TBX18

Functionⁱ

Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.By similarity1 Publication

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	143 – 330	T-boxPROSITE-ProRule annotationAdd BLAST		188

GO - Molecular functionⁱ

protein heterodimerization activity Source: BHF-UCL
protein homodimerization activity Source: BHF-UCL
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
transcription corepressor activity Source: BHF-UCL
transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation Source: BHF-UCL
renal system development
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 26235987
transcription, DNA-templated Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding, Repressor
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORⁱ	O95935

SIGNORⁱ

O95935

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: T-box transcription factor TBX18 Short name: T-box protein 18
Gene namesⁱ	Name:TBX18
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000112837.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11595 TBX18
MIMⁱ	604613 gene
neXtProtⁱ	NX_O95935

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Congenital anomalies of kidney and urinary tract 2 (CAKUT2)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_074629	163	K → E in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; does not bind DNA; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs797045022EnsemblClinVar.		1
Natural variantⁱVAR_074631	524	H → Y in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; no effect on DNA binding; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs760905589EnsemblClinVar.		1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	9096
MalaCards human disease database More...MalaCardsⁱ	TBX18
MIMⁱ	143400 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000112837
PharmGKBⁱ	PA36358

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000184446	1 – 607	T-box transcription factor TBX18Add BLAST		607

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O95935
PaxDbⁱ	O95935
PeptideAtlas More...PeptideAtlasⁱ	O95935
PRIDEⁱ	O95935
ProteomicsDBⁱ	51134

PTM databases

iPTMnetⁱ	O95935
PhosphoSitePlusⁱ	O95935

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000112837
CleanExⁱ	HS_TBX18
ExpressionAtlasⁱ	O95935 baseline and differential
Genevisibleⁱ	O95935 HS

Interactionⁱ

Subunit structureⁱ

Homodimer. Can form a heterodimer with TBX15. Interacts with GATA4 AND NKX2-5. Interacts with PAX3 (By similarity). Interacts (via engrailed homology 1 repressor motif) with TLE3; this interaction represses TBX18 transcriptional activity (By similarity) (PubMed:26235987). Interacts with SIX1 (PubMed:26235987).By similarity1 Publication

GO - Molecular functionⁱ

protein heterodimerization activity Source: BHF-UCL
protein homodimerization activity Source: BHF-UCL

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	114550, 2 interactors
CORUMⁱ	O95935
IntActⁱ	O95935, 5 interactors
STRINGⁱ	9606.ENSP00000358677

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O95935
SMRⁱ	O95935
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	18 – 28	Engrailed homology 1 repressorCuratedAdd BLAST		11
Motifⁱ	36 – 40	Nuclear localization signalCurated		5

Phylogenomic databases

eggNOGⁱ	KOG3586 Eukaryota ENOG410Y98J LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118897
HOGENOMⁱ	HOG000039966
HOVERGENⁱ	HBG055831
InParanoidⁱ	O95935
KEGG Orthology (KO) More...KOⁱ	K10183
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0I8R
PhylomeDBⁱ	O95935
TreeFamⁱ	TF106341

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00182 TBOX, 1 hit
Gene3Dⁱ	2.60.40.820, 1 hit
InterProⁱ	View protein in InterPro IPR008967 p53-like_TF_DNA-bd IPR036960 T-box_sf IPR001699 TF_T-box IPR018186 TF_T-box_CS
PANTHERⁱ	PTHR11267 PTHR11267, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00907 T-box, 1 hit
PRINTSⁱ	PR00937 TBOX
SMARTⁱ	View protein in SMART SM00425 TBOX, 1 hit
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS01283 TBOX_1, 1 hit PS01264 TBOX_2, 1 hit PS50252 TBOX_3, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

O95935-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MAEKRRGSPC SMLSLKAHAF SVEALIGAEK QQQLQKKRRK LGAEEAAGAV 
        60         70         80         90        100
DDGGCSRGGG AGEKGSSEGD EGAALPPPAG ATSGPARSGA DLERGAAGGC 
       110        120        130        140        150
EDGFQQGASP LASPGGSPKG SPARSLARPG TPLPSPQAPR VDLQGAELWK 
       160        170        180        190        200
RFHEIGTEMI ITKAGRRMFP AMRVKISGLD PHQQYYIAMD IVPVDNKRYR 
       210        220        230        240        250
YVYHSSKWMV AGNADSPVPP RVYIHPDSPA SGETWMRQVI SFDKLKLTNN 
       260        270        280        290        300
ELDDQGHIIL HSMHKYQPRV HVIRKDCGDD LSPIKPVPSG EGVKAFSFPE 
       310        320        330        340        350
TVFTTVTAYQ NQQITRLKID RNPFAKGFRD SGRNRMGLEA LVESYAFWRP 
       360        370        380        390        400
SLRTLTFEDI PGIPKQGNAS SSTLLQGTGN GVPATHPHLL SGSSCSSPAF 
       410        420        430        440        450
HLGPNTSQLC SLAPADYSAC ARSGLTLNRY STSLAETYNR LTNQAGETFA 
       460        470        480        490        500
PPRTPSYVGV SSSTSVNMSM GGTDGDTFSC PQTSLSMQIS GMSPQLQYIM 
       510        520        530        540        550
PSPSSNAFAT NQTHQGSYNT FRLHSPCALY GYNFSTSPKL AASPEKIVSS 
       560        570        580        590        600
QGSFLGSSPS GTMTDRQMLP PVEGVHLLSS GGQQSFFDSR TLGSLTLSSS 

QVSAHMV

Length:607

Mass (Da):64,753

Last modified:May 10, 2004 - v3

Checksum:ⁱAFDCE41154CA55DA

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_052263	48	G → R1 PublicationCorresponds to variant dbSNP:rs172562Ensembl.	1
Natural variantⁱVAR_074629	163	K → E in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; does not bind DNA; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs797045022EnsemblClinVar.	1
Natural variantⁱVAR_074630	164	A → T1 Publication	1
Natural variantⁱVAR_074631	524	H → Y in CAKUT2; results in decreased transcriptional repression through a dominant negative effect; does not affect nuclear localization; no effect on DNA binding; no effect on interaction with SIX1; no effect on interaction with TLE3. 1 PublicationCorresponds to variant dbSNP:rs760905589EnsemblClinVar.	1
Natural variantⁱVAR_074632	526	P → S1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AL035694 Genomic DNA No translation available. BC132715 mRNA Translation: AAI32716.1 BC157841 mRNA Translation: AAI57842.1 AJ010278 mRNA Translation: CAB37937.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34495.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001073977.1, NM_001080508.2
UniGeneⁱ	Hs.251830

Genome annotation databases

Ensemblⁱ	ENST00000369663; ENSP00000358677; ENSG00000112837
GeneIDⁱ	9096
KEGGⁱ	hsa:9096
UCSC genome browser More...UCSCⁱ	uc003pkl.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
O95935	TBX18 (Fragment)		MACMU		240
TBX18 (Fragment)		PANTR		240
TBX18 (Fragment)		ATEGE		240
TBX18 (Fragment)		PANPA		240
TBX18 (Fragment)		MACNE		240
+3

Protein	Similar proteins		Species	Score	Length
O95935	TBX18 (Fragment)		MACMU		240
TBX18 (Fragment)		PANTR		240
TBX18 (Fragment)		ATEGE		240
TBX18 (Fragment)		PANPA		240
TBX18 (Fragment)		MACNE		240
+50

Protein	Similar proteins		Species	Score	Length
O95935	TBX18 (Fragment)		MACMU		240
TBX18 (Fragment)		PANTR		240
TBX18 (Fragment)		ATEGE		240
TBX18 (Fragment)		PANPA		240
TBX18 (Fragment)		MACNE		240
+114

Cross-referencesⁱ

Web resourcesⁱ

Protein Spotlight

At the heart of things - Issue 165 of November 2014

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AL035694 Genomic DNA No translation available. BC132715 mRNA Translation: AAI32716.1 BC157841 mRNA Translation: AAI57842.1 AJ010278 mRNA Translation: CAB37937.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34495.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001073977.1, NM_001080508.2
UniGeneⁱ	Hs.251830

3D structure databases

ProteinModelPortalⁱ	O95935
SMRⁱ	O95935
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114550, 2 interactors
CORUMⁱ	O95935
IntActⁱ	O95935, 5 interactors
STRINGⁱ	9606.ENSP00000358677

PTM databases

iPTMnetⁱ	O95935
PhosphoSitePlusⁱ	O95935

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O95935
PaxDbⁱ	O95935
PeptideAtlas More...PeptideAtlasⁱ	O95935
PRIDEⁱ	O95935
ProteomicsDBⁱ	51134

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	9096
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000369663; ENSP00000358677; ENSG00000112837
GeneIDⁱ	9096
KEGGⁱ	hsa:9096
UCSC genome browser More...UCSCⁱ	uc003pkl.4 human

Organism-specific databases

CTDⁱ	9096
DisGeNET More...DisGeNETⁱ	9096
EuPathDBⁱ	HostDB:ENSG00000112837.16
GeneCardsⁱ	TBX18
H-InvDBⁱ	HIX0032809
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11595 TBX18
MalaCards human disease database More...MalaCardsⁱ	TBX18
MIMⁱ	143400 phenotype 604613 gene
neXtProtⁱ	NX_O95935
Open Targets More...OpenTargetsⁱ	ENSG00000112837
PharmGKBⁱ	PA36358
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3586 Eukaryota ENOG410Y98J LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118897
HOGENOMⁱ	HOG000039966
HOVERGENⁱ	HBG055831
InParanoidⁱ	O95935
KEGG Orthology (KO) More...KOⁱ	K10183
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0I8R
PhylomeDBⁱ	O95935
TreeFamⁱ	TF106341

Enzyme and pathway databases

SIGNORⁱ	O95935

SIGNORⁱ

O95935

Miscellaneous databases

ChiTaRSⁱ	TBX18 human
GenomeRNAiⁱ	9096
Protein Ontology More...PROⁱ	PR:O95935
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000112837
CleanExⁱ	HS_TBX18
ExpressionAtlasⁱ	O95935 baseline and differential
Genevisibleⁱ	O95935 HS

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00182 TBOX, 1 hit
Gene3Dⁱ	2.60.40.820, 1 hit
InterProⁱ	View protein in InterPro IPR008967 p53-like_TF_DNA-bd IPR036960 T-box_sf IPR001699 TF_T-box IPR018186 TF_T-box_CS
PANTHERⁱ	PTHR11267 PTHR11267, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00907 T-box, 1 hit
PRINTSⁱ	PR00937 TBOX
SMARTⁱ	View protein in SMART SM00425 TBOX, 1 hit
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS01283 TBOX_1, 1 hit PS01264 TBOX_2, 1 hit PS50252 TBOX_3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TBX18_HUMAN
Accessionⁱ	O95935Primary (citable) accession number: O95935 Secondary accession number(s): A2RU13, Q7Z6U4, Q9UJI6
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
	Last sequence update:	May 10, 2004
	Last modified:	July 18, 2018
	This is version 147 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - O95935 (TBX18_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

T-box transcription factor TBX18

Select a section on the left to see content.

<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

Regions

<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

<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 - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

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

Organism-specific databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

<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>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

Protein-protein interaction databases

<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

<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

Motif

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ