AlphaFold predicted structure
TCF4 · P15884
Mean pLDDT
51.1/ 100
Low
667 residues
Confidence breakdown
- Very high(≥ 90)12%
- Confident(70–90)6%
- Low(50–70)13%
- Very low(< 50)69%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TCF4
Chr 18q21.2transcription factor 4
- Aliases:
- SEF2-1B, ITF2, bHLHb19, E2-2
- MANE:
- ENST00000354452.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Corneal dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Pitt-Hopkins syndrome
0.85corneal dystrophy, Fuchs endothelial, 3
0.69Fuchs endothelial corneal dystrophy
0.62hereditary disease
0.55major depressive disorder
0.53Abnormality of the skeletal system
0.51autism spectrum disorder
0.51schizophrenia
0.51Fuchs' endothelial dystrophy
0.51Intellectual disability
0.49
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Transcription factor 4
Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'
Diseases associated with TCF4
Curated MONDO disease pages that list TCF4 among their top associated genes.