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

Gene ID: 6910, updated on 6-Sep-2021

Summary

Official Symbol
TBX5provided by HGNC
Official Full Name
T-box transcription factor 5provided by HGNC
Primary source
HGNC:HGNC:11604
See related
Ensembl:ENSG00000089225 MIM:601620
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]
Expression
Biased expression in heart (RPKM 12.5), placenta (RPKM 8.8) and 6 other tissues See more
Orthologs
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Genomic context

See TBX5 in Genome Data Viewer
Location:
12q24.21
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (114353911..114408708, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (114791716..114846247, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11920 Neighboring gene CRE9 enhancer downstream of TBX5 Neighboring gene uncharacterized LOC105369998 Neighboring gene CRE16 enhancer upstream of TBX5 Neighboring gene TBX5 antisense RNA 1 Neighboring gene RN7SK pseudogene 216

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
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
GeneReviews: Not available
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
GeneReviews: Not available
Genome-wide association studies of the PR interval in African Americans.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
GeneReviews: Not available
Genome-wide association study of blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study of PR interval.
GeneReviews: Not available
Holt-Oram syndrome
MedGen: C0265264 OMIM: 142900 GeneReviews: Holt-Oram Syndrome
Compare labs
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Identification of a novel percent mammographic density locus at 12q24.
GeneReviews: Not available
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
GeneReviews: Not available
Several common variants modulate heart rate, PR interval and QRS duration.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-07-29)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-29)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in atrial septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular bundle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular node cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular node cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_positive_effect bundle of His cell to Purkinje myocyte communication by electrical coupling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bundle of His development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac left ventricle formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiac left ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell migration involved in coronary vasculogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_positive_effect cell-cell signaling involved in cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocardial cushion development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cardiac muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of epithelial to mesenchymal transition TAS
Traceable Author Statement
more info
PubMed 
involved_in pattern specification process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in pericardium development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of positive regulation of cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardioblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of positive regulation of cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of gap junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_positive_effect regulation of atrial cardiac muscle cell membrane depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ventricular septum development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
T-box transcription factor TBX5
Names
T-box 5
T-box protein 5

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_007373.1 RefSeqGene

    Range
    5001..59513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_670

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for 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
    ENSP00000309913.4, ENST00000310346.8
    Conserved Domains (1) summary
    cd20189
    Location:54238
    T-box_TBX4_5-like; DNA-binding domain of T-box transcription factor 4 and 5, and related T-box proteins
  2. NM_080717.4NP_542448.1  T-box transcription factor TBX5 isoform 3

    See identical proteins and their annotated locations for 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
    ENSP00000337723.5, ENST00000349716.9
    Conserved Domains (1) summary
    cd20189
    Location:4188
    T-box_TBX4_5-like; DNA-binding domain of T-box transcription factor 4 and 5, and related T-box proteins
  3. NM_181486.4NP_852259.1  T-box transcription factor TBX5 isoform 1

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000384152.3, ENST00000405440.7
    Conserved Domains (1) summary
    cd20189
    Location:54238
    T-box_TBX4_5-like; DNA-binding domain of T-box transcription factor 4 and 5, and related T-box proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    114353911..114408708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019912.1XP_016875401.1  T-box transcription factor TBX5 isoform X1

    Conserved Domains (1) summary
    cd00182
    Location:69257
    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 ...

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.
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