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    TBX15 T-box transcription factor 15 [ Homo sapiens (human) ]

    Gene ID: 6913, updated on 10-Dec-2024

    Summary

    Official Symbol
    TBX15provided by HGNC
    Official Full Name
    T-box transcription factor 15provided by HGNC
    Primary source
    HGNC:HGNC:11594
    See related
    Ensembl:ENSG00000092607 MIM:604127; AllianceGenome:HGNC:11594
    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
    TBX14
    Summary
    This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
    Expression
    Biased expression in fat (RPKM 11.5), liver (RPKM 10.7) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TBX15 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (118883047..118989510, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (118896253..119002693, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119425670..119532133, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high density lipoprotein binding protein pseudogene Neighboring gene uncharacterized LOC107985447 Neighboring gene MPRA-validated peak393 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:119395269-119395890 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:119407731-119408930 Neighboring gene skeletal muscle cis-regulatory module in TBX15 intron Neighboring gene Sharpr-MPRA regulatory region 5383 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:119502746-119503360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119527836-119528513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119529833-119530366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119530367-119530899 Neighboring gene uncharacterized LOC105378933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119544270-119545093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_115 Neighboring gene NANOG hESC enhancer GRCh37_chr1:119585151-119585652 Neighboring gene MPRA-validated peak395 silencer Neighboring gene WARS2 intronic transcript 1 Neighboring gene tryptophanyl tRNA synthetase 2, mitochondrial

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (19 hits/1285 screens)

    Associated conditions

    Description Tests
    Pelviscapular dysplasia
    MedGen: C1850040 OMIM: 260660 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of RNA polymerase II transcription repressor complex  
    located_in chromatin  
    located_in chromatin  
    is_active_in nucleus  

    General protein information

    Preferred Names
    T-box transcription factor TBX15
    Names
    T-box 14
    T-box 15
    T-box protein 14
    T-box protein 15
    T-box transcription factor TBX14

    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_013361.1 RefSeqGene

      Range
      6214..111510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330677.2 → NP_001317606.1  T-box transcription factor TBX15 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL139420, AL357045
      Consensus CDS
      CCDS81360.1
      UniProtKB/Swiss-Prot
      Q08E76, Q5JT54, Q5T9S7, Q96SF7
      Related
      ENSP00000358437.3, ENST00000369429.5
      Conserved Domains (1) summary
      cd00182
      Location:113 → 308
      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. NM_152380.3 → NP_689593.2  T-box transcription factor TBX15 isoform 2

      See identical proteins and their annotated locations for NP_689593.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK096396, AK127536
      Consensus CDS
      CCDS30816.1
      UniProtKB/Swiss-Prot
      Q96SF7
      UniProtKB/TrEMBL
      Q8N8P2
      Related
      ENSP00000207157.3, ENST00000207157.7
      Conserved Domains (1) summary
      cd20198
      Location:1 → 198
      T-box_TBX15-like; DNA-binding domain of T-box transcription factor 15 and related T-box proteins

    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
      118883047..118989510 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429138.1 → XP_047285094.1  T-box transcription factor TBX15 isoform X5

    2. XM_047429131.1 → XP_047285087.1  T-box transcription factor TBX15 isoform X2

    3. XM_047429124.1 → XP_047285080.1  T-box transcription factor TBX15 isoform X1

    4. XM_005271161.5 → XP_005271218.1  T-box transcription factor TBX15 isoform X3

      Conserved Domains (1) summary
      cd00182
      Location:113 → 308
      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 ...
    5. XM_047429135.1 → XP_047285091.1  T-box transcription factor TBX15 isoform X4

    6. XM_047429137.1 → XP_047285093.1  T-box transcription factor TBX15 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      118896253..119002693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338519.1 → XP_054194494.1  T-box transcription factor TBX15 isoform X5

    2. XM_054338516.1 → XP_054194491.1  T-box transcription factor TBX15 isoform X3

    3. XM_054338517.1 → XP_054194492.1  T-box transcription factor TBX15 isoform X4

    4. XM_054338518.1 → XP_054194493.1  T-box transcription factor TBX15 isoform X4

    5. XM_054338520.1 → XP_054194495.1  T-box transcription factor TBX15 isoform X6

      UniProtKB/TrEMBL
      Q5JT55
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