TBX5 (T-box transcription factor 5)

2007-02-01  

Identity

HGNC
TBX5
LOCATION
12q24.21
LOCUSID
6910
ALIAS
HOS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6910
MIM: 601620
HGNC: 11604
Ensembl: ENSG00000089225

Variants:

dbSNP: 6910
ClinVar: 6910
TCGA: ENSG00000089225
COSMIC: TBX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089225ENST00000310346Q99593
ENSG00000089225ENST00000349716Q99593
ENSG00000089225ENST00000405440Q99593
ENSG00000089225ENST00000526441Q99593

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
YAP1- and WWTR1 (TAZ)-stimulated gene expressionREACTOMER-HSA-2032785
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Physiological factorsREACTOMER-HSA-5578768

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
194304792009Genome-wide association study of blood pressure and hypertension.542
128453332003GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.319
232459412012β-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis.261
200620602010Genome-wide association study of PR interval.185
200620632010Several common variants modulate heart rate, PR interval and QRS duration.159
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
251244942014Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation.71
254161332015Stoichiometry of Gata4, Mef2c, and Tbx5 influences the efficiency and quality of induced cardiac myocyte reprogramming.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
225439742012Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.52

Citation

Dessen P

TBX5 (T-box transcription factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45532/tbx5