1. Gene
  2. IMPG2 - interphotoreceptor matrix proteoglycan 2 Gene

IMPG2 - interphotoreceptor matrix proteoglycan 2 Gene

Homo sapiens

Also known as RP56; VMD5; IPM200; SPACRCAN

Gene ID: 50939 | Gene type: protein coding

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

IMPG2 Protein Structure

SEA

SEA: SEA domain (240 - 334)

SEA

SEA: SEA domain (900 - 1000)

  • 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

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