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FLASH GENE

Symbol

TCF4

contributors: mct/shn - updated : 31-01-2016

HGNC name	transcription factor 4
HGNC id	11634

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PTHS , DEL18QD , FECD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         bipolar disorder

Susceptibility

to schizophrenia to autism to Fuchs' corneal dystrophy (

Variant & Polymorphism SNP , repeat	very enlarged CTG alleles maybe associated to bipolar disorder
	a marker in intron 4 specifically associated to schizophrenia
	region of hemizygosity including TCF4, NETO1, and FBXO15 significantly more likely to exhibit autistic-like behaviors
	rs17089887 and rs17089925 strongly associated with Fuchs' corneal dystrophy (
	association of TCF4 (rs613872, rs9954153, rs2286812 )wih Fuchs' corneal dystrophy

Candidate gene	for severe mental retardation in del18q
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial visual anterior chamber targeted (CAG)7 ASO (antisense oligonucleotide) treatment reduces gain-of-function RNA toxicity induced by TCF4 CTG18.1 expansion, in a cellular and human genomic context

ANIMAL & CELL MODELS

	Tcf4(-/-) mice have disrupted pontine nucleus development (
	Tcf3/4-null primary mouse keratinocyte cultures show a growth defect, with inability to maintain long-term epidermal homeostasis (Nguyen 2009)