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    TBX19 T-box transcription factor 19 [ Homo sapiens (human) ]

    Gene ID: 9095, updated on 9-Jun-2025
    Official Symbol
    TBX19provided by HGNC
    Official Full Name
    T-box transcription factor 19provided by HGNC
    Primary source
    HGNC:HGNC:11596
    See related
    Ensembl:ENSG00000143178 MIM:604614; AllianceGenome:HGNC:11596
    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
    TPIT; TBS19; dJ747L4.1
    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. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 1.9), spleen (RPKM 1.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table
    See TBX19 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (168280877..168314426)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (167632365..167665914)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (168250115..168283664)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SFT2 domain containing 2 Neighboring gene ankyrin repeat domain 36B pseudogene 1 Neighboring gene RNA, U6 small nuclear 1310, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168239605-168240105 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:168254423-168254924 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:168260049-168260620 Neighboring gene Sharpr-MPRA regulatory region 6776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:168323282-168323928 Neighboring gene Sharpr-MPRA regulatory region 2596 Neighboring gene dynactin subunit 5 pseudogene Neighboring gene microRNA 557

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: SFT2D2

    Clone Names

    • FLJ26302, FLJ34085, FLJ34543

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mesoderm formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within 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
     
    acts_upstream_of_or_within regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of cell population proliferation 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
     
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_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
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    T-box transcription factor TBX19
    Names
    T-box 19
    T-box factor, pituitary
    T-box protein 19
    TBS 19

    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_008244.1 RefSeqGene

      Range
      4838..38387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005149.3NP_005140.1  T-box transcription factor TBX19

      See identical proteins and their annotated locations for NP_005140.1

      Status: REVIEWED

      Source sequence(s)
      AJ010277, AK091404, AL009051
      Consensus CDS
      CCDS1272.1
      UniProtKB/Swiss-Prot
      O60806, Q52M53
      Related
      ENSP00000356795.3, ENST00000367821.8
      Conserved Domains (1) summary
      pfam00907
      Location:43218
      T-box; T-box

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      168280877..168314426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      167632365..167665914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)