IMPG2

Expressed in the retina 17 weeks post-conception (at protein level) (PubMed:29777959). Expressed in the outer neuroblastic zone and retinal pigment epithelium (at protein level) (PubMed:29777959).

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.

Retinitis pigmentosa 56

RP56

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Macular dystrophy, vitelliform, 5

VMD5

A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity.

None

The disease is caused by variants affecting the gene represented in this entry.

Highly glycosylated (N- and O-linked carbohydrates).

Expressed in the retina (at protein level) (PubMed:10702256, PubMed:29777959). Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones (at protein level) (PubMed:10542133, PubMed:29777959). IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina (PubMed:10542133). Expressed in the pineal gland (at protein level) (PubMed:10702256).

• Photoreceptor outer segment membrane
• Single-pass type I membrane protein
• Photoreceptor inner segment membrane
• Single-pass type I membrane protein
• Secreted
• Extracellular space
• Extracellular matrix
• Interphotoreceptor matrix

IPM200, IMPG2, Interphotoreceptor matrix proteoglycan 2, Interphotoreceptor matrix proteoglycan of 200 kDa, Sialoprotein associated with cones and rods proteoglycan, IPM 200, Spacrcan

• entrezGene:50939
• omim:607056
• swissprot:Q9BZV3

Proteins

138621Da