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 NCBI 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 zebrafish

Gene Tree: Tbx5

Human homologs

Human Homolog		TBX5, T-box 5
NCBI Gene ID		6910
neXtProt AC		NX_Q99593
Human Synonyms		HOS
Human Chr (Location)		12q24.1; chr12:114791735-114846247 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TBX5

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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 Using Mouse Tbx5 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (52 annotations)

Process	atrial septum development, atrioventricular valve morphogenesis, ...
Component	cytoplasm, nucleus, ...
Function	DNA binding, protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (163 records)
Data Summary: Results (338)    Tissues (178)    Images (116)
Theiler Stages: 2, 3, 4, 5, 11, 12, 13, 14, 15, 17, 19, 20, 21, 23, 24, 28

Assay Type	Results
RNA in situ	290
Northern blot	1
RT-PCR	47

cDNA source data(19)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(28) cDNA(19) Primer pair(7) Other(2)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000018263 (Evidence)
Entrez Gene	21388 (Evidence)
UniGene	103636
DFCI	TC1587199, TC1665718, TC1712184
DoTS	DT.55222161, DT.87047045
NIA Mouse Gene Index	U006099
Consensus CDS Project	CCDS19615.1
International Mouse Knockout Project Status	Tbx5

Sequences

Length	Strain/Species
genomic	21388	NCBI Gene Model | MGI Sequence Detail	50556	C57BL/6J
transcript	NM_011537	RefSeq | MGI Sequence Detail	3941	C57BL/6
polypeptide	P70326	UniProt | EBI | MGI Sequence Detail	518	Not Applicable

All sequences(24) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(66 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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

Graphical View of Protein Domain Structure

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:192465 Huang J, et al., Myocardin regulates BMP10 expression and is required for heart development. J Clin Invest. 2012 Oct 1;122(10):3678-91
All references(217)

Other accession IDs

MGD-MRK-19390