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

Homo sapiens

Also known as CSNB1F; FIGLER4

Gene ID: 345193 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07790	LRIT3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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