Gene

tbx5a

ID
ZDB-GENE-991124-7
Name
T-box transcription factor 5a
Symbol
tbx5a Nomenclature History
Previous Names
  • tbx5.1
  • tbx5
  • zf-tbx5
  • zTbx5
  • etID310031.5 (1)
  • heartstrings
  • hst
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Enables DNA-binding transcription factor activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and sequence-specific DNA binding activity. Acts upstream of or within several processes, including cardiac muscle tissue regeneration; heart development; and limb development. Located in actin cytoskeleton and nucleus. Is expressed in several structures, including eye; immature eye; mesoderm; pectoral fin; and pericardial region. Used to study Holt-Oram syndrome. Human ortholog(s) of this gene implicated in Holt-Oram syndrome. Orthologous to human TBX5 (T-box transcription factor 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
161 figures from 102 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
58 figures from 26 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hu6499Allele with one point mutationUnknownUnknownENU
m21Allele with one point mutationUnknownPremature StopENU
tpl58GtTransgenic insertionUnknownUnknownDNA
tpl147Allele with one deletionExon 2UnknownCRISPR
tpl148Allele with one deletionExon 2UnknownCRISPR
zf2156Allele with one point mutationUnknownPremature Stopnot specified
zf3255Allele with one deletionExon 3UnknownCRISPR
zf3256TgTransgenic insertionUnknownUnknownDNA and CRISPR
zf3258TgTransgenic insertionUnknownUnknownDNA and CRISPR
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Sequence Targeting Reagents
Human Disease
Associated With tbx5a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Holt-Oram syndrome Alliance Holt-Oram syndrome 142900
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Associated With tbx5a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018186 Transcription factor, T-box, conserved site
Domain IPR046360 T-box transcription factor, DNA-binding domain
Family IPR001699 T-box transcription factor
Homologous_superfamily IPR008967 p53-like transcription factor, DNA-binding domain superfamily
Homologous_superfamily IPR036960 T-box superfamily
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Domain Details Per Protein
Protein Additional Resources Length p53-like transcription factor, DNA-binding domain superfamily T-box superfamily T-box transcription factor T-box transcription factor, DNA-binding domain Transcription factor, T-box, conserved site
UniProtKB:A0A8M9QDI3 InterPro 492
UniProtKB:Q9IAK8 InterPro 492
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 5
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA tbx5a-201 (1) Ensembl 2,059 nt
ncRNA tbx5a-002 (1) Ensembl 768 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(hsp70l:dntbx5a,cryaa:GFP)
  • Danio rerio
1 (2)
TgBAC(tbx5a:EGFP)
  • tbx5a
  • Danio rerio
1 (4)
Tg(tbx5a:Cre-ERT2)
  • tbx5a
  • Danio rerio
1 (5)
Tg(tbx5a:mCherry-2A-Cre-ERT2)
  • tbx5a
  • Danio rerio
1 (4)
Tg(tbx5a:tdTomato)
  • tbx5a
  • Danio rerio
1 (3)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-245E21ZFIN Curated Data
EncodesESTeu790Thisse et al., 2005
interacts withNC Conserved Region (CNE, CNS)nccr.tbx5a.12sh
    Adachi et al., 2016
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanTBX512
    Amino acid sequence comparison (4)
    Conserved genome location (synteny) (1)
    MouseTbx55
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (3)
    Citations
    1 - 10 of 213
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