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    Tbx22 T-box 22 [ Mus musculus (house mouse) ]

    Gene ID: 245572, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Tbx22provided by MGI
    Official Full Name
    T-box 22provided by MGI
    Primary source
    MGI:MGI:2389465
    See related
    Ensembl:ENSMUSG00000031241 AllianceGenome:MGI:2389465
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D230020M15Rik
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell fate specification and negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Is expressed in several structures, including 1st branchial arch mesenchyme; alimentary system; face; nose; and vibrissa follicle. Used to study X-linked cleft palate with or without ankyloglossia. Human ortholog(s) of this gene implicated in Abruzzo-Erickson syndrome; X-linked cleft palate with or without ankyloglossia; and cleft palate. Orthologous to human TBX22 (T-box transcription factor 22). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X D; X 47.59 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (106711570..106732586)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (107667964..107688980)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47744 Neighboring gene integral membrane protein 2A Neighboring gene STARR-seq mESC enhancer starr_47745 Neighboring gene GLE1 RNA export mediator pseudogene Neighboring gene STARR-seq mESC enhancer starr_47746 Neighboring gene STARR-seq mESC enhancer starr_47747 Neighboring gene STARR-seq mESC enhancer starr_47748 Neighboring gene charged multivesicular body protein 1B2 Neighboring gene terminal nucleotidyltransferase 5D Neighboring gene STARR-seq mESC enhancer starr_47749 Neighboring gene STARR-seq mESC enhancer starr_47750 Neighboring gene STARR-seq mESC enhancer starr_47751 Neighboring gene WAVE homology in membrane protrusions

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis. Herr A, et al. Dev Dyn, 2003 Apr. PMID 12666195
    2. Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. Bush JO, et al. Dev Dyn, 2002 Nov. PMID 12412015
    3. Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. Huang KM, et al. Hum Mol Genet, 2006 Jan 15. PMID 16357105
    4. Dorsoventral patterning of the mouse coat by Tbx15. Candille SI, et al. PLoS Biol, 2004 Jan. PMID 14737183, Free PMC Article
    5. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Braybrook C, et al. Hum Mol Genet, 2002 Oct 15. PMID 12374769

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results demonstrate that FGF8 induces Tbx22 in the early face while BMP4 represses and thus restricts its expression. This regulation is conserved between chicken and mouse.
      Title: Regulation of Tbx22 during facial and palatal development.
    2. Data show that Tbx22 is an important determinant for intramembranous bone formation in the posterior hard palate, which underpins normal palate development and function.
      Title: Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
    3. Mn1 and Tbx22 function in a novel molecular pathway regulating mammalian palate development.
      Title: The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.
    4. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients.
      Title: Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
    5. In mouse embryos, it is expressed in distinct areas of the head, namely the mesenchyme of the inferior nasal septum, the posterior palatal shelf before fusion, the attachment of the tongue, and mesenchymal cells surrounding the eye anlage.
      Title: Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis.
    6. primary role for Tbx22 in both palate and tongue development
      Title: Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    T-box transcription factor TBX22
    Names
    T-box protein 22

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290747.1 → NP_001277676.1  T-box transcription factor TBX22 isoform 3

      See identical proteins and their annotated locations for NP_001277676.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF516208, AK053430, BB375235, BC152402
      Consensus CDS
      CCDS72420.1
      UniProtKB/TrEMBL
      Q8BKE4
      Related
      ENSMUSP00000127321.2, ENSMUST00000168403.2
      Conserved Domains (1) summary
      cl00145
      Location:7 → 82
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    2. NM_145224.3 → NP_660259.1  T-box transcription factor TBX22 isoform 1

      See identical proteins and their annotated locations for NP_660259.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform 1.
      Source sequence(s)
      AF516208, AK084312, AL663048
      Consensus CDS
      CCDS30350.1
      UniProtKB/Swiss-Prot
      Q8K402
      UniProtKB/TrEMBL
      Q811Z5
      Related
      ENSMUSP00000112544.2, ENSMUST00000118986.8
      Conserved Domains (1) summary
      cd00182
      Location:89 → 284
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    3. NM_181319.5 → NP_851836.2  T-box transcription factor TBX22 isoform 2

      See identical proteins and their annotated locations for NP_851836.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus than isoform 1.
      Source sequence(s)
      AF516208
      Consensus CDS
      CCDS30351.2
      UniProtKB/TrEMBL
      E9Q5R8, Q811Z5
      Related
      ENSMUSP00000128247.3, ENSMUST00000168174.9
      Conserved Domains (1) summary
      cd00182
      Location:103 → 298
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      106711570..106732586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017318490.3 → XP_017173979.1  T-box transcription factor TBX22 isoform X1

      UniProtKB/TrEMBL
      Q811Z5
      Conserved Domains (1) summary
      cd00182
      Location:90 → 285
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    2. XM_017318491.3 → XP_017173980.1  T-box transcription factor TBX22 isoform X2

      UniProtKB/Swiss-Prot
      Q8K402
      UniProtKB/TrEMBL
      Q811Z5
      Conserved Domains (1) summary
      cd00182
      Location:89 → 284
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    3. XM_017318492.3 → XP_017173981.1  T-box transcription factor TBX22 isoform X3

      UniProtKB/TrEMBL
      Q811Z5
      Conserved Domains (1) summary
      cd00182
      Location:1 → 167
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    4. XM_006528040.5 → XP_006528103.1  T-box transcription factor TBX22 isoform X4

      See identical proteins and their annotated locations for XP_006528103.1

      Conserved Domains (1) summary
      cl00145
      Location:1 → 126
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    5. XM_006528039.4 → XP_006528102.1  T-box transcription factor TBX22 isoform X4

      See identical proteins and their annotated locations for XP_006528102.1

      Conserved Domains (1) summary
      cl00145
      Location:1 → 126
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    6. XM_036161956.1 → XP_036017849.1  T-box transcription factor TBX22 isoform X5

      Conserved Domains (1) summary
      cl00145
      Location:1 → 67
      T-box; DNA-binding domain of the T-box transcription factor family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K402.1 GenPept UniProtKB/Swiss-Prot:Q8K402

    Gene LinkOut

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