LRIT3 (leucine rich repeat, Ig-like and transmembrane domains 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
345193
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeat, Ig-like and transmembrane domains 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRIT3
Synonyms (NCBI Gene) Gene synonyms aliases
CSNB1F, FIGLER4
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs376610215 G>A Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs397509378 C>A,T Pathogenic Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs397509379 C>G Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs397509380 CT>- Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(65)
miRTarBase ID miRNA Experiments Reference
MIRT443953 hsa-miR-4677-3p PAR-CLIP 22100165
MIRT443952 hsa-miR-143-3p PAR-CLIP 22100165
MIRT443950 hsa-miR-4770 PAR-CLIP 22100165
MIRT443951 hsa-miR-6088 PAR-CLIP 22100165
MIRT443949 hsa-miR-4708-5p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0007601 Process Visual perception IEA
GO:0007601 Process Visual perception IEA
GO:0008104 Process Intracellular protein localization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615004 24783 ENSG00000183423
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q3SXY7
Protein name Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3
Protein function 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-b
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 59 → 117 Leucine rich repeat Repeat
PF13855 LRR_8 129 → 181 Leucine rich repeat Repeat
PF13927 Ig_3 253 → 332 Domain
Tissue specificity TISSUE SPECIFICITY: Detected in the outer plexiform layer (OPL) of the retina where it localizes to ON-bipolar cells (at protein level). {ECO:0000269|PubMed:23246293}.
Sequence 
MHLFACLCIVLSFLEGVGCLCPSQCTCDYHGRNDGSGSRLVLCNDMDMNELPTNLPVDTV
KLRIEKTVIRRISAEAFYYLVELQYLWVTYNSVASIDPSSFYNLKQLHELRLDGNSLAAF
PWASLLDMPLLRTLDLHNNKITSVPNEALRYLKNLAYLDLSSNRLTTLPPDFLESWTHLV
STPSGVLDLSPSRIILGLQDNPWFCDCHISKMIELSKVVDPAIVLLDPLMTCSEPERLTG
ILFQRAELEHCLKPSVMTSATKIMSALGSNVLLRCDATGFPTPQITWTRSDSSPVNYTVI
QESPEEGVRWSIMSLTGISSKDAGDYKCKAKNLAGMSEAVVTVTVLGITTTPIPPDTSER
TGDHPEWDVQPGSGRSTSVSSASSYLWSSSFSPTSSFSASTLSPPSTASFSLSPFSSSTV
SSTTTLSTSISASTTMANKRSFQLHQGGKRNLKVAKNGSKLPPASTSKKEELALLDQTML
TETNAAIENLRVVSETKESVTLTWNMINTTHNSAVTVLYSKYGGKDLLLLNADSSKNQVT
IDGLEPGGQYMACVCPKGVPPQKDQCITFSTERVEGDDSQWSLLLVVTSTACVVILPLIC
FLLYKVCKLQCKSEPFWEDDLAKETYIQFETLFPRSQSVGELWTRSHRDDSEKLLLCSRS
SVESQVTFKSEGSRPEYYC
Sequence length 679
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital stationary night blindness Congenital stationary night blindness 1F rs397509379, rs397509380 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Optic Atrophy optic atrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Night blindness congenital stationary Associate 23246293, 24715752