AlphaFold predicted structure
LRIT3 · Q3SXY7
Mean pLDDT
69.6/ 100
Low
679 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)24%
- Low(50–70)8%
- Very low(< 50)33%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
LRIT3
Chr 4q25leucine rich repeat, Ig-like and transmembrane domains 3
- Aliases:
- FLJ44691, FIGLER4, CSNB1F
- MANE:
- ENST00000594814.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital stationary night blindness
0.62Stargardt disease
0.43congenital stationary night blindness, recessive
0.37Retinal dystrophy
0.29Abnormal sputum
0.25atrial fibrillation
0.23hereditary disease
0.19optic atrophy
0.15prostate carcinoma
0.10myopia
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3
Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells (By similarity). Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina (PubMed:28334377). Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). Seems to play a specific role in synaptic contacts made by ON-bipolar cells with cone photoreceptor pedicles (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519)
Diseases associated with LRIT3
Curated MONDO disease pages that list LRIT3 among their top associated genes.