IMPG2 interphotoreceptor matrix proteoglycan 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IMPG2provided by HGNC
Official Full Name: interphotoreceptor matrix proteoglycan 2provided by HGNC
Primary source: HGNC:HGNC:18362
See related: Ensembl:ENSG00000081148 MIM:607056; AllianceGenome:HGNC:18362
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP56; VMD5; IPM200; SPACRCAN
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (101222546..101320575, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (103928482..104026449, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (100941390..101039419, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IMPG2-Related Maculopathy.
Title: IMPG2-Related Maculopathy.
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.
Title: Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.
Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family.
Title: Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family.
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.
Title: ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.
Upon disruption of the myosin-tail homology domain, inner segment plasma membrane proteins, including syntaxin 3 (STX3), synaptosome-associated protein 25 (SNAP25), and interphotoreceptor matrix proteoglycan 2 (IMPG2), rapidly accumulated in the outer segment.
Title: The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.
IMPG2 mutation is associated with retinal dystrophy.
Title: Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations.
IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families.
Title: Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
Mutations in IMPG2 cause a severe form of retinitis pigmentosa with symptoms manifesting in the first 2 decades of life.
Title: IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
identification of IMPG2 mutations in autosomal-recessive retinitis pigmentosa; data show that mutations in a structural component of the interphotoreceptor matrix can cause autosomal-recessive retinitis pigmentosa
Title: Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
IPM 200 represents the second member of a novel family of retinal proteoglycans suspected to be involved in retinal adhesion and photoreceptor cell survival
Title: Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 56 MedGen: C3150819 OMIM: 613581 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	not available
Vitelliform macular dystrophy 5 MedGen: C4015343 OMIM: 616152 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D3S2486 (e-PCR)
- UniSTS:51747

RH123743 (e-PCR)
- UniSTS:137765

RH36905 (e-PCR)
- UniSTS:87932

RH47629 (e-PCR)
- UniSTS:21958

RH68818 (e-PCR)
- UniSTS:68557

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info
enables hyaluronic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables hyaluronic acid binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in retina morphogenesis in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in interphotoreceptor matrix	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interphotoreceptor matrix proteoglycan 2

Names: IPM 200; interphotoreceptor matrix proteoglycan IPM 200; interphotoreceptor matrix proteoglycan of 200 kDa; sialoprotein associated with cones and rods proteoglycan

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.