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Aliases for TBX22 Gene

Aliases for TBX22 Gene

  • T-Box 22 2 3 5
  • T-Box Protein 22 3 4
  • Cleft Palate And/Or Ankyloglossia 2
  • DJ795G23.1 3
  • TBOX22 4
  • ABERS 3
  • TBXX 3
  • CLPA 3
  • CPX 3

External Ids for TBX22 Gene

Previous HGNC Symbols for TBX22 Gene

  • CPX
  • CLPA

Previous GeneCards Identifiers for TBX22 Gene

  • GC0XP074823
  • GC0XP076231
  • GC0XP077311
  • GC0XP078033
  • GC0XP079083
  • GC0XP079270
  • GC0XP072851

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 abruzzo-erickson syndrome and cleft palate with ankyloglossia. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. 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

Regulatory Elements for TBX22 Gene

Genomic Location for TBX22 Gene

Chromosome:
X
Start:
80,014,728 bp from pter
End:
80,035,828 bp from pter
Size:
21,101 bases
Orientation:
Plus strand

Genomic View for TBX22 Gene

Genes around TBX22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for TBX22 Gene

Domains & Families for TBX22 Gene

Gene Families for TBX22 Gene

Protein Domains for TBX22 Gene

Suggested Antigen Peptide Sequences for TBX22 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y458

UniProtKB/Swiss-Prot:

TBX22_HUMAN :
  • Contains 1 T-box DNA-binding domain.
Domain:
  • Contains 1 T-box DNA-binding domain.
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: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

Human Phenotype Ontology for TBX22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX22 Gene

MGI Knock Outs for TBX22:

Animal Model Products

miRNA for TBX22 Gene

miRTarBase miRNAs that target TBX22

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
chloroplast 2
cytosol 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TBX22 Gene

Pathways & Interactions 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:0007275 multicellular organism 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 and SIGNOR curated interactions for TBX22 Gene

Drugs & Compounds for TBX22 Gene

No Compound Related Data Available

Transcripts for TBX22 Gene

mRNA/cDNA for TBX22 Gene

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 (x33.7) and Thyroid (x15.5).

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 expression patterns with TBX22: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TBX22 Gene

Orthologs for TBX22 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX22 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBX22 35
  • 85.52 (n)
  • 81.8 (a)
TBX22 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx22 35
  • 81.4 (n)
  • 73.06 (a)
Tbx22 16
Tbx22 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBX22 35
  • 98.57 (n)
  • 97.96 (a)
TBX22 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbx22 35
  • 81.88 (n)
  • 74.27 (a)
oppossum
(Monodelphis domestica)
Mammalia TBX22 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX22 35
  • 66.94 (n)
  • 67.83 (a)
TBX22 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX22 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx22 35
  • 67.2 (n)
  • 65.27 (a)
zebrafish
(Danio rerio)
Actinopterygii tbx22 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Doc2 37
  • 53 (a)
Doc3 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea mab-9 37
  • 53 (a)
mls-1 36
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(8) 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
VAR_015383 Cleft palate with or without ankyloglossia, X-linked (CPX)
VAR_015384 Cleft palate with or without ankyloglossia, X-linked (CPX)
VAR_021829 Cleft palate with or without ankyloglossia, X-linked (CPX)
rs28935177 Cleft palate with or without ankyloglossia, X-linked (CPX) 80,026,860(+) ACCAA(A/T)ACCAA reference, missense
VAR_021831 Cleft palate with or without ankyloglossia, X-linked (CPX)

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

Variant ID Type Subtype PubMed ID
nsv521266 CNV Gain 19592680

Variation tolerance for TBX22 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX22 Gene

HapMap Linkage Disequilibrium report
TBX22
Human Gene Mutation Database (HGMD)
TBX22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX22 Gene

Disorders for TBX22 Gene

MalaCards: The human disease database

(18) MalaCards diseases for TBX22 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
abruzzo-erickson syndrome
  • abruzzo erickson syndrome
cleft palate with ankyloglossia
  • cpx
x-linked cleft palate and ankyloglossia
chondrodysplasia punctata, x-linked dominant
  • cartilage-hair hypoplasia
mend syndrome
  • male ebp disorder with neurological defects
- elite association - COSMIC cancer census association via MalaCards
Search TBX22 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBX22_HUMAN
  • 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.
  • 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.

Relevant External Links for TBX22

Genetic Association Database (GAD)
TBX22
Human Genome Epidemiology (HuGE) Navigator
TBX22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX22
genes like me logo Genes that share disorders with TBX22: view

No data available for Genatlas for TBX22 Gene

Publications for TBX22 Gene

  1. TBX22 mutations are a frequent cause of cleft palate. (PMID: 14729838) Marcano A.C.B. … Stanier P. (J. Med. Genet. 2004) 2 3 4 67
  2. 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
  3. Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family. (PMID: 15602089) Chaabouni M. … Chaabouni H. (Clin. Dysmorphol. 2005) 3 23
  4. 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 23
  5. 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

Products for TBX22 Gene

Sources for TBX22 Gene

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