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Aliases for TBX4 Gene

Aliases for TBX4 Gene

  • T-Box 4 2 3
  • T-Box Protein 4 3 4
  • T-Box Transcription Factor TBX4 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 stiff-person syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX20.

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 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

Genomic Location for TBX4 Gene

Start:
61,451,773 bp from pter
End:
61,485,110 bp from pter
Size:
33,338 bases
Orientation:
Plus strand

Genomic View for TBX4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P57082-TBX4_HUMAN
    Recommended name:
    T-box transcription factor TBX4
    Protein Accession:
    P57082
    Secondary Accessions:
    • A5PKU7
    • B2RMT1
    • B7ZLV3

    Protein attributes for TBX4 Gene

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

    Alternative splice isoforms for TBX4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX4 Gene

Proteomics data for TBX4 Gene at MOPED

Post-translational modifications for TBX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX4 Gene

Domains for TBX4 Gene

Gene Families for TBX4 Gene

HGNC:

Suggested Antigen Peptide Sequences for TBX4 Gene

Graphical View of Domain Structure for InterPro Entry

P57082

UniProtKB/Swiss-Prot:

TBX4_HUMAN :
  • P57082
Domain:
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBX4: view

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 sequence-specific DNA binding transcription factor activity TAS 10945475
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TBX4: view
genes like me logo Genes that share phenotypes with TBX4: view

Animal Models for TBX4 Gene

MGI Knock Outs for TBX4:

miRNA for TBX4 Gene

miRTarBase miRNAs that target TBX4

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

Localization for TBX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX4 Gene COMPARTMENTS Subcellular localization image for TBX4 gene
Compartment Confidence
nucleus 3
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 for TBX4 Gene

SuperPathways 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 organismal development NAS 10945475
genes like me logo Genes that share ontologies with TBX4: view

No data available for Pathways by source for TBX4 Gene

Transcripts for TBX4 Gene

mRNA/cDNA for TBX4 Gene

Unigene Clusters for TBX4 Gene

T-box 4:
Representative Sequences:

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: - - -
SP3:
SP4: -

Relevant External Links for TBX4 Gene

GeneLoc Exon Structure for
TBX4
ECgene alternative splicing isoforms for
TBX4

Expression for TBX4 Gene

mRNA expression in normal human tissues 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 (27.6), Bladder (8.4), and Prostate (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TBX4 Gene

SOURCE GeneReport for Unigene cluster for TBX4 Gene Hs.143907

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

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
chimpanzee
(Pan troglodytes)
Mammalia TBX4 35
  • 99.33 (n)
  • 99.45 (a)
TBX4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX4 35
  • 89.72 (n)
  • 93.76 (a)
TBX4 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX4 35
  • 90.4 (n)
  • 94.13 (a)
TBX4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx4 35
  • 88.87 (n)
  • 93.58 (a)
Tbx4 16
Tbx4 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX4 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX4 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx4 35
  • 88.42 (n)
  • 93.38 (a)
chicken
(Gallus gallus)
Aves TBX4 35
  • 79.78 (n)
  • 86.52 (a)
TBX4 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX4 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx4 35
  • 74.34 (n)
  • 85.39 (a)
zebrafish
(Danio rerio)
Actinopterygii tbx4 35
  • 63.39 (n)
  • 61.63 (a)
tbx4 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Doc1 36
  • 34 (a)
ManyToMany
Doc2 36
  • 28 (a)
ManyToMany
Doc3 36
  • 30 (a)
ManyToMany
Doc3 37
  • 54 (a)
Doc2 37
  • 54 (a)
Doc1 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea tbx-9 37
  • 38 (a)
tbx-8 37
  • 40 (a)
mab-9 37
  • 52 (a)
Species with no ortholog for TBX4:
  • 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

ENSEMBL:
Gene Tree for TBX4 (if available)
TreeFam:
Gene Tree for TBX4 (if available)

Paralogs for TBX4 Gene

Paralogs for TBX4 Gene

Selected 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 MAF
rs758595 -- 61,467,941(-) TCACA(A/G)CCATG intron-variant
rs758596 -- 61,467,502(-) GCCAA(C/T)AGAGC intron-variant
rs758597 -- 61,466,230(-) ATAGT(C/T)ACCAA intron-variant
rs873363 -- 61,467,968(+) TTTAC(A/C)GGAAG intron-variant
rs1009961 -- 61,467,414(-) CAGAG(A/G)AAAAA intron-variant

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

Relevant External Links for TBX4 Gene

HapMap Linkage Disequilibrium report
TBX4
Human Gene Mutation Database (HGMD)
TBX4

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

Disorders for TBX4 Gene

(1) OMIM Diseases for TBX4 Gene (601719)

UniProtKB/Swiss-Prot

TBX4_HUMAN
  • Small patella syndrome (SPS) [MIM:147891]: Autosomal dominant skeletal dysplasia 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.

(3) University of Copenhagen DISEASES for TBX4 Gene

(1) Novoseek inferred disease relationships for TBX4 Gene

Disease -log(P) Hits PubMed IDs
hypoplasia 37 1

Relevant External Links for TBX4

Genetic Association Database (GAD)
TBX4
Human Genome Epidemiology (HuGE) Navigator
TBX4
genes like me logo Genes that share disorders with TBX4: view

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 23
  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 23
  3. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 48
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 48
  5. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim J.J. … Lee J.K. (J. Hum. Genet. 2010) 3 48

Products for TBX4 Gene

Sources for TBX4 Gene

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