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Entry version 166 (08 May 2019)
Sequence version 1 (01 Jun 1998)
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Protein

Protein CBFA2T2

Gene

CBFA2T2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri517 – 553MYND-typePROSITE-ProRule annotationAdd BLAST37

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CBFA2T2
Synonyms:EHT, MTGR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:1536 CBFA2T2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603672 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43439

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei20 – 21Breakpoint for translocation to form RUNX1-CBFA2T2 in acute myeloid leukemia1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
9139

Open Targets

More...
OpenTargetsi
ENSG00000078699

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26112

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CBFA2T2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002183011 – 604Protein CBFA2T2Add BLAST604

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei33PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43439

MaxQB - The MaxQuant DataBase

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MaxQBi
O43439

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O43439

PeptideAtlas

More...
PeptideAtlasi
O43439

PRoteomics IDEntifications database

More...
PRIDEi
O43439

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48949
48950 [O43439-2]
48951 [O43439-3]
48952 [O43439-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43439

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43439

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000078699 Expressed in 232 organ(s), highest expression level in forebrain

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43439 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43439 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060523
HPA072433

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114586, 28 interactors

Database of interacting proteins

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DIPi
DIP-38274N

Protein interaction database and analysis system

More...
IntActi
O43439, 33 interactors

Molecular INTeraction database

More...
MINTi
O43439

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262653

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43439

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini113 – 208TAFHPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili451 – 491Sequence analysisAdd BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi33 – 97Pro-richAdd BLAST65

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IG1Z Eukaryota
ENOG410XR30 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183176

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43439

KEGG Orthology (KO)

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KOi
K22751

Identification of Orthologs from Complete Genome Data

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OMAi
QHEHILL

Database of Orthologous Groups

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OrthoDBi
334242at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43439

TreeFam database of animal gene trees

More...
TreeFami
TF106303

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.120.1110, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013289 CBFA2T1/2/3
IPR013291 MTGR1
IPR014896 NHR2
IPR037249 TAFH/NHR1_dom_sf
IPR003894 TAFH_NHR1
IPR002893 Znf_MYND

The PANTHER Classification System

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PANTHERi
PTHR10379 PTHR10379, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF08788 NHR2, 1 hit
PF07531 TAFH, 1 hit
PF01753 zf-MYND, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01875 ETOFAMILY
PR01877 MTGR1PROTEIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00549 TAFH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF158553 SSF158553, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51119 TAFH, 1 hit
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q68DC6Q68DC6_HUMAN
Protein CBFA2T2
CBFA2T2 DKFZp313F2116
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti31P → H in AAH15066 (PubMed:15489334).Curated1
Sequence conflicti266A → V in AK307887 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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 Genomic DNA No translation available.
AL121906 Genomic DNA No translation available.
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS13221.1 [O43439-1]
CCDS46590.1 [O43439-5]

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000342704; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9139

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9139

UCSC genome browser

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UCSCi
uc002wze.2 human [O43439-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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 Genomic DNA No translation available.
AL121906 Genomic DNA No translation available.
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]

3D structure databases

SMRiO43439
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114586, 28 interactors
DIPiDIP-38274N
IntActiO43439, 33 interactors
MINTiO43439
STRINGi9606.ENSP00000262653

PTM databases

iPTMnetiO43439
PhosphoSitePlusiO43439

Polymorphism and mutation databases

BioMutaiCBFA2T2

Proteomic databases

jPOSTiO43439
MaxQBiO43439
PaxDbiO43439
PeptideAtlasiO43439
PRIDEiO43439
ProteomicsDBi48949
48950 [O43439-2]
48951 [O43439-3]
48952 [O43439-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9139
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9139
DisGeNETi9139

GeneCards: human genes, protein and diseases

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GeneCardsi
CBFA2T2
HGNCiHGNC:1536 CBFA2T2
HPAiHPA060523
HPA072433
MIMi603672 gene
neXtProtiNX_O43439
OpenTargetsiENSG00000078699
PharmGKBiPA26112

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IG1Z Eukaryota
ENOG410XR30 LUCA
GeneTreeiENSGT00950000183176
InParanoidiO43439
KOiK22751
OMAiQHEHILL
OrthoDBi334242at2759
PhylomeDBiO43439
TreeFamiTF106303

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CBFA2T2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CBFA2T2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9139

Protein Ontology

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PROi
PR:O43439

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000078699 Expressed in 232 organ(s), highest expression level in forebrain
ExpressionAtlasiO43439 baseline and differential
GenevisibleiO43439 HS

Family and domain databases

Gene3Di1.20.120.1110, 1 hit
InterProiView protein in InterPro
IPR013289 CBFA2T1/2/3
IPR013291 MTGR1
IPR014896 NHR2
IPR037249 TAFH/NHR1_dom_sf
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
SUPFAMiSSF158553 SSF158553, 1 hit
PROSITEiView protein in PROSITE
PS51119 TAFH, 1 hit
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTG8R_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43439
Secondary accession number(s): B2RAE6
, F8W6D7, Q5TGE4, Q5TGE5, Q5TGE6, Q5TGE7, Q8IWF3, Q96B06, Q96L00, Q9H436, Q9UJP8, Q9UJP9, Q9UP24
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: June 1, 1998
Last modified: May 8, 2019
This is version 166 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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