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Protein

T-box transcription factor TBX6

Gene

TBX6

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

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
DNA bindingi100 – 273T-boxPROSITE-ProRule annotationAdd BLAST174

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX6
Short name:
T-box protein 6
Gene namesi
Name:TBX6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000149922.10
HGNCiHGNC:11605 TBX6
MIMi602427 gene
neXtProtiNX_O95947

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

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
Natural variantiVAR_078495145P → L in SCDO5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202193096EnsemblClinVar.1

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi6911
MalaCardsiTBX6
MIMi122600 phenotype
OpenTargetsiENSG00000149922
Orphaneti1797 Autosomal dominant spondylocostal dysostosis
PharmGKBiPA36368

Polymorphism and mutation databases

BioMutaiTBX6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844381 – 436T-box transcription factor TBX6Add BLAST436

Proteomic databases

PaxDbiO95947
PeptideAtlasiO95947
PRIDEiO95947
ProteomicsDBi51140

PTM databases

PhosphoSitePlusiO95947

Expressioni

Tissue specificityi

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

Developmental stagei

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

Gene expression databases

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

Organism-specific databases

HPAiHPA062498

Interactioni

Subunit structurei

Forms a dimeric complex with DNA (in vitro).

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliO95947
SMRiO95947
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG101171
InParanoidiO95947
KOiK10180
OMAiSAEAYLM
PhylomeDBiO95947
TreeFamiTF106341

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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

DNASUi6911
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

CTDi6911
DisGeNETi6911
EuPathDBiHostDB:ENSG00000149922.10
GeneCardsiTBX6
HGNCiHGNC:11605 TBX6
HPAiHPA062498
MalaCardsiTBX6
MIMi122600 phenotype
602427 gene
neXtProtiNX_O95947
OpenTargetsiENSG00000149922
Orphaneti1797 Autosomal dominant spondylocostal dysostosis
PharmGKBiPA36368
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG101171
InParanoidiO95947
KOiK10180
OMAiSAEAYLM
PhylomeDBiO95947
TreeFamiTF106341

Miscellaneous databases

GenomeRNAii6911
PROiPR:O95947
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiTBX6_HUMAN
AccessioniPrimary (citable) accession number: O95947
Secondary accession number(s): Q8TAS4, Q9HA44
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: November 7, 2018
This is version 167 of the entry and version 2 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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