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FLASH GENE

Symbol

TCF7L2

contributors: mct/pgu - updated : 27-12-2018

HGNC name	transcription factor 7-like 2 (T-cell specific, HMG-box)
HGNC id	11641

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 tumoral somatic mutation       in gastrointestinal tumor tumoral fusion       with VTI1A in colorectal cancers constitutional     --over   attenuated insulin secretion, consistent with the extra TCF7L2 translocating CTNNB1 from the plasma membrane pool to the nucleus constitutional     --over   may contribute to cartilage degeneration in Osteoarthritis by augmenting NFKB1 signaling constitutional       gain of function is associated with BCL2 repression promoting vascular smooth muscle cell apoptosis, a key driver of TAA disease constitutional     --over   may result in enhanced apoptosis of vascular smooth muscle cells—a likely mechanism of action of TAA-associated variants in TCF7L2

Susceptibility

to type 2 gestational diabetes with alteration of the birth weight to polycystic ovary syndrome to type 2 diabetes (T2D) to Thoracic aortic aneurysm (TAA)

Variant & Polymorphism SNP	increasing thre risk of type 2 diabetes and altering birth weight
	polymorphisms that may confer an increased risk for early impairment of glucose metabolism in obese children
	rs11196236 and rs11196229 increasing the risk of polycystic ovary syndrome
	rs7903146 and rs12255372, located within introns 3 and 4 of the gene and most strongly associated with T2D
	TCF7L2 rs7903146 polymorphism was associated with susceptibility to gestational diabetes mellitus (GDM)
	variants within the third intron of TCF7L2 significantly associated with TAA

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS