IMPG2 - interphotoreceptor matrix proteoglycan 2 Gene

Also Known as RP56; VMD5; IPM200; SPACRCAN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50939

About IMPG2

Cytogenetic location: 3q12.3 Genomic coordinates (GRCh38): 3:101,222,546-101,320,575 (from NCBI)

This gene has 1 transcript (splice variant), 250 orthologues, 1 paralogue and is associated with 6 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]

IMPG2 Products (1)

mRNA	Protein	Name
NM_016247.4	NP_057331.2	interphotoreceptor matrix proteoglycan 2 precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	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

IMPG2 Protein Structure

SEA

0
200
400
600
800
1000
1241 a.a.

Protein Preferred Names	Protein Names
interphotoreceptor matrix proteoglycan 2	IPM 200

Related Diseases

Diseases	Alias
Macular Dystrophy, Vitelliform, 5	VMD5 Vitelliform Macular Dystrophy 5
Retinitis Pigmentosa 56	RP56 Maculopathy, Impg2-Related MACLP-IMPG2 Retinitis Pigmentosa, Type 56
Macular Dystrophy, Vitelliform, 2	Best Macular Dystrophy Juvenile-Onset Vitelliform Macular Dystrophy VMD2 Bmd Macular Degeneration, Polymorphic Vitelline Best Vitelliform Macular Dystrophy Best Disease Early-Onset Vitelliform Macular Dystrophy Best Vitelliform Macular Dystrophy, Multifocal Bvmd Polymorphic Vitelline Macular Degeneration Vitelliform Macular Dystrophy Type 2 Vitelliform Macular Dystrophy 2 Vitelliform Macular Dystrophy, Early-Onset Vitelliform Macular Dystrophy, Juvenile-Onset Autosomal Recessive Bestrophinopathy Retinopathy, Burgess-Black Type Best'S Macular Dystrophy Vmd Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Macular Dystrophy, Vitelliform, 3	Adult-Onset Vitelliform Macular Dystrophy Avmd Adult-Onset Foveomacular Vitelliform Dystrophy Aofmd VMD3 Vitelliform Macular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset, With Or Without Choroidal Neovascularization Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization Adult-Onset Foveomacular Dystrophy Vitelliform Macular Dystrophy 3 Foveomacular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset Aofmd Macular Dystrophy, Vitelliform, Adult-Onset Adult-Onset Foveomacular Dystrophy With Choroidal Neovascularization Gass Disease Pseudo-Best Disease Pseudo-Vitelliform Macular Dystrophy Gas
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Solar Retinopathy	Solar Retinitis
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Cone-Rod Dystrophy 9	CORD9 Dystrophy, Cone-Rod, Type 9 Retinitis Pigmentosa 9
Chromosome 3q13.31 Deletion Syndrome	3q13 Microdeletion Syndrome Monosomy 3q13 Chromosome 3, Monosomy 3q13 Del(3)(Q13)
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Macular Degeneration, Age-Related, 2	Age Related Macular Degeneration 2 ARMD2 Macular Degeneration, Senile Maculopathy, Age-Related, 2 Macular Degeneration, Age-Related, 2, Susceptibility To Macular Degeneration, Age-Related, Type 2
Retinitis Pigmentosa 89	RP89 Retinitis Pigmentosa, Type 89
Chronic Interstitial Cystitis
Chorioretinal Scar	Chorioretinal Cicatrix Cicatrix Of Choroid Choroid Scar Macula Scar Macular Scarring Retinal Cicatrix Retinal Scar
Retinitis Pigmentosa 88	RP88 Retinitis Pigmentosa, Type 88
Galactosemia Iii	Galactose Epimerase Deficiency Gale Deficiency Udp-Galactose-4-Epimerase Deficiency Epimerase Deficiency Galactosemia Galactosemia Type 3 Gale-D Uridine Diphosphate Galactose-4-Epimerase Deficiency GALAC3 Galactosemia 3 Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency Galactosemia Type Iii Udp-Galactose-4'-Epimerase Deficiency Generalized Galactose Epimerase Deficiency Generalized Gale Deficiency Generalized Gale-D Generalized Udp-Galactose-4-Epimerase Deficiency Generalized Epimerase Deficiency Galactosemia Erythrocyte Galactose Epimerase Deficiency Erythrocyte Gale Deficiency Erythrocyte Gale-D Erythrocyte Udp-Galactose-4-Epimerase Deficiency Erythrocyte Epimerase Deficiency Galactosemia Galactosemias Classical Galactosemia Udpglucose 4-Epimerase Deficiency Disease
Basal Laminar Drusen	Drusen Of Bruch Membrane Drusen, Cuticular Drusen, Early Adult-Onset, Grouped Cuticular Drusen Early Adult-Onset Grouped Drusen BLD Drusen Cuticular Drusen Early Adult-Onset Grouped
Amme Complex	Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis ATS-MR Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Chromosome Xq22.3 Telomeric Deletion Syndrome Amme Syndrome Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06801	IMPG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	IMPG2	VGNC	VGNC:62919
Canis familiaris	IMPG2	VGNC	VGNC:42013
Mus musculus	IMPG2	MGD	MGI:3044955
Bos taurus	IMPG2	VGNC	VGNC:30190
Macaca mulatta	IMPG2	VGNC	VGNC:73622
Rattus norvegicus	IMPG2	RGD	RGD:708358