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TBX22 Gene

protein-coding   GIFtS: 53
GCID: GC0XP079270

T-Box 22

(Previous name: cleft palate and/or ankyloglossia)
(Previous symbols: CPX, CLPA)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
T-Box 221 2     Cleft Palate And/Or Ankyloglossia1
CPX1 2 5     TBXX2
CLPA1 2     dJ795G23.12
T-Box Protein 222 3     T-Box Transcription Factor TBX222
ABERS2 5     TBOX223

External Ids:    HGNC: 116001   Entrez Gene: 509452   Ensembl: ENSG000001221457   OMIM: 3003075   UniProtKB: Q9Y4583   

Export aliases for TBX22 gene to outside databases

Previous GC identifers: GC0XP074823 GC0XP076231 GC0XP077311 GC0XP078033 GC0XP079083 GC0XP072851


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 x-linked, and cleft palate. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458
Function: Probable transcriptional regulator involved in developmental processes. This is major determinant
crucial to palatogenesis

Gene Wiki entry for TBX22 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011651.18  NT_187635.1  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBX22 gene promoter:
         C/EBPbeta   SRY   POU2F1   GATA-3   POU2F1a   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBX22 promoter sequence
   Search Chromatin IP Primers for TBX22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBX22


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.1   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

TBX22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX22 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP079270:  view genomic region     (about GC identifiers)

Start:
79,270,255 bp from pter      End:
79,287,268 bp from pter
Size:
17,014 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458 (See protein sequence)
Recommended Name: T-box transcription factor TBX22  
Size: 520 amino acids; 57910 Da
Secondary accessions: Q5JZ06 Q96LC0 Q9HBF1
Alternative splicing: 2 isoforms:  Q9Y458-1   Q9Y458-2   

Explore the universe of human proteins at neXtProt for TBX22: NX_Q9Y458

Explore proteomics data for TBX22 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBX22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001103348.1  NP_001103349.1  NP_058650.1  

    ENSEMBL proteins: 
     ENSP00000362393   ENSP00000362390   ENSP00000362388   ENSP00000396394  

    TBX22 Human Recombinant Protein Products:

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    Novus Biologicals TBX22 Proteins
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    Cloud-Clone Corp. Proteins for TBX22

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    LSBio Antibodies in human, mouse, rat for TBX22

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    Cloud-Clone Corp. CLIAs for TBX22


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TBX: T-boxes

    3 InterPro protein domains:
     IPR001699 TF_T-box
     IPR008967 p53-like_TF_DNA-bd
     IPR018186 TF_T-box_CS

    Graphical View of Domain Structure for InterPro Entry Q9Y458

    ProtoNet protein and cluster: Q9Y458

    1 Blocks protein domain: IPB001699 Transcription factor

    UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458
    Similarity: Contains 1 T-box DNA-binding domain


    TBX22 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBX22_HUMAN, Q9Y458
    Function: Probable transcriptional regulator involved in developmental processes. This is major determinant
    crucial to palatogenesis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA17846996
    GO:0003700sequence-specific DNA binding transcription factor activity TAS11024289
         
    TBX22 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tbx22):
     cellular  craniofacial  digestive/alimentary  mortality/aging  normal 
     respiratory system  skeleton 

    TBX22 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tbx22tm1.1Sta for TBX22

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBX22
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX22
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX22

    miRNA
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    miRTarBase miRNAs that target TBX22:
    hsa-mir-124-3p (MIRT022915), hsa-mir-335-5p (MIRT018409)

    Block miRNA regulation of human, mouse, rat TBX22 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate TBX22:
    hsa-miR-3671 hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidTBX22 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TBX22

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    GenScript: all cDNA clones in your preferred vector (see all 3): TBX22 (NM_016954)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX22

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX22


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBX22_HUMAN, Q9Y458: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    chloroplast1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17846996

    TBX22 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBX22
    Interactions:

        Search GeneGlobe Interaction Network for TBX22

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA17846996
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated TAS11024289
    GO:0007275multicellular organismal development TAS11024289
    GO:0045892negative regulation of transcription, DNA-templated IDA17846996

    TBX22 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBX22



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBX22 gene (3 alternative transcripts): 
    NM_001109878.1  NM_001109879.1  NM_016954.2  

    Unigene Cluster for TBX22:

    T-box 22
    Hs.374253  [show with all ESTs]
    Unigene Representative Sequence: NM_001109878
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373296 ENST00000476373 ENST00000373294(uc004edj.1) ENST00000373291
    ENST00000442340(uc010nmg.1 uc004edi.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat TBX22 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate TBX22:
    hsa-miR-3671 hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidTBX22 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TBX22
    Predesigned siRNA for gene silencing in human, mouse, rat TBX22
    Clone
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    OriGene clones in human, mouse for TBX22 (see all 14)
    OriGene ORF clones in mouse, rat for TBX22
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TBX22 (NM_016954)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX22
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX22
    Primer
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    OriGene qPCR primer pairs and template standards for TBX22
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX22
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX22
      QuantiTect SYBR Green Assays in human, mouse, rat TBX22
      QuantiFast Probe-based Assays in human, mouse, rat TBX22

    Additional mRNA sequence: 

    AF251684.1 AK097514.1 AY035371.1 BC014194.2 

    3 DOTS entries:

    DT.75148119  DT.95365125  DT.305015 

    11 AceView cDNA sequences:

    BC014194 BX115071 NM_016954 AY035371 AW104387 AF251684 AK097514 BF025868 
    AI018657 AA952933 BF376476 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TBX22    About this scheme

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


    ECgene alternative splicing isoforms for TBX22

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TBX22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACAAATA
    TBX22 Expression
    About this image


    TBX22 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Branchial Arch 1
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Pharynx
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (Naive)
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Maxillary Process
     
     Eye (Sensory Organs)
             Periocular Mesenchyme
    TBX22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBX22 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374253

    UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458
    Tissue specificity: Seems to be expressed at a low level

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX22

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBX22 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx221 , 5 T-box 221, 5 81.4(n)1
    73.06(a)1
      X (47.59 cM)5
    2455721  NM_181319.41  NP_851836.21 
     1076679645 
    chicken
    (Gallus gallus)
    Aves TBX221 T-box 22 66.94(n)
    67.83(a)
      373895  NM_204106.1  NP_989437.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBX226
    T-box 22
    68(a)
    1 ↔ 1
    GL343528.1(60476-72975)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbx221 T-box 22 67.2(n)
    65.27(a)
      100494512  XM_002940434.2  XP_002940480.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx226
    T-box 22
    49(a)
    1 ↔ 1
    14(9562996-9572702) ENSDARG00000091748
    worm
    (Caenorhabditis elegans)
    Secernentea mab-93 transcription regulator 53(a)   II(516155-521443)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBX22 gene
    TBX12  TBX192  T2  TBX22  TBX62  TBX202  TBX32  TBX52  
    TBX152  TBX102  TBX42  TBX182  
    8 SIMAP similar genes for TBX22 using alignment to 1 protein entry:     TBX22_HUMAN:
    TBX18    TBX4    TBX15    TBX2    TBX10    TBX20
    TBX1    TBX6

    TBX22 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBX22 (see all 379)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289351771,2,,4
    CCleft palate with or without ankyloglossia, X-linked (CPX)4 pathogenic179254134(+) ACCAAA/TACCAA 6 N Y mis1 ese30--------
    VAR_0153844
    Cleft palate with or without ankyloglossia, X-linked (CPX)4--see VAR_0153842 T M mis40--------
    VAR_0360674
    A colorectal cancer sample4--see VAR_0360672 A T mis40--------
    VAR_0218314
    Cleft palate with or without ankyloglossia, X-linked (CPX)4--see VAR_0218312 M V mis40--------
    VAR_0218294
    Cleft palate with or without ankyloglossia, X-linked (CPX)4--see VAR_0218292 L P mis40--------
    VAR_0360664
    A colorectal cancer sample4--see VAR_0360662 V A mis40--------
    VAR_0360684
    A colorectal cancer sample4--see VAR_0360682 D N mis40--------
    VAR_0153834
    Cleft palate with or without ankyloglossia, X-linked (CPX)4--see VAR_0153832 G C mis40--------
    VAR_0218324
    Cleft palate with or without ankyloglossia, X-linked (CPX)4--see VAR_0218322 P L mis40--------
    rs1048949451,2
    Cpathogenic179249709(+) AGAGCG/TAGCCG 5 E * stg1 ut510--------

    HapMap Linkage Disequilibrium report for TBX22 (79270255 - 79287268 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TBX22:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521266CNV Gain19592680

    Human Gene Mutation Database (HGMD): TBX22
    Locus Specific Mutation Databases (LSDB): TBX22

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX22
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX22

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300307   
    OMIM disorders: 303400  302905  
    UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458
  • 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. 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 13 diseases for TBX22:    
    About MalaCards
    cleft palate x-linked    cleft palate    cleft palate with ankyloglossia    abruzzo erickson syndrome
    cleft lip +/- cleft palate    pterygium    cleft lip    breast and colorectal cancer
    intellectual disability    multiple myeloma    myeloma    colorectal cancer
    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for TBX22:
    Cleft palate     Cleft lip

    TBX22 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for TBX22 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ankyloglossia 96 4 12412015 (2), 19816249 (1), 17868388 (1)
    cleft palate 81.6 8 12412015 (3), 19816249 (3), 17868388 (2)

    Genetic Association Database (GAD): TBX22
    Human Genome Epidemiology (HuGE) Navigator: TBX22 (5 documents)

    Export disorders for TBX22 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TBX22 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with TBX22)
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    world of online information

    1. TBX22 mutations are a frequent cause of cleft palate. (PubMed id 14729838)1, 2, 3 Marcano A.C.B....Stanier P. (J. Med. Genet. 2004)
    2. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. (PubMed id 11559848)1, 2, 3 Braybrook C.... Stanier P. (Nat. Genet. 2001)
    3. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. (PubMed id 17868388)1, 4, 9 Suphapeetiporn K....Shotelersuk V. (Clin. Genet. 2007)
    4. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. (PubMed id 12374769)1, 2, 9 Braybrook C....Lindsay S. (Hum. Mol. Genet. 2002)
    5. X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. (PubMed id 22784330)1, 2 Pauws E....Stanier P. (Clin. Genet. 2013)
    6. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    7. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (Eur. J. Oral Sci. 2010)
    8. A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia. (PubMed id 19648124)1, 4 Pauws E....Stanier P. (J. Med. Genet. 2009)
    9. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PubMed id 16247549)1, 4 Ichikawa E....Yoshiura K. (J. Hum. Genet. 2006)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50945 HGNC: 11600 AceView: TBX22 Ensembl:ENSG00000122145 euGenes: HUgn50945
    ECgene: TBX22 H-InvDB: TBX22

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBX22 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBX22 gene:
    Search GeneIP for patents involving TBX22

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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