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FLASH GENE

Symbol

TBX21

contributors: mct - updated : 27-03-2017

HGNC name	T-box 21
HGNC id	11599

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   during the late secretory phase in the endometrium, suggesting antagonistic function and/or regulation between progesterone receptor and TBX21/GATA3 (Inman 2008) constitutional     --over   in active Immune thrombocytopenia (ITP) patients compared to control constitutional     --over   induces aberrant hematopoiesis of myeloid cells and impairs function of macrophages in the lung

Susceptibility

to insulin dependent type 1 diabetes to asthma resistant to inhaled corticosteroids to aspirin-induced ashma

Variant & Polymorphism SNP	His33>Gln associated with type 1 diabetes
	His33>Gln associated with asthma resistant to inhaled corticosteroids
	1993T>C associated with aspirin-induced asthma
	SNPs in TBX21 increase the risk of systemic sclerosis (Gourh 2009)
	T1993C polymorphism in the TBX21 promoter influences susceptibility to persistent HBV infection (Chen 2009)
	TBX21 T-1993C polymorphism represses TBX21 expression and Th1 cytokine production through control of YY1, which might result in the imbalance between Th1 and Th2 immune responses in autoimmune or allergic diseases

Candidate gene	can be considered as putative marker of chronic inflammatory demyelinating polyradiculoneuropathy (Shin 2009)
Marker
Therapy target	for the treatment of systemic sclerosis and other fibrosing disorders

ANIMAL & CELL MODELS

mice lacking both transcription factors Eomesodermin (Eomes) and Tbx21 failed to develop NK cells