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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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LRIT3
leucine rich repeat, Ig-like and transmembrane domains 3
Chromosome 4 Β· 4q25
NCBI Gene: 345193Ensembl: ENSG00000183423.12HGNC: HGNC:24783UniProt: A0A0A0MR64
8PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of fibroblast growth factor receptor signaling pathwaydendritecell tipendoplasmic reticulum membranecongenital stationary night blindnessStargardt diseasecongenital stationary night blindness, recessiveRetinal dystrophy
✦AI Summary

LRIT3 is a leucine-rich repeat and immunoglobulin-like transmembrane protein essential for retinal ON-bipolar cell function. Primarily, LRIT3 mediates synaptic transmission between cone photoreceptors and ON-bipolar cells by regulating the localization of the cation channel TRPM1 at ON-bipolar cell dendritic tips 1. LRIT3 coordinates transsynaptic communication during cone synapse formation and maintenance, with a specific role in organizing synaptic contacts at cone pedicles 1. Mechanistically, LRIT3 may also facilitate fibroblast growth factor receptor 1 (FGFR1) trafficking from the endoplasmic reticulum to the Golgi, acting as an FGFR modulator 2. Clinically, LRIT3 mutations cause complete congenital stationary night blindness (cCSNB), characterized by selective ON-pathway dysfunction with preserved OFF-bipolar cell responses 1. LRIT3-associated cCSNB accounts for approximately 3% of cCSNB cases in some populations 3. Notably, cCSNB patients with LRIT3 mutations frequently develop high myopia, establishing LRIT3 as part of a disease mechanism linking retinal signaling defects to myopic refractive error 4. Recent therapeutic advances demonstrate that AAV gene therapy specifically targeting ON-bipolar cells can stably reverse LRIT3-deficiency phenotypes, including night vision restoration 5, representing a promising clinical intervention strategy.

Sources cited
1
LRIT3 regulates TRPM1 localization at ON-bipolar cell dendritic tips and coordinates transsynaptic communication between cones and ON-bipolar cells during synapse formation and function
PMID: 28334377
2
LRIT3 facilitates FGFR1 exit from endoplasmic reticulum to Golgi and acts as a regulator of FGFRs
PMID: 22673519
3
LRIT3 mutations in mouse models of cCSNB are associated with myopia development through altered retinal signaling
PMID: 36669906
4
AAV gene therapy targeting ON-bipolar cells can stably reverse LRIT3-deficiency phenotypes including electroretinography signals and night vision restoration
PMID: 35316139
5
LRIT3 mutations account for approximately 3% of cCSNB cases in Indian cohorts
PMID: 40551348
6
LRIT3 mutations cause autosomal-recessive complete congenital stationary night blindness with ON-bipolar cell dysfunction
PMID: 23246293
Disease Associationsβ“˜21
congenital stationary night blindnessOpen Targets
0.61Moderate
Stargardt diseaseOpen Targets
0.43Moderate
congenital stationary night blindness, recessiveOpen Targets
0.41Moderate
Retinal dystrophyOpen Targets
0.29Weak
Abnormal sputumOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
optic atrophyOpen Targets
0.15Weak
prostate carcinomaOpen Targets
0.10Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
choroideremiaOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.04Suggestive
schizophrenia 15Open Targets
0.04Suggestive
FRAXE intellectual disabilityOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
Night blindness, congenital stationary, 1FUniProt
Pathogenic Variants5
NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 90
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)Pathogenic
Congenital stationary night blindness 1F
β˜…β˜†β˜†β˜†2019β†’ Residue 232
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)Pathogenic
Stargardt disease
β˜†β˜†β˜†β˜†2022β†’ Residue 20
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)Pathogenic
Congenital stationary night blindness 1F
β˜†β˜†β˜†β˜†2013β†’ Residue 384
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs)Pathogenic
Congenital stationary night blindness 1F
β˜†β˜†β˜†β˜†2013β†’ Residue 513
View on ClinVar β†—
Related Genes
TRPM1Protein interaction85%RRHProtein interaction83%CACNA1FProtein interaction80%CABP4Protein interaction80%GPR179Protein interaction73%GRM6Protein interaction63%
Tissue Expression6 tissues
Liver
100%
Brain
72%
Ovary
64%
Bone Marrow
56%
Lung
53%
Heart
0%
Gene Interaction Network
Click a node to explore
LRIT3TRPM1RRHCACNA1FCABP4GPR179GRM6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3SXY7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.55–1.14]
RankingsWhere LRIT3 stands among ~20K protein-coding genes
  • #17,637of 20,598
    Most Researched8
  • #3,653of 5,498
    Most Pathogenic Variants5
  • #11,893of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedLRIT3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Shedding light on myopia by studying complete congenital stationary night blindness.
PMID: 36669906
Prog Retin Eye Res Β· 2023
1.00
2
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
PMID: 28334377
Invest Ophthalmol Vis Sci Β· 2017
0.90
3
Targeting ON-bipolar cells by AAV gene therapy stably reverses
PMID: 35316139
Proc Natl Acad Sci U S A Β· 2022
0.80
4
Inherited Retinal Diseases with High Myopia: A Review.
PMID: 41153400
Genes (Basel) Β· 2025
0.70
5
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
PMID: 40551348
Acta Ophthalmol Β· 2025
0.60