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    TBX18 T-box transcription factor 18 [ Homo sapiens (human) ]

    Gene ID: 9096, updated on 27-Nov-2024

    Summary

    Official Symbol
    TBX18provided by HGNC
    Official Full Name
    T-box transcription factor 18provided by HGNC
    Primary source
    HGNC:HGNC:11595
    See related
    Ensembl:ENSG00000112837 MIM:604613; AllianceGenome:HGNC:11595
    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
    PUJO; CAKUT2
    Summary
    This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
    Expression
    Broad expression in fat (RPKM 1.9), skin (RPKM 1.3) and 17 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TBX18 in Genome Data Viewer
    Location:
    6q14.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (84732496..84764598, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (85949735..85981843, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (85442214..85474316, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986620 Neighboring gene long intergenic non-protein coding RNA 1611 Neighboring gene SMARCE1 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:85246850-85247358 Neighboring gene TBX18 antisense RNA 1 Neighboring gene uncharacterized LOC124901519 Neighboring gene uncharacterized LOC124901353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:85473049-85473633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:85473634-85474217 Neighboring gene Sharpr-MPRA regulatory region 2176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:85482770-85483384 Neighboring gene uncharacterized LOC124901494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17363 Neighboring gene uncharacterized LOC105377881

    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
    Congenital anomalies of kidney and urinary tract 2
    MedGen: C5574705 OMIM: 143400 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in morphogenesis of embryonic epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural plate anterior/posterior regionalization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of regulation of SA node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sinoatrial node cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sinoatrial node cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sinoatrial node development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somitogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within somitogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ureter development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription repressor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    T-box transcription factor TBX18
    Names
    T-box 18
    T-box protein 18

    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_046956.1 RefSeqGene

      Range
      5133..37235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080508.3NP_001073977.1  T-box transcription factor TBX18

      See identical proteins and their annotated locations for NP_001073977.1

      Status: REVIEWED

      Source sequence(s)
      AL035694, BC132715, BC157841
      Consensus CDS
      CCDS34495.1
      UniProtKB/Swiss-Prot
      A2RU13, O95935, Q7Z6U4, Q9UJI6
      Related
      ENSP00000358677.4, ENST00000369663.10
      Conserved Domains (1) summary
      cd00182
      Location:139334
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      84732496..84764598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      85949735..85981843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)