TBX18

Protein identityUniProt · HPA

UniProt accession

O95935

Gene

TBX18

Ensembl

ENSG00000112837

Chromosome

6

Canonical length

607 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

607 residues, UniProt reviewed canonical sequence.

>O95935|TBX18
     1  MAEKRRGSPC SMLSLKAHAF SVEALIGAEK QQQLQKKRRK LGAEEAAGAV DDGGCSRGGG
    61  AGEKGSSEGD EGAALPPPAG ATSGPARSGA DLERGAAGGC EDGFQQGASP LASPGGSPKG
   121  SPARSLARPG TPLPSPQAPR VDLQGAELWK RFHEIGTEMI ITKAGRRMFP AMRVKISGLD
   181  PHQQYYIAMD IVPVDNKRYR YVYHSSKWMV AGNADSPVPP RVYIHPDSPA SGETWMRQVI
   241  SFDKLKLTNN ELDDQGHIIL HSMHKYQPRV HVIRKDCGDD LSPIKPVPSG EGVKAFSFPE
   301  TVFTTVTAYQ NQQITRLKID RNPFAKGFRD SGRNRMGLEA LVESYAFWRP SLRTLTFEDI
   361  PGIPKQGNAS SSTLLQGTGN GVPATHPHLL SGSSCSSPAF HLGPNTSQLC SLAPADYSAC
   421  ARSGLTLNRY STSLAETYNR LTNQAGETFA PPRTPSYVGV SSSTSVNMSM GGTDGDTFSC
   481  PQTSLSMQIS GMSPQLQYIM PSPSSNAFAT NQTHQGSYNT FRLHSPCALY GYNFSTSPKL
   541  AASPEKIVSS QGSFLGSSPS GTMTDRQMLP PVEGVHLLSS GGQQSFFDSR TLGSLTLSSS
   601  QVSAHMV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX18 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.57

Highest tissue expression

34 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX18.

Disease | AllUniProt

Conditions TBX18 is implicated in, by any mechanism.

• Congenital anomalies of kidney and urinary tract 2 (CAKUT2) MIM:143400

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 259 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital anomalies of kidney and urinary tract 2
• Congenital anomaly of kidney and urinary tract

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.19

gnomAD pLI

1

gnomAD missense Z

0.1

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell fate specification
• cochlea morphogenesis
• morphogenesis of embryonic epithelium
• negative regulation of canonical Wnt signaling pathway
• negative regulation of transcription by RNA polymerase II
• neural plate anterior/posterior regionalization
• positive regulation of DNA-templated transcription
• regulation of SA node cell action potential
• regulation of transcription by RNA polymerase II
• sinoatrial node cell development
• sinoatrial node development
• smooth muscle cell differentiation
• somitogenesis
• ureter development
• sinoatrial node cell fate commitment

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• protein homodimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleoplasm
• nucleus
• RNA polymerase II transcription repressor complex

Protein domainsUniProt · Pfam · InterPro

• T-box transcription factor
• p53-like transcription factor, DNA-binding domain superfamily
• Transcription factor, T-box, conserved site
• T-box superfamily
• T-box transcription factor, DNA-binding domain
• T-box

KeywordsUniProt

• Developmental protein
• DNA-binding
• Nucleus
• Repressor
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of TBX18 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GATA4
• NKX2-5
• PAX3
• SIX1
• TLE3