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    TBX6 T-box transcription factor 6 [ Homo sapiens (human) ]

    Gene ID: 6911, updated on 3-Dec-2024

    Summary

    Official Symbol
    TBX6provided by HGNC
    Official Full Name
    T-box transcription factor 6provided by HGNC
    Primary source
    HGNC:HGNC:11605
    See related
    Ensembl:ENSG00000149922 MIM:602427; AllianceGenome:HGNC:11605
    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
    SCDO5
    Summary
    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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in stomach (RPKM 1.7), urinary bladder (RPKM 1.0) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TBX6 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30085793..30091924, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30368436..30374583, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30097114..30103245, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharaterized LOC112694756 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30076132-30076912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7350 Neighboring gene aldolase, fructose-bisphosphate A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10689 Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30096821-30096985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30101709-30102582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30107354-30107960 Neighboring gene yippee like 3 Neighboring gene YPEL3 divergent transcript Neighboring gene glycerophosphodiester phosphodiesterase domain containing 3

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spondylocostal dysostosis 5 Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 TBX6
    Names
    T-box 6
    T-box protein 6

    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.

    Genomic

    1. NG_023283.1 RefSeqGene

      Range
      4961..11092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004608.4NP_004599.2  T-box transcription factor TBX6

      See identical proteins and their annotated locations for NP_004599.2

      Status: REVIEWED

      Source sequence(s)
      AC012645, BC026031
      Consensus CDS
      CCDS10670.1
      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27
      Related
      ENSP00000378650.2, ENST00000395224.7
      Conserved Domains (1) summary
      cd00182
      Location:90277
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30085793..30091924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545926.4XP_011544228.1  T-box transcription factor TBX6 isoform X1

      See identical proteins and their annotated locations for XP_011544228.1

      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27
      Conserved Domains (1) summary
      cd00182
      Location:90277
      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_047434551.1XP_047290507.1  T-box transcription factor TBX6 isoform X1

      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27
      Related
      ENSP00000279386.2, ENST00000279386.6

    RNA

    1. XR_007064904.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30368436..30374583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313801.1XP_054169776.1  T-box transcription factor TBX6 isoform X1

      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27
    2. XM_054313800.1XP_054169775.1  T-box transcription factor TBX6 isoform X1

      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27
    3. XM_054313799.1XP_054169774.1  T-box transcription factor TBX6 isoform X1

      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27
    4. XM_054313802.1XP_054169777.1  T-box transcription factor TBX6 isoform X1

      UniProtKB/Swiss-Prot
      O95947, Q8TAS4, Q9HA44
      UniProtKB/TrEMBL
      X5DP27

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080758.1: Suppressed sequence

      Description
      NM_080758.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.