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

    Gene ID: 347853, updated on 4-Feb-2018
    Official Symbol
    TBX10provided by HGNC
    Official Full Name
    T-box 10provided by HGNC
    Primary source
    HGNC:HGNC:11593
    See related
    Ensembl:ENSG00000167800 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]
    Expression
    Biased expression in colon (RPKM 3.2), small intestine (RPKM 3.1) and 1 other tissue See more
    Orthologs
    Location:
    11q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (67631303..67639560, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67398774..67407031, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene double C2 domain gamma pseudogene Neighboring gene nudix hydrolase 8 Neighboring gene aminoacylase 3 Neighboring gene aldehyde dehydrogenase 3 family member B2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated 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 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_005995.4NP_005986.2  T-box transcription factor TBX10

      See identical proteins and their annotated locations for NP_005986.2

      Status: REVIEWED

      Source sequence(s)
      AP003385, AY229977
      Consensus CDS
      CCDS31621.1
      UniProtKB/Swiss-Prot
      O75333
      Related
      ENSP00000335191.3, OTTHUMP00000235632, ENST00000335385.3, OTTHUMT00000394034
      Conserved Domains (1) summary
      cd00182
      Location:65255
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      67631303..67639560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544992.2XP_011543294.1  T-box transcription factor TBX10 isoform X2

      Conserved Domains (1) summary
      cd00182
      Location:110300
      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_011544993.1XP_011543295.1  T-box transcription factor TBX10 isoform X1

      Conserved Domains (1) summary
      cl00145
      Location:194
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      67281822..67290082 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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