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FLASH GENE

Symbol

TBX4

contributors: mct - updated : 28-01-2020

HGNC name	T-box 4
HGNC id	11603

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PTLAH , DEL17Q23 , DUP17QO , PAPPAS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4 (Alvarado 2010) constitutional germinal mutation       associated with childhood-onset pulmonary arterial hypertension constitutional germinal mutation       in developmental lung disease manifesting with severe, often biphasic pulmonary hypertension (PH) at birth and/or later in infancy and childhood, often associated with skeletal anomalies, cardiac defects, neurodevelopmental disability and other anomalies

Susceptibility

to lethal lung maldevelopment, including acinar dysplasia (AcDys), congenital alveolar dysplasia (CAD) spectrum to pulmonary arterial hypertension (PAH)

Variant & Polymorphism other	SNVs or CNVs involving TBX4 in our subjects with lethal lung maldevelopment, including acinar dysplasia (AcDys), congenital alveolar dysplasia (CAD)spectrum
	common genetic variants underlying PAH susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in mice, a homozygous Tbx4-null allele entirely abrogates hindlimb development while forelimbs remain unaffected (pMID: 31761294)