Gene Report

Basic Info
Approved Symbol TCF4
Symbol Alias SEF2-1B, ITF2, bHLHb19, E2-2
Approved Name transcription factor 4
Location 18q21.1
Position chr18:55222198-55664787, -1
External Links HGNC: 11634
Entrez Gene: 6925
Ensembl: ENSG00000196628
UCSC: uc002lga.3
No. of Studies 6 (Positive: 1; Negative: 5; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 6)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Del-Favero, J.,2002 Other variant: TCF4_CTG18.1 Expanded alleles at the CTG18.1 locus cannot be excluded as a vulnerability factor for BP disorder. Positive Comment on Study
McInnis, M. G.,2000 Other variant: TCF4_CTG18.1 There are no data to implicate the CTG18.1 repeat within the SEF2-1b gene, and the current study indicates that CTG18.1 is unlikely to make a substantial contribution to vulnerability to these disorders, though a minor contribution can not be ruled out. Negative Comment on Study
Williams, H. J.,2011 SNP: rs9960767 Using data sets entirely independent of their original discoveries, we observed no significant evidence (P < 0.05) that the TCF4 region is associated with BD. Negative Comment on Study
Steinberg, S.,2012 SNP: rs4309482, rs9960767 No significant association was observed. Negative Comment on Study
Meira-Lima, I. V.,2001 Other variant: TCF4_CAG/CTG repeat Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci SEF2-1b influence susceptibility to BPAD in our sample. Negative Comment on Study
Jin, D. K.,2001 Other variant: TCF4_CTG18.1 A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 19)

GO terms by PBA (count: 3)

GO terms by database search (count: 16)

Gene related KEGG pathways (count: 9)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 7)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 21)

Related other genetic factors
Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Gene related regions (count: 8)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Overlap with SZ from candidate gene intersection analysis (count: 5)

Gene relationship with MDD

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Region: chr18:55222198..55664787 View in gBrowse
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