• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TCF7L2 (HGNC:11641) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transcription factor 7 like 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TCF4
Alias symbols
TCF-4
%HI
0.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.27(Read more about gnomAD LOEUF score)
Cytoband
10q25.2-q25.3
Genomic Coordinates
GRCh37/hg19: chr10:114710006-114927437 NCBI Ensembl UCSC
GRCh38/hg38: chr10:112950247-113167678 NCBI Ensembl UCSC
MANE Select Transcript
NM_001367943.1 ENST00000355995.9 (Read more about MANE Select)
Function
Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30611
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/27/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 25363768
    Iossifov I et al. sequenced exomes from 2,508 children with autistic spectrum disorder (ASD), 1,911 unaffected siblings and the parents of each family. Exome data were analyzed by 3 different institutes. They measured de novo rates in quad families (one affected and one unaffected child) over genomic positions at which all family members had ≥40× sequence coverage. There were 2 de novo gene-disrupting variants in TCF7L2 were detected in 2 different probands (ASD, non-verbal IQ <90) from different families, both of these two variants were on splice-site.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)