TCF7L1

Chr 2p11.2

transcription factor 7 like 1

MANE:: ENST00000282111.4

OMIM: 604652 ↗NCBI: 83439 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TCF7L1 · Q9HCS4

v62025-08-01

Predicted Aligned Error matrix for TCF7L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.8/ 100

Low

588 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)5%
Low(50–70)21%
Very low(< 50)65%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Pituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.53
peripheral vascular disease
0.29
major salivary gland cancer
0.24
preeclampsia
0.19
polycystic ovary syndrome
0.19
hypopituitarism
0.19
coronary atherosclerosis
0.18
type 1 diabetes nephropathy
0.17
fracture of pelvis
0.17
coronary artery disorder
0.17

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor 7-like 1

Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance