InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IMPG2

Summary

InnateDB Protein

IDBP-47662.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IMPG2

Protein Name

interphotoreceptor matrix proteoglycan 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000193391

InnateDB Gene

IDBG-47660 (IMPG2)

Protein Structure

UniProt Annotation

Function

Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light- sensitive photoreceptor outer segment. Binds heparin. {ECO:0000269PubMed:10702256}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Retinitis pigmentosa 56 (RP56) [MIM:613581]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:20673862}. Note=The disease is caused by mutations affecting the gene represented in this entry.Maculopathy, IMPG2-related (MACLP-IMPG2) [MIM:613581]: A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. {ECO:0000269PubMed:20673862}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the retina. Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones. IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina. Detected in the pineal gland. {ECO:0000269PubMed:10542133, ECO:0000269PubMed:10702256}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0005540	hyaluronic acid binding
GO:0008201	heparin binding