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    TBX10 T-box 10 [ Homo sapiens (human) ]

    Gene ID: 347853, updated on 26-Feb-2013
    Official Symbol
    TBX10provided by HGNC
    Official Full Name
    T-box 10provided by HGNC
    Primary source
    HGNC:11593
    See related
    Ensembl:ENSG00000167800; HPRD:06872; MIM:604648; Vega:OTTHUMG00000167291
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TBX7; TBX13
    Summary
    This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
    Location :
    11q13.2
    Sequence :
    Chromosome: 11; NC_000011.9 (67398774..67407031, complement)
    See TBX10 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene double C2-like domains, gamma, pseudogene Neighboring gene nudix (nucleoside diphosphate linked moiety X)-type motif 8 Neighboring gene aspartoacylase (aminocyclase) 3 Neighboring gene aldehyde dehydrogenase 3 family, member B2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. Nikopensius T, et al. Birth Defects Res A Clin Mol Teratol, 2010 Sep. PMID 20672350.
    2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. Jugessur A, et al. PLoS One, 2010 Jul 9. PMID 20634891.
    3. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. Jagomägi T, et al. Eur J Oral Sci, 2010 Jun. PMID 20572854.
    4. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. Mostowska A, et al. Birth Defects Res A Clin Mol Teratol, 2010 Jul. PMID 20544801.
    5. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. Vieira AR, et al. PLoS Genet, 2005 Dec. PMID 16327884.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    T-box transcription factor TBX10
    Names
    T-box transcription factor TBX10
    T-box 7
    T-box protein 10
    T-box-containing transcriptional activator

    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_005995.4 → NP_005986.2  T-box transcription factor TBX10

      Status: REVIEWED

      Source sequence(s)
      AP003385, AY229977
      Consensus CDS
      CCDS31621.1
      UniProtKB/Swiss-Prot
      O75333
      Related
      ENSP00000335191, OTTHUMP00000235632, ENST00000335385, OTTHUMT00000394034
      Conserved Domains (1) summary
      cd00182
      Location:65 – 255
      Blast Score: 702
      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: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p10 Primary Assembly

      Range
      67398774..67407031, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      63728041..63736303, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018922.1 Alternate CHM1_1.0

      Range
      67318430..67326689, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01024026.1 (155579..163841) None
    genomic AMYH01003748.1 (948..9207) None
    genomic AP003385.2 (29696..37954) None
    genomic CH471076.1 EAW74662.1
    mRNA AY229977.1 AAO73483.1
    mRNA BC113485.1 AAI13486.1
    mRNA BC113487.1 AAI13488.1
    other-genetic HQ258204.1 ADR82958.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75333.2 GenPept UniProtKB/Swiss-Prot:O75333

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioAssays, RNAi Target,Active
        BioAssays, RNAi Target,Active
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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