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
151061232004Mutations in the human TBX4 gene cause small patella syndrome.48
235928872013TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.37
274001242016Transcription factor TBX4 regulates myofibroblast accumulation and lung fibrosis.26
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
306393232019Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.15
208877942010Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study.14
212716652011Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.14
226789952012Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.12

Citation

Dessen P

TBX4 (T-box transcription factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74556/tbx4