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Aliases for TBX22 Gene

Aliases for TBX22 Gene

  • T-Box 22 2 3
  • T-Box Protein 22 3 4
  • ABERS 3 6
  • CPX 3 6
  • Cleft Palate And/Or Ankyloglossia 2
  • T-Box Transcription Factor TBX22 3
  • DJ795G23.1 3
  • TBOX22 4
  • TBXX 3
  • CLPA 3

External Ids for TBX22 Gene

Previous Symbols for TBX22 Gene

  • CPX
  • CLPA

Summaries for TBX22 Gene

Entrez Gene Summary for TBX22 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. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TBX22 Gene

TBX22 (T-Box 22) is a Protein Coding gene. Diseases associated with TBX22 include cleft palate with ankyloglossia and abruzzo-erickson 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 TBX22 Gene

  • Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis

Gene Wiki entry for TBX22 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX22 Gene

Genomics for TBX22 Gene

Genomic Location for TBX22 Gene

Start:
80,014,756 bp from pter
End:
80,035,752 bp from pter
Size:
20,997 bases
Orientation:
Plus strand

Genomic View for TBX22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBX22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX22 Gene

Regulatory Elements for TBX22 Gene

Proteins for TBX22 Gene

  • Protein details for TBX22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y458-TBX22_HUMAN
    Recommended name:
    T-box transcription factor TBX22
    Protein Accession:
    Q9Y458
    Secondary Accessions:
    • Q5JZ06
    • Q96LC0
    • Q9HBF1

    Protein attributes for TBX22 Gene

    Size:
    520 amino acids
    Molecular mass:
    57910 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TBX22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBX22 Gene

Proteomics data for TBX22 Gene at MOPED

Post-translational modifications for TBX22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX22 Gene

No data available for DME Specific Peptides for TBX22 Gene

Domains for TBX22 Gene

Gene Families for TBX22 Gene

HGNC:

Protein Domains for TBX22 Gene

UniProtKB/Swiss-Prot:

TBX22_HUMAN
Domain:
  • Contains 1 T-box DNA-binding domain.:
    • Q9Y458
genes like me logo Genes that share domains with TBX22: view

Function for TBX22 Gene

Molecular function for TBX22 Gene

UniProtKB/Swiss-Prot Function: Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis

Gene Ontology (GO) - Molecular Function for TBX22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 17846996
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 11024289
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TBX22: view
genes like me logo Genes that share phenotypes with TBX22: view

Animal Models for TBX22 Gene

MGI Knock Outs for TBX22:

miRNA for TBX22 Gene

miRTarBase miRNAs that target TBX22

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TBX22 Gene

Localization for TBX22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX22 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX22 Gene COMPARTMENTS Subcellular localization image for TBX22 gene
Compartment Confidence
nucleus 5
cytosol 2
chloroplast 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TBX22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17846996
genes like me logo Genes that share ontologies with TBX22: view

Pathways for TBX22 Gene

SuperPathways for TBX22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBX22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 17846996
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 11024289
GO:0007275 multicellular organismal development TAS 11024289
GO:0045892 negative regulation of transcription, DNA-templated IDA 17846996
genes like me logo Genes that share ontologies with TBX22: view

No data available for Pathways by source for TBX22 Gene

Transcripts for TBX22 Gene

mRNA/cDNA for TBX22 Gene

(10) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBX22 Gene

T-box 22:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX22 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: -
SP2: -
SP3:

Relevant External Links for TBX22 Gene

GeneLoc Exon Structure for
TBX22
ECgene alternative splicing isoforms for
TBX22

Expression for TBX22 Gene

mRNA expression in normal human tissues for TBX22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX22 Gene

This gene is overexpressed in Testis (33.7) and Thyroid (15.5).

SOURCE GeneReport for Unigene cluster for TBX22 Gene Hs.374253

mRNA Expression by UniProt/SwissProt for TBX22 Gene

Q9Y458-TBX22_HUMAN
Tissue specificity: Seems to be expressed at a low level
genes like me logo Genes that share expressions with TBX22: view

Orthologs for TBX22 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX22 36
  • 98.57 (n)
  • 97.96 (a)
TBX22 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX22 36
  • 85.52 (n)
  • 81.8 (a)
TBX22 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx22 36
  • 81.4 (n)
  • 73.06 (a)
Tbx22 16
Tbx22 37
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX22 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx22 36
  • 81.88 (n)
  • 74.27 (a)
chicken
(Gallus gallus)
Aves TBX22 36
  • 66.94 (n)
  • 67.83 (a)
TBX22 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX22 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx22 36
  • 67.2 (n)
  • 65.27 (a)
zebrafish
(Danio rerio)
Actinopterygii tbx22 37
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Doc3 38
  • 51 (a)
Doc2 38
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea mls-1 37
  • 48 (a)
OneToMany
mab-9 38
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 22 (a)
OneToMany
Species with no ortholog for TBX22:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 TBX22 Gene

ENSEMBL:
Gene Tree for TBX22 (if available)
TreeFam:
Gene Tree for TBX22 (if available)

Paralogs for TBX22 Gene

Paralogs for TBX22 Gene

Selected SIMAP similar genes for TBX22 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBX22: view

Variants for TBX22 Gene

Sequence variations from dbSNP and Humsavar for TBX22 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs168998 -- 80,022,721(-) ATACA(A/G)CAGCC intron-variant
rs181992 -- 80,022,788(-) GGAGA(A/C)GTTGA intron-variant
rs195287 -- 80,035,593(-) ATGTA(A/T)TCAAT utr-variant-3-prime
rs195288 -- 80,033,468(-) GATTT(C/T)ATAAA intron-variant, downstream-variant-500B
rs195289 -- 80,033,056(-) TTACT(C/T)AGAAG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TBX22 Gene

Variant ID Type Subtype PubMed ID
nsv521266 CNV Gain 19592680

Relevant External Links for TBX22 Gene

HapMap Linkage Disequilibrium report
TBX22
Human Gene Mutation Database (HGMD)
TBX22
Locus Specific Mutation Databases (LSDB)
TBX22

Disorders for TBX22 Gene

(2) OMIM Diseases for TBX22 Gene (300307)

UniProtKB/Swiss-Prot

TBX22_HUMAN
  • Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. {ECO:0000269 PubMed:11559848, ECO:0000269 PubMed:12374769, ECO:0000269 PubMed:14729838}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. {ECO:0000269 PubMed:22784330}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TBX22 Gene

(2) Novoseek inferred disease relationships for TBX22 Gene

Disease -log(P) Hits PubMed IDs
ankyloglossia 96 4
cleft palate 81.6 8

Relevant External Links for TBX22

Genetic Association Database (GAD)
TBX22
Human Genome Epidemiology (HuGE) Navigator
TBX22
genes like me logo Genes that share disorders with TBX22: view

Publications for TBX22 Gene

  1. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. (PMID: 12374769) Braybrook C. … Lindsay S. (Hum. Mol. Genet. 2002) 3 4 23
  2. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. (PMID: 11559848) Braybrook C. … Stanier P. (Nat. Genet. 2001) 2 3 4
  3. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. (PMID: 17868388) Suphapeetiporn K. … Shotelersuk V. (Clin. Genet. 2007) 3 23 49
  4. TBX22 mutations are a frequent cause of cleft palate. (PMID: 14729838) Marcano A.C.B. … Stanier P. (J. Med. Genet. 2004) 2 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TBX22 Gene

Sources for TBX22 Gene

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