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

    Gene ID: 347853, updated on 9-Dec-2024

    Summary

    Official Symbol
    TBX10provided by HGNC
    Official Full Name
    T-box transcription factor 10provided by HGNC
    Primary source
    HGNC:HGNC:11593
    See related
    Ensembl:ENSG00000167800 MIM:604648; AllianceGenome:HGNC:11593
    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
    NEW
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    Genomic context

    See TBX10 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67631303..67641754, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67625990..67636442, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67398774..67407234, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902696 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67388663-67389245 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67389246-67389827 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67393084-67393613 Neighboring gene Sharpr-MPRA regulatory region 370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67399437-67399966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67400495-67401024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401025-67401552 Neighboring gene nudix hydrolase 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401848-67402406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67402407-67402965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67411697-67412266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67412267-67412834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67416073-67416595 Neighboring gene aminoacylase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5124 Neighboring gene aldehyde dehydrogenase 3 family member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5125

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive 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
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    T-box transcription factor TBX10
    Names
    T-box 10
    T-box 7
    T-box protein 10
    T-box-containing transcriptional activator

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_005995.5NP_005986.2  T-box transcription factor TBX10

      See identical proteins and their annotated locations for NP_005986.2

      Status: REVIEWED

      Source sequence(s)
      AP003385
      Consensus CDS
      CCDS31621.1
      UniProtKB/Swiss-Prot
      O75333, Q14D64, Q86XS3
      Related
      ENSP00000335191.3, ENST00000335385.4
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67631303..67641754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426879.1XP_047282835.1  T-box transcription factor TBX10 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67625990..67636442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368657.1XP_054224632.1  T-box transcription factor TBX10 isoform X1