Aliases:
Chromosome No: 2
Chromosome Band: 2p11.2
Genetic Category: Functional-Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 0
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
DeNovoWest analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in Tan et al., 2026 identified TCF7L1 as an ASD risk gene with a false discovery rate of <0.05; among the ASD-associated variants used in this analysis were three de novo loss-of-function variants (one identified in an ASC proband, with the other two in SPARK probands) and three de novo missense variants (one each from the Simons Simplex Collection, the Autism Sequencing Consortium, and the SPARK cohort).
Molecular Function
This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence.
External Links
