TBX4

Protein identityUniProt · HPA

UniProt accession

P57082

Gene

TBX4

Ensembl

ENSG00000121075

Chromosome

17

Canonical length

545 aa

Protein class

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

Subcellular location

Vesicles

OverviewNCBI Gene

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

545 residues, UniProt reviewed canonical sequence.

>P57082|TBX4
     1  MLQDKGLSES EEAFRAPGPA LGEASAANAP EPALAAPGLS GAALGSPPGP GADVVAAAAA
    61  EQTIENIKVG LHEKELWKKF HEAGTEMIIT KAGRRMFPSY KVKVTGMNPK TKYILLIDIV
   121  PADDHRYKFC DNKWMVAGKA EPAMPGRLYV HPDSPATGAH WMRQLVSFQK LKLTNNHLDP
   181  FGHIILNSMH KYQPRLHIVK ADENNAFGSK NTAFCTHVFP ETSFISVTSY QNHKITQLKI
   241  ENNPFAKGFR GSDDSDLRVA RLQSKEYPVI SKSIMRQRLI SPQLSATPDV GPLLGTHQAL
   301  QHYQHENGAH SQLAEPQDLP LSTFPTQRDS SLFYHCLKRR DGTRHLDLPC KRSYLEAPSS
   361  VGEDHYFRSP PPYDQQMLSP SYCSEVTPRE ACMYSGSGPE IAGVSGVDDL PPPPLSCNMW
   421  TSVSPYTSYS VQTMETVPYQ PFPTHFTATT MMPRLPTLSA QSSQPPGNAH FSVYNQLSQS
   481  QVRERGPSAS FPRERGLPQG CERKPPSPHL NAANEFLYSQ TFSLSRESSL QYHSGMGTVE
   541  NWTDG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX4 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)

0.58

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX4.

Disease | AllUniProt

Conditions TBX4 is implicated in, by any mechanism.

• Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) MIM:147891
• Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome (PAPPAS) MIM:601360

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 361 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Coxopodopatellar syndrome
• Pulmonary hypertension, primary, 1
• Pulmonary arterial hypertension
• Pulmonary arterial hypertension associated with congenital heart disease
• Autosomal recessive amelia

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)

0.45

gnomAD pLI

0.5

gnomAD missense Z

0.87

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• angiogenesis
• cell fate specification
• embryonic hindlimb morphogenesis
• embryonic lung development
• limb morphogenesis
• lung development
• morphogenesis of an epithelium
• positive regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II
• skeletal system morphogenesis

Molecular functions

• DNA binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

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
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of TBX4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PDLIM7