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

Also Known as CSNB1F; FIGLER4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 345193

About LRIT3

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:109,848,107-109,872,315 (from NCBI)

This gene has 2 transcripts (splice variants), 247 orthologues, 22 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

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 receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT3 Products (1)

mRNA	Protein	Name
NM_198506.5	NP_940908.3	leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	22673519	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRIT3 Protein Structure

LRR_8

I-set

0
200
400
600
679 a.a.

Protein Preferred Names	Protein Names
leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3	fibronectin type III, immunoglobulin and leucine rich repeat domains 4

Related Diseases

Diseases	Alias
Night Blindness, Congenital Stationary, Type 1f	CSNB1F Congenital Stationary Night Blindness 1f Night Blindness, Congenital Stationary , 1f, Autosomal Recessive Congenital Stationary Night Blindness 1f Autosomal Recessive Night Blindness, Congenital Stationary, 1f Complete Autosomal Recessive Csnb Complete Congenital Stationary Night Blindness 1f Autosomal Recessive Blindness, Night, Stationary, Congenital, Type 1f
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Night Blindness	Nyctalopia
Night Blindness, Congenital Stationary, Type 1b	Congenital Stationary Night Blindness 1b CSNB1B Night Blindness, Congenital Stationary, Complete, Autosomal Recessive Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1b, Autosomal Recessive Autosomal Recessive Complete Congenital Stationary Night Blindness Congenital Stationary Night Blindness 1b Autosomal Recessive Night Blindness, Congenital Stationary, 1b Complete Autosomal Recessive Csnb Complete Congenital Stationary Night Blindness Autosomal Recessive Blindness, Night, Stationary, Congenital, Type 1b
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07790	LRIT3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22617	Lrit3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29132	Lrit3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LRIT3	RGD	RGD:1559637
Mus musculus	LRIT3	MGD	MGI:2685267
Felis catus	LRIT3	VGNC	VGNC:78523
Canis familiaris	LRIT3	VGNC	VGNC:42770
Macaca mulatta	LRIT3	VGNC	VGNC:74347
Bos taurus	LRIT3	VGNC	VGNC:53765
Others	LRIT3	NCBI