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Aliases for TBX4 Gene

Aliases for TBX4 Gene

  • T-Box 4 2 3 5
  • T-Box Protein 4 3 4
  • T-Box Transcription Factor TBX4 3
  • ICPPS 3
  • SPS 3

External Ids for TBX4 Gene

Previous GeneCards Identifiers for TBX4 Gene

  • GC17P059297
  • GC17P062019
  • GC17P059875
  • GC17P060008
  • GC17P056888
  • GC17P059533
  • GC17P054900

Summaries for TBX4 Gene

Entrez Gene Summary for TBX4 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]

GeneCards Summary for TBX4 Gene

TBX4 (T-Box 4) is a Protein Coding gene. Diseases associated with TBX4 include Small Patella Syndrome and Heritable Pulmonary Arterial Hypertension. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is TBX5.

UniProtKB/Swiss-Prot for TBX4 Gene

  • Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX4 Gene

Genomics for TBX4 Gene

Regulatory Elements for TBX4 Gene

Enhancers for TBX4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G061249 3.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 9.9 -192.8 -192791 5.3 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 FEZF1 ZBTB7B YY1 ZNF143 FOS TBX4 LOC101927855 NACA2 GC17P061246 GC17P061257 GC17P061247
GH17G061393 2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -39.1 -39143 24.1 HDGF FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 TBX2-AS1 TBX2 TBX4 APPBP2 PPM1D C17orf82 LOC101927855
GH17G061314 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -130.3 -130294 1.8 SOX13 CTCF PKNOX1 ARID4B SIN3A FEZF1 NFXL1 RAD21 ZSCAN5C SMC3 TBX4 LOC101927855 GC17P061299 GC17P061333
GH17G061489 1.2 Ensembl ENCODE 11.8 +45.5 45542 2.1 FOXA2 ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 FOS ZNF263 SP5 REST APPBP2 MED13 INTS2 PPM1D TBX4 NACA2 ENSG00000267137
GH17G061494 1.2 Ensembl ENCODE 11.5 +51.3 51276 3.5 HDGF PKNOX1 FOXA2 FEZF1 DMAP1 ZNF48 ZNF121 SLC30A9 CBX5 FOS TBX4 NACA2 ENSG00000267137
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBX4 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBX4 Gene

61,444,626 bp from pter
61,485,110 bp from pter
40,485 bases
Plus strand

Genomic View for TBX4 Gene

Genes around TBX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX4 Gene

Proteins for TBX4 Gene

  • Protein details for TBX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    T-box transcription factor TBX4
    Protein Accession:
    Secondary Accessions:
    • A5PKU7
    • B2RMT1
    • B7ZLV3

    Protein attributes for TBX4 Gene

    545 amino acids
    Molecular mass:
    60204 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TBX4 Gene


neXtProt entry for TBX4 Gene

Post-translational modifications for TBX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX4 Gene

No data available for DME Specific Peptides for TBX4 Gene

Domains & Families for TBX4 Gene

Gene Families for TBX4 Gene

Suggested Antigen Peptide Sequences for TBX4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBX4: view

No data available for UniProtKB/Swiss-Prot for TBX4 Gene

Function for TBX4 Gene

Molecular function for TBX4 Gene

UniProtKB/Swiss-Prot Function:
Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

Gene Ontology (GO) - Molecular Function for TBX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 15106123
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 10945475
genes like me logo Genes that share ontologies with TBX4: view
genes like me logo Genes that share phenotypes with TBX4: view

Human Phenotype Ontology for TBX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX4 Gene

MGI Knock Outs for TBX4:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TBX4 Gene

Localization for TBX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX4 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for TBX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TBX4: view

Pathways & Interactions for TBX4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0002009 morphogenesis of an epithelium IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10945475
GO:0007275 multicellular organism development NAS 10945475
genes like me logo Genes that share ontologies with TBX4: view

No data available for Pathways by source and SIGNOR curated interactions for TBX4 Gene

Drugs & Compounds for TBX4 Gene

No Compound Related Data Available

Transcripts for TBX4 Gene

mRNA/cDNA for TBX4 Gene

Unigene Clusters for TBX4 Gene

T-box 4:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBX4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - - - -
SP2: - - -
SP4: -

Relevant External Links for TBX4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX4 Gene

This gene is overexpressed in Lung (x27.6), Bladder (x8.4), and Prostate (x8.2).

Protein differential expression in normal tissues from HIPED for TBX4 Gene

This gene is overexpressed in Bone (52.7) and Tlymphocyte (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBX4 Gene

Protein tissue co-expression partners for TBX4 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBX4 Gene:


SOURCE GeneReport for Unigene cluster for TBX4 Gene:


Evidence on tissue expression from TISSUES for TBX4 Gene

  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBX4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeleton
Head and neck:
  • brain
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • aorta
  • heart
  • heart valve
  • lung
  • pelvis
  • ankle
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shin
  • thigh
  • tibia
  • toe
  • upper limb
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with TBX4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TBX4 Gene

Orthologs for TBX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TBX4 34 35
  • 99.33 (n)
(Canis familiaris)
Mammalia TBX4 34 35
  • 90.4 (n)
(Bos Taurus)
Mammalia TBX4 34 35
  • 89.72 (n)
(Mus musculus)
Mammalia Tbx4 34 16 35
  • 88.87 (n)
(Rattus norvegicus)
Mammalia Tbx4 34
  • 88.42 (n)
(Ornithorhynchus anatinus)
Mammalia TBX4 35
  • 88 (a)
(Monodelphis domestica)
Mammalia TBX4 35
  • 80 (a)
(Gallus gallus)
Aves TBX4 34 35
  • 79.78 (n)
(Anolis carolinensis)
Reptilia TBX4 35
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx4 34
  • 74.34 (n)
(Danio rerio)
Actinopterygii tbx4 34 35
  • 63.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta Doc1 36 35
  • 55 (a)
Doc2 36 35
  • 54 (a)
Doc3 36 35
  • 54 (a)
(Caenorhabditis elegans)
Secernentea mab-9 36
  • 52 (a)
tbx-8 36
  • 40 (a)
tbx-9 36
  • 38 (a)
Species where no ortholog for TBX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBX4 Gene

Gene Tree for TBX4 (if available)
Gene Tree for TBX4 (if available)

Paralogs for TBX4 Gene

Paralogs for TBX4 Gene

(10) SIMAP similar genes for TBX4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TBX4: view

Variants for TBX4 Gene

Sequence variations from dbSNP and Humsavar for TBX4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs28936696 Pathogenic, Ischiocoxopodopatellar syndrome (ICPPS) [MIM:147891] 61,483,470(+) CTTAC(A/G)GTACC reference, missense
rs28938474 Pathogenic, Ischiocoxopodopatellar syndrome (ICPPS) [MIM:147891] 61,479,921(+) CAAGG(G/T)ATTCC reference, missense
rs104894648 Pathogenic 61,456,674(+) CGGAG(C/T)AGGTA reference, stop-gained
rs117324438 Likely benign 61,483,390(+) AGGAA(A/G)CCACC reference, synonymous-codon
rs117410176 Likely benign 61,456,506(+) ATAAG(A/G)GCCTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TBX4 Gene

Variant ID Type Subtype PubMed ID
dgv43n68 CNV loss 17160897
nsv2113 CNV insertion 18451855

Variation tolerance for TBX4 Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.21; 93.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX4 Gene

Disorders for TBX4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TBX4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
small patella syndrome
  • congenital coxa vara, patella aplasia and tarsal synostosis
heritable pulmonary arterial hypertension
  • familial pulmonary arterial hypertension
chromosome 17q23.1-q23.2 deletion syndrome
  • 17q23.1-q23.2 microdeletion syndrome
chromosome 17q23.1-q23.2 duplication syndrome
  • familial clubfoot due to 17q23.1q23.2 microduplication
  • congenital clubfoot
- elite association - COSMIC cancer census association via MalaCards
Search TBX4 in MalaCards View complete list of genes associated with diseases


  • Ischiocoxopodopatellar syndrome (ICPPS) [MIM:147891]: An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. {ECO:0000269 PubMed:15106123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBX4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TBX4: view

No data available for Genatlas for TBX4 Gene

Publications for TBX4 Gene

  1. Virtual cloning and physical mapping of a human T-box gene, TBX4. (PMID: 10945475) Yi C.H. … Brook J.D. (Genomics 2000) 2 3 4 22 64
  2. Mutations in the human TBX4 gene cause small patella syndrome. (PMID: 15106123) Bongers E.M.H.F. … van Bokhoven H. (Am. J. Hum. Genet. 2004) 3 4 22 64
  3. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim J.J. … Lee J.K. (J. Hum. Genet. 2010) 3 46 64
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64

Products for TBX4 Gene

Sources for TBX4 Gene

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