TGIF1

Chr 18p11.31

TGFB induced factor homeobox 1

MANE:: ENST00000343820.10

OMIM: 602630 ↗NCBI: 7050 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TGIF1 · Q15583

v62025-08-01

Predicted Aligned Error matrix for TGIF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.1/ 100

Low

401 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)8%
Low(50–70)22%
Very low(< 50)52%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Neural Tube Defects
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

holoprosencephaly
0.80
neurodegenerative disease
0.53
holoprosencephaly 5
0.38
alobar holoprosencephaly
0.38
microform holoprosencephaly
0.38
midline interhemispheric variant of holoprosencephaly
0.38
semilobar holoprosencephaly
0.38
lobar holoprosencephaly
0.38
septopreoptic holoprosencephaly
0.38
colorectal adenocarcinoma
0.34

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

Protein function (UniProt)

Homeobox protein TGIF1

Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities