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Tbx5
Gene Detail
Symbol

Name
ID
Tbx5
T-box 5
MGI:102541
Feature Type
protein coding gene
Genetic Map
Chromosome 5
60.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:119834663-119885218 bp, + strand
From Ensembl annotation of GRCm38

  50556 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:160  Vertebrate Homology Class
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: Tbx5

Human
homologs
TBX5, T-box 5
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6910
neXtProt AC: NX_Q99593

Human Synonyms: HOS

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

Disease Associations: (1) Diseases Associated with Human TBX5

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Tbx5 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Tbx5 interacts with 223 markers (Mir1a-1, Mir1a-2, Mir10a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (59 annotations)
Process atrial septum development, atrial septum morphogenesis, ...
Component cytoplasm, nucleus, ...
Function DNA binding, protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (194 records)
Data Summary: Results (421)    Tissues (211)    Images (165)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 372
Northern blot 1
RT-PCR 47
cDNA source data(19)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: GEISHA TBX5 ; Xenbase tbx5 ; ZFIN tbx5a    NEW 
Molecular
reagents
All nucleic(29) cDNA(19) Primer pair(8) Other(2)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000018263 (Evidence)
Entrez Gene 21388 (Evidence)
UniGene 103636
DFCI TC1587199, TC1712184, TC1665718
DoTS DT.87047045, DT.55222161
NIA Mouse Gene Index U006099
Consensus CDS Project CCDS19615.1
International Mouse Phenotyping Consortium Status Tbx5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000018263 Ensembl Gene Model | MGI Sequence Detail 50556 C57BL/6J ±  kb
transcript ENSMUST00000018407 Ensembl | MGI Sequence Detail 3941 Not Applicable 
polypeptide ENSMUSP00000018407 Ensembl | MGI Sequence Detail 518 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(14) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(305 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008967 p53-like transcription factor, DNA-binding
InterPro IPR001699 Transcription factor, T-box
InterPro IPR018186 Transcription factor, T-box, conserved site
Protein Ontology PR:000016153 T-box transcription factor TBX5
References
(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:219365 Simmons O, et al., Persistent Noggin arrests cardiomyocyte morphogenesis and results in early in utero lethality. Dev Dyn. 2015 Mar;244(3):457-67
All references(250)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-19390

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
07/21/2015
MGI 5.22
The Jackson Laboratory