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Tbx5 Gene Detail
Summary
  • Symbol
    Tbx5
  • Name
    T-box 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:102541
    NCBI Gene: 21388
  • Gene Overview
    MyGene.info: TBX5
Location & Maps
more
  • Sequence Map
    Chr5:119832668-119885219 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      52552 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 60.42 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TBX5, T-box 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBX5, T-box 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HOS
  • Links
    NCBI Gene ID: 6910
    neXtProt AC: NX_Q99593

  • Chr Location
    12q24.1; chr12:114353930-114408442 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 160
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: TBX5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Tbx5 mouse models; 1 with human TBX5 associations

Human Disease Mouse Models
       Holt-Oram Syndrome; HOS   OMIM: 142900 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 3 alleles in 9 genetic backgrounds
    9 phenotypes from multigenic genotypes
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    2 involving Tbx5
  • Incidental Mutations
Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000056236 VEGA Gene Model | MGI Sequence Detail 52552 C57BL/6J ±  kb
transcript OTTMUST00000138983 VEGA | MGI Sequence Detail 3942 Not Applicable  
polypeptide OTTMUSP00000072981 VEGA | MGI Sequence Detail 518 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    374 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000016153 T-box transcription factor TBX5
  • PDB
  • InterPro Domains
    IPR008967 p53-like transcription factor, DNA-binding
    IPR001699 Transcription factor, T-box
    IPR018186 Transcription factor, T-box, conserved site
Molecular
Reagents
less
  • All nucleic 29
    cDNA 19
    Primer pair 8
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-19390
References
more
  • Summaries
    All 260
    Developmental Gene Expression 204
    Diseases 3
    Gene Ontology 28
    Phenotypes 38
  • Earliest
    J:864 Namba T, et al., Mouse thromboxane A2 receptor: cDNA cloning, expression and northern blot analysis. Biochem Biophys Res Commun. 1992 May 15;184(3):1197-203
  • Latest
    J:230819 Schuster-Gossler K, et al., Context-Dependent Sensitivity to Mutations Disrupting the Structural Integrity of Individual EGF Repeats in the Mouse Notch Ligand DLL1. Genetics. 2016 Mar;202(3):1119-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory