Gene: IMPG2

Alternate names for this Gene: IPM200|RP56|SPACRCAN|VMD5

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q12.3

Description of this Gene: interphotoreceptor matrix proteoglycan 2

Type of Gene: protein-coding

rs758291149 in IMPG2 gene and Abnormality of the eye PMID 20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

rs503734 in IMPG2 gene and Crohn Disease PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs503734 in IMPG2 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs201893545 in IMPG2 gene and MACULAR DYSTROPHY, VITELLIFORM, 5 PMID 20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

PMID 25085631 2014 Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

PMID 28644393 2017 Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.

rs267606875 in IMPG2 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs758291149 in IMPG2 gene and Retinal Dystrophies PMID 20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.