TBX20 (T-box transcription factor 20)

2016-10-01 Affiliation

Identity

HGNC

TBX20

LOCATION

7p14.2

LOCUSID

57057

ALIAS

ASD4

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57057
MIM: 606061
HGNC: 11598
Ensembl: ENSG00000164532

Variants:

dbSNP: 57057
ClinVar: 57057
TCGA: ENSG00000164532
COSMIC: TBX20

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164532	ENST00000408931	Q9UMR3

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
17668378	2007	Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.	97
19762328	2010	A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.	41
18834961	2008	T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.	29
18834961	2008	T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.	29
18275040	2008	Characterization of TBX20 in human hearts and its regulation by TFAP2.	27
19414016	2009	Conformational stability and DNA binding specificity of the cardiac T-box transcription factor Tbx20.	13
23871353	2013	Tbx20 functions as an important regulator of estrogen-mediated cardiomyocyte protection during oxidative stress.	9
25625280	2015	TBX20 loss-of-function mutation contributes to double outlet right ventricle.	9
27348591	2016	Probing chromatin landscape reveals roles of endocardial TBX20 in septation.	9
21586270	2011	Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor.	8

Citation

Dessen P

TBX20 (T-box transcription factor 20)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56233/tbx20