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TBX5 T-box 5 [ Homo sapiens (human) ]

Gene ID: 6910, updated on 26-Aug-2014
Official Symbol
TBX5provided by HGNC
Official Full Name
T-box 5provided by HGNC
Primary source
HGNC:11604
See related
Ensembl:ENSG00000089225; HPRD:03372; MIM:601620; Vega:OTTHUMG00000166191
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
HOS
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. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
See TBX5 in Epigenomics, MapViewer
Location:
12q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (114353930..114408442, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (114791735..114846247, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HAUS augmin-like complex, subunit 8 pseudogene 1 Neighboring gene glutamate-ammonia ligase (glutamine synthetase) pseudogene 5 Neighboring gene TBX5 antisense RNA 1 Neighboring gene osteoclast stimulating factor 1 pseudogene 1 Neighboring gene T-box 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Holt-Oram syndrome
MedGen: C0265264 OMIM: 142900 GeneReviews: Holt-Oram Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-23)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-23)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study of blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of PR interval.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Identification of a novel percent mammographic density locus at 12q24.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystem (from REACTOME)
    YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystemYAP1 and WWTR1 (TAZ) are transcriptional co-activators, both homologues of the Drosophila Yorkie protein. They both interact with members of the TEAD family of transcription factors, and WWTR1 intera...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic nuclear changes IDA
Inferred from Direct Assay
more info
PubMed 
atrial septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
atrioventricular valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
bundle of His development IEA
Inferred from Electronic Annotation
more info
 
cardiac left ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell migration involved in coronary vasculogenesis TAS
Traceable Author Statement
more info
 
cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocardial cushion development IEA
Inferred from Electronic Annotation
more info
 
forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
heart development IDA
Inferred from Direct Assay
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial to mesenchymal transition TAS
Traceable Author Statement
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
pericardium development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardioblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of execution phase of apoptosis IC
Inferred by Curator
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
ventricular cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
T-box transcription factor TBX5
Names
T-box transcription factor TBX5
T-box protein 5

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_007373.1 

    Range
    5001..59513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000192.3NP_000183.2  T-box transcription factor TBX5 isoform 1

    See proteins identical to NP_000183.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AC009260, AF221714, BC027942, DA863182
    Consensus CDS
    CCDS9173.1
    UniProtKB/Swiss-Prot
    Q99593
    Related
    ENSP00000309913, OTTHUMP00000232133, ENST00000310346, OTTHUMT00000388297
    Conserved Domains (1) summary
    cd00182
    Location:53241
    Blast Score: 962
    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_080717.2NP_542448.1  T-box transcription factor TBX5 isoform 3

    See proteins identical to NP_542448.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the exon containing the translation start site compared to transcript variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AB051068, AC009260, AF221714, BC027942
    Consensus CDS
    CCDS9174.1
    UniProtKB/Swiss-Prot
    Q99593
    Related
    ENSP00000337723, OTTHUMP00000232134, ENST00000349716, OTTHUMT00000388298
    Conserved Domains (1) summary
    cd00182
    Location:3191
    Blast Score: 955
    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 ...
  3. NM_181486.2NP_852259.1  T-box transcription factor TBX5 isoform 1

    See proteins identical to NP_852259.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AC009260, BC027942, CB960757
    Consensus CDS
    CCDS9173.1
    UniProtKB/Swiss-Prot
    Q99593
    Conserved Domains (1) summary
    cd00182
    Location:53241
    Blast Score: 962
    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    114353930..114408442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719582.1XP_006719645.1  

    See proteins identical to XP_006719645.1

    UniProtKB/Swiss-Prot
    Q99593
    Conserved Domains (1) summary
    cd00182
    Location:53241
    Blast Score: 959
    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 ...

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    111801135..111855628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    114759933..114814388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080718.1: Suppressed sequence

    Description
    NM_080718.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.