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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 nameGene Name - the full gene name approved by the HGNC.
Leucine rich repeat, Ig-like and transmembrane domains 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LRIT3
SynonymsGene synonyms aliases
CSNB1F, FIGLER4
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0007601 Process Visual perception IEA
GO:0016021 Component Integral component of membrane IEA
GO:0030425 Component Dendrite IEA
GO:0040036 Process Regulation of fibroblast growth factor receptor signaling pathway IDA 22673519
Other IDsOther 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
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
Sequence 
MHLFACLCIVLSFLEGVGCLCPSQCTCDYHGRNDGSGSRLVLCNDMDMNELPTNLPVDTV
KLRIEKTVIRRISAEAFYYLVELQYLWVTYNSVASIDPSSFYNLKQLHELRLDGNSLAAF
PWASLLDMPLLRTLDLHNNKITSVPNEALRYLKNLAYLDLSSNRLTTLPPDFLESWTHLV
STPSGVLDLSPSRIILGLQDNPWFCDCHISKMIELSKVVDPAIVLLDPLMTCSEPERLTG
ILFQRAELEHCLKPSVMTSATKIMSALGSNVLLRCDATGFPTPQITWTRSDSSPVNYTVI
QESPEEGVRWSIMSLTGISSKDAGDYKCKAKNLAGMSEAVVTVTVLGITTTPIPPDTSER
TGDHPEWDVQPGSGRSTSVSSASSYLWSSSFSPTSSFSASTLSPPSTASFSLSPFSSSTV
SSTTTLSTSISASTTMANKRSFQLHQGGKRNLKVAKNGSKLPPASTSKKEELALLDQTML
TETNAAIENLRVVSETKESVTLTWNMINTTHNSAVTVLYSKYGGKDLLLLNADSSKNQVT
IDGLEPGGQYMACVCPKGVPPQKDQCITFSTERVEGDDSQWSLLLVVTSTACVVILPLIC
FLLYKVCKLQCKSEPFWEDDLAKETYIQFETLFPRSQSVGELWTRSHRDDSEKLLLCSRS
SVESQVTFKSEGSRPEYYC
Sequence length 679
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital stationary night blindness Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911, rs122456133, rs122456134, rs122456135, rs2147483647, rs104893789, rs104893790, rs104893796, rs121918582, rs104893740, rs80359870, rs387906862, rs786205113, rs772011426, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs397509379, rs397509380, rs61750168, rs281865186, rs281865194, rs150115958, rs786205852, rs786205853, rs786205854, rs778390089, rs869312176, rs879253773, rs879253774, rs886039559, rs886039560, rs886043488, rs1057518829, rs104893793, rs1553186509, rs61751398, rs781463257, rs531851447, rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1555966753, rs1555967281, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs372529012, rs374913800, rs1410075831, rs766780281, rs1555967031, rs1566945534, rs777989874, rs782581701, rs1485132228, rs1567728372, rs1567725425, rs150441866, rs1358925739, rs779821510, rs1590998813, rs1594580431, rs777168556, rs763546583, rs1290420698, rs765645888, rs1596029830, rs1602180478, rs1602180791, rs1602181006, rs1602181043, rs1602181253, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382, rs1596017653, rs769355168, rs1578278438, rs984572250, rs775166854, rs2065717735
Myopia Myopia, Severe myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Disorder of eye Disorder of eye
Hypoplasia of optic disc Hypoplasia of optic disc
Night blindness Night blindness, congenital stationary, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder), Night Blindness, Congenital Stationary, Type 1A, Night blindness, congenital stationary, type 1, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F 23246293, 27428514, 23246293
Nyctalopia Nyctalopia

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