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Protein

T-box transcription factor TBX6

Gene

TBX6

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

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi100 – 273T-boxPROSITE-ProRule annotationAdd BLAST174

<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 functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

<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:
T-box transcription factor TBX6
Short name:
T-box protein 6
<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:TBX6
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000149922.10

Human Gene Nomenclature Database

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HGNCi
HGNC:11605 TBX6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602427 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95947

<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; 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

Spondylocostal dysostosis 5 (SCDO5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive.
See also OMIM:122600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078495145P → L in SCDO5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202193096EnsemblClinVar.1

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
6911

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TBX6

MalaCards human disease database

More...
MalaCardsi
TBX6
MIMi122600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149922

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1797 Autosomal dominant spondylocostal dysostosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36368

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBX6

<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_00001844381 – 436T-box transcription factor TBX6Add BLAST436

Proteomic databases

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

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PaxDbi
O95947

PeptideAtlas

More...
PeptideAtlasi
O95947

PRoteomics IDEntifications database

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PRIDEi
O95947

ProteomicsDB human proteome resource

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ProteomicsDBi
51140

PTM databases

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

More...
PhosphoSitePlusi
O95947

<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

Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed during gastrulation and during a second phase in some adult tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000149922 Expressed in 110 organ(s), highest expression level in lower esophagus mucosa

CleanEx database of gene expression profiles

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CleanExi
HS_TBX6

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95947 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95947 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062498

<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

Forms a dimeric complex with DNA (in vitro).

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112774, 7 interactors

Protein interaction database and analysis system

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IntActi
O95947, 32 interactors

Molecular INTeraction database

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MINTi
O95947

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000279386

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O95947

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

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SMRi
O95947

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3585 Eukaryota
ENOG410XSTS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160732

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000286000

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG101171

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95947

KEGG Orthology (KO)

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KOi
K10180

Identification of Orthologs from Complete Genome Data

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OMAi
SAEAYLM

Database of Orthologous Groups

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OrthoDBi
828211at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95947

TreeFam database of animal gene trees

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TreeFami
TF106341

Family and domain databases

Conserved Domains Database

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CDDi
cd00182 TBOX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.820, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS

The PANTHER Classification System

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PANTHERi
PTHR11267 PTHR11267, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00907 T-box, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00938 BRACHYURY
PR00937 TBOX

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00425 TBOX, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49417 SSF49417, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O95947-1) [UniParc]FASTAAdd to basket

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
MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL
60 70 80 90 100
SGMEAAPRTL AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL
110 120 130 140 150
WKEFSSVGTE MIITKAGRRM FPACRVSVTG LDPEARYLFL LDVIPVDGAR
160 170 180 190 200
YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA TGAHWMRQPV SFHRVKLTNS
210 220 230 240 250
TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR FPETTFISVT
260 270 280 290 300
AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA
310 320 330 340 350
YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL
360 370 380 390 400
LHPAAFHGAP SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA
410 420 430
APPAVPFAPH FLQGGPFPLP YTAPGGYLDV GSKPMY
Length:436
Mass (Da):47,045
Last modified:October 3, 2006 - v2
<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:i649CDFB141B966F4
GO
Isoform 2 (identifier: O95947-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-294: ERDARVKRKLRGPE → WELFIHLFMHSTNV
     295-435: Missing.

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):33,197
Checksum:iF2BD3E53E0ED21E0
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
A0A0D9SEK4A0A0D9SEK4_HUMAN
T-box transcription factor TBX6
TBX6
436Annotation 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>

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 conflicti207H → HV in CAB37938 (PubMed:9888994).Curated1
Sequence conflicti388 – 389EL → DV in CAA07812 (PubMed:9933572).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078494111M → I in congenital scoliosis; unknown pathological significance; decreases transcriptional activity. 1 Publication1
Natural variantiVAR_078495145P → L in SCDO5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202193096EnsemblClinVar.1
Natural variantiVAR_078496150R → C in congenital scoliosis; unknown pathological significance; not change transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs949681104Ensembl.1
Natural variantiVAR_061837162G → S. Corresponds to variant dbSNP:rs56098093Ensembl.1
Natural variantiVAR_027836178S → F. Corresponds to variant dbSNP:rs12925839Ensembl.1
Natural variantiVAR_027837179P → S. Corresponds to variant dbSNP:rs12925838Ensembl.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_054003281 – 294ERDAR…LRGPE → WELFIHLFMHSTNV in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_054004295 – 435Missing in isoform 2. 1 PublicationAdd BLAST141

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

More...
DDBJi
Links Updated
AJ007989 mRNA Translation: CAA07812.1
AK022330 mRNA Translation: BAB14014.1
AC012645 Genomic DNA No translation available.
AC093512 Genomic DNA No translation available.
CH471238 Genomic DNA Translation: EAW79927.1
BC026031 mRNA Translation: AAH26031.1
AJ010279 Genomic DNA Translation: CAB37938.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS10670.1 [O95947-1]

NCBI Reference Sequences

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RefSeqi
NP_004599.2, NM_004608.3 [O95947-1]
XP_005255580.1, XM_005255523.2 [O95947-1]
XP_011544228.1, XM_011545926.2 [O95947-1]
XP_016879103.1, XM_017023614.1 [O95947-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.198301

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000279386; ENSP00000279386; ENSG00000149922 [O95947-1]
ENST00000395224; ENSP00000378650; ENSG00000149922 [O95947-1]
ENST00000553607; ENSP00000461223; ENSG00000149922 [O95947-2]
ENST00000567664; ENSP00000460425; ENSG00000149922 [O95947-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6911

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6911

UCSC genome browser

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UCSCi
uc002dwk.1 human [O95947-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AJ007989 mRNA Translation: CAA07812.1
AK022330 mRNA Translation: BAB14014.1
AC012645 Genomic DNA No translation available.
AC093512 Genomic DNA No translation available.
CH471238 Genomic DNA Translation: EAW79927.1
BC026031 mRNA Translation: AAH26031.1
AJ010279 Genomic DNA Translation: CAB37938.1
CCDSiCCDS10670.1 [O95947-1]
RefSeqiNP_004599.2, NM_004608.3 [O95947-1]
XP_005255580.1, XM_005255523.2 [O95947-1]
XP_011544228.1, XM_011545926.2 [O95947-1]
XP_016879103.1, XM_017023614.1 [O95947-1]
UniGeneiHs.198301

3D structure databases

ProteinModelPortaliO95947
SMRiO95947
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112774, 7 interactors
IntActiO95947, 32 interactors
MINTiO95947
STRINGi9606.ENSP00000279386

PTM databases

PhosphoSitePlusiO95947

Polymorphism and mutation databases

BioMutaiTBX6

Proteomic databases

PaxDbiO95947
PeptideAtlasiO95947
PRIDEiO95947
ProteomicsDBi51140

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6911
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000279386; ENSP00000279386; ENSG00000149922 [O95947-1]
ENST00000395224; ENSP00000378650; ENSG00000149922 [O95947-1]
ENST00000553607; ENSP00000461223; ENSG00000149922 [O95947-2]
ENST00000567664; ENSP00000460425; ENSG00000149922 [O95947-2]
GeneIDi6911
KEGGihsa:6911
UCSCiuc002dwk.1 human [O95947-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6911
DisGeNETi6911
EuPathDBiHostDB:ENSG00000149922.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TBX6
GeneReviewsiTBX6
HGNCiHGNC:11605 TBX6
HPAiHPA062498
MalaCardsiTBX6
MIMi122600 phenotype
602427 gene
neXtProtiNX_O95947
OpenTargetsiENSG00000149922
Orphaneti1797 Autosomal dominant spondylocostal dysostosis
PharmGKBiPA36368

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00940000160732
HOGENOMiHOG000286000
HOVERGENiHBG101171
InParanoidiO95947
KOiK10180
OMAiSAEAYLM
OrthoDBi828211at2759
PhylomeDBiO95947
TreeFamiTF106341

Miscellaneous databases

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

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GenomeRNAii
6911

Protein Ontology

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PROi
PR:O95947

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000149922 Expressed in 110 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_TBX6
ExpressionAtlasiO95947 baseline and differential
GenevisibleiO95947 HS

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiTBX6_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: O95947
Secondary accession number(s): Q8TAS4, Q9HA44
<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: July 15, 1999
Last sequence update: October 3, 2006
Last modified: January 16, 2019
This is version 169 of the entry and version 2 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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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