Property Summary

NCBI Gene PubMed Count 18
PubMed Score 46.98
PubTator Score 27.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
lung cancer -3.900 2.4e-06
lung adenocarcinoma -1.800 1.7e-15
lung carcinoma -1.800 6.2e-11
non-small cell lung carcinoma -1.500 4.1e-24

Pathway (1)

Gene RIF (10)

PMID Text
24592505 Although TBX4 remains the candidate gene for congenital clubfoot involving 17q23.1-q23.2 duplications, the explanation for variable expressivity and penetrance remains unknown.
23592887 data indicate that TBX4 mutations are associated with childhood-onset pulmonary arterial hypertension (PAH), but the prevalence of PAH in adult TBX4 mutation carriers is low
22678995 Minimal evidence was found for an association between TBX4 and clubfoot and no pathogenic sequence variants were identified in the two known TBX4 hindlimb enhancer elements.
21954337 a low level of TBX4 expression suggests a worse prognosis for patients with stage II PDAC. Down-regulation of the TBX4 gene in pancreas is less likely to be regulated by DNA methylation.
21271665 Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
20887794 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20546612 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
15106123 Mutations in the human TBX4 gene cause small patella syndrome

AA Sequence

MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVG      1 - 70
LHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKA     71 - 140
EPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSK    141 - 210
NTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLI    211 - 280
SPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCLKRRDGTRHLDLPC    281 - 350
KRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMW    351 - 420
TSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSAS    421 - 490
FPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG                   491 - 545
//

Text Mined References (20)

PMID Year Title
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
24592505 2014 Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
23592887 2013 TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
22678995 2012 Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
21954337 2011 Low expression of TBX4 predicts poor prognosis in patients with stage II pancreatic ductal adenocarcinoma.
21271665 2011 Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
20887794 2010 Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
19893584 2010 Identification of 15 loci influencing height in a Korean population.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
18391951 2008 Many sequence variants affecting diversity of adult human height.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15106123 2004 Mutations in the human TBX4 gene cause small patella syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10945475 2000 Virtual cloning and physical mapping of a human T-box gene, TBX4.
10199965 1999 T-box genes and the formation of vertebrate forelimb- and hindlimb specific pattern.
8878690 1996 Evolution of mouse T-box genes by tandem duplication and cluster dispersion.