

InterProiView protein in InterPro
IPR013289. CBFA2T1/2/3.
IPR013291. MTGR1.
IPR014896. NHR2.
IPR003894. TAFH_NHR1.
IPR002893. Znf_MYND.
PANTHERiPTHR10379. PTHR10379. 1 hit.
PfamiView protein in Pfam
PF08788. NHR2. 1 hit.
PF07531. TAFH. 1 hit.
PF01753. zf-MYND. 1 hit.
PRINTSiPR01875. ETOFAMILY.
PR01877. MTGR1PROTEIN.
SMARTiView protein in SMART
SM00549. TAFH. 1 hit.
PROSITEiView protein in PROSITE
PS51119. TAFH. 1 hit.
PS01360. ZF_MYND_1. 1 hit.
PS50865. ZF_MYND_2. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43439-1) [UniParc]FASTAAdd to basket
Also known as: MTGR1b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAKESGISLK EIQVLARQWK VGPEKRVPAM PGSPVEVKIQ SRSSPPTMPP
60 70 80 90 100
LPPINPGGPR PVSFTPTALS NGINHSPPTL NGAPSPPQRF SNGPASSTSS
110 120 130 140 150
ALTNQQLPAT CGARQLSKLK RFLTTLQQFG NDISPEIGEK VRTLVLALVN
160 170 180 190 200
STVTIEEFHC KLQEATNFPL RPFVIPFLKA NLPLLQRELL HCARAAKQTP
210 220 230 240 250
SQYLAQHEHL LLNTSIASPA DSSELLMEVH GNGKRPSPER REENSFDRDT
260 270 280 290 300
IAPEPPAKRV CTISPAPRHS PALTVPLMNP GGQFHPTPPP LQHYTLEDIA
310 320 330 340 350
TSHLYREPNK MLEHREVRDR HHSLGLNGGY QDELVDHRLT EREWADEWKH
360 370 380 390 400
LDHALNCIME MVEKTRRSMA VLRRCQESDR EELNYWKRRY NENTELRKTG
410 420 430 440 450
TELVSRQHSP GSADSLSNDS QREFNSRPGT GYVPVEFWKK TEEAVNKVKI
460 470 480 490 500
QAMSEVQKAV AEAEQKAFEV IATERARMEQ TIADVKRQAA EDAFLVINEQ
510 520 530 540 550
EESTENCWNC GRKASETCSG CNIARYCGSF CQHKDWERHH RLCGQNLHGQ
560 570 580 590 600
SPHGQGRPLL PVGRGSSARS ADCSVPSPAL DKTSATTSRS STPASVTAID

TNGL
Length:604
Mass (Da):67,133
Last modified:June 1, 1998 - v1
Checksum:i1E55618844908169
GO
Isoform 2 (identifier: O43439-2) [UniParc]FASTAAdd to basket
Also known as: MTGR1a, EHT

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.

Show »
Length:575
Mass (Da):63,901
Checksum:i7B11331102BD85DB
GO
Isoform 3 (identifier: O43439-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     240-292: RREENSFDRD...QFHPTPPPLQ → SCIIHLKSMG...SLRSTVLPFP
     293-604: Missing.

Show »
Length:263
Mass (Da):28,567
Checksum:i6DB58D27B5066D25
GO
Isoform 4 (identifier: O43439-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MAKESGISLKEIQVLARQWK → MGFHHVGQARLELLTSGDLPALASQRAGIT

Show »
Length:614
Mass (Da):67,965
Checksum:iF5373F002C17ACB4
GO
Isoform 5 (identifier: O43439-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MAKESGISLKEIQVLARQWKV → MVGVPGAAAFQL

Note: No experimental confirmation available.
Show »
Length:595
Mass (Da):65,878
Checksum:i19D9363F626BEF0F
GO

Sequence cautioni

The sequence AAC19378 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AK307887 differs from that shown. Reason: Frameshift at position 438.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31P → H in AAH15066 (PubMed:15489334).Curated1
Sequence conflicti266A → V in AK307887 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0081211 – 29Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_0474101 – 21MAKES…RQWKV → MVGVPGAAAFQL in isoform 5. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_0081221 – 20MAKES…ARQWK → MGFHHVGQARLELLTSGDLP ALASQRAGIT in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_008123240 – 292RREEN…PPPLQ → SCIIHLKSMGVASRHEYFSG TLQMPAHPVRNSTLENLWVD CSRSLRSTVLPFP in isoform 3. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_008124293 – 604Missing in isoform 3. 1 PublicationAdd BLAST312

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039200 mRNA. Translation: AAC17499.1.
AF068266 mRNA. Translation: AAC19378.1. Different initiation.
AF013970 mRNA. Translation: AAC39841.1.
AF069747 mRNA. Translation: AAD02825.1.
AF076461
, AF076452, AF076453, AF076454, AF076455, AF076456, AF076457, AF076458, AF076459, AF076460 Genomic DNA. Translation: AAD41221.1.
AK307887 mRNA. No translation available.
AK314159 mRNA. Translation: BAG36843.1.
AL034421, AL121906 Genomic DNA. Translation: CAI19280.2.
AL034421, AL121906 Genomic DNA. Translation: CAI19281.1.
AL121906, AL034421 Genomic DNA. Translation: CAI22125.1.
AL121906, AL034421 Genomic DNA. Translation: CAI22130.1.
AL121906, AL034421 Genomic DNA. Translation: CAM28282.1.
AL162505 Genomic DNA. No translation available.
CH471077 Genomic DNA. Translation: EAW76311.1.
BC015066 mRNA. Translation: AAH15066.1.
BC016298 mRNA. Translation: AAH16298.2.
BC040344 mRNA. Translation: AAH40344.1.
AF052210 mRNA. Translation: AAC64699.1.
CCDSiCCDS13221.1. [O43439-1]
CCDS46590.1. [O43439-5]
RefSeqiNP_001028171.1. NM_001032999.2. [O43439-5]
NP_001034798.1. NM_001039709.1. [O43439-2]
NP_005084.1. NM_005093.3. [O43439-1]
XP_011527403.1. XM_011529101.2. [O43439-4]
XP_011527405.1. XM_011529103.2. [O43439-2]
XP_016883610.1. XM_017028121.1. [O43439-2]
UniGeneiHs.153934.

Genome annotation databases

EnsembliENST00000342704; ENSP00000345810; ENSG00000078699. [O43439-5]
ENST00000344201; ENSP00000341865; ENSG00000078699. [O43439-3]
ENST00000346541; ENSP00000262653; ENSG00000078699. [O43439-1]
ENST00000359606; ENSP00000352622; ENSG00000078699. [O43439-4]
ENST00000375279; ENSP00000364428; ENSG00000078699. [O43439-1]
ENST00000397800; ENSP00000380902; ENSG00000078699. [O43439-2]
ENST00000492345; ENSP00000433270; ENSG00000078699. [O43439-2]
GeneIDi9139.
KEGGihsa:9139.
UCSCiuc002wze.2. human. [O43439-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMTG8R_HUMAN
AccessioniPrimary (citable) accession number: O43439
Secondary accession number(s): B2RAE6
, F8W6D7, Q5TGE4, Q5TGE5, Q5TGE6, Q5TGE7, Q8IWF3, Q96B06, Q96L00, Q9H436, Q9UJP8, Q9UJP9, Q9UP24
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: June 1, 1998
Last modified: September 27, 2017
This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families