TBX4 (T-box transcription factor 4)

2014-11-01  

Identity

HGNC
TBX4
LOCATION
17q23.2
LOCUSID
9496
ALIAS
ICPPS,PAPPAS,SPS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9496
MIM: 601719
HGNC: 11603
Ensembl: ENSG00000121075

Variants:

dbSNP: 9496
ClinVar: 9496
TCGA: ENSG00000121075
COSMIC: TBX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121075ENST00000240335P57082
ENSG00000121075ENST00000589003K7EPY2
ENSG00000121075ENST00000642491P57082
ENSG00000121075ENST00000644296P57082

Expression (GTEx)

0
10
20
30
40
50
60
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
378016292024Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.0
381918082024Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.0
378016292024Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.0
381918082024Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.0
352161932022Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.1
363601952022What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.2
352161932022Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.1
363601952022What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.2
334784862021Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.8
334784862021Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.8
320796402020Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.18
321956782020TBX4 variants and pulmonary diseases: getting out of the 'Box'.7
323483262020Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.14
325181742020Rare and de novo duplications containing SHOX in clubfoot.6
330662862020Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.6

Citation

Dessen P

TBX4 (T-box transcription factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74556