Ask about this productRelated genes to: IMPG2 antibody
- Gene:
- IMPG2 NIH gene
- Name:
- interphotoreceptor matrix proteoglycan 2
- Previous symbol:
- -
- Synonyms:
- IPM200, RP56
- Chromosome:
- 3q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-03-15
- Date modifiied:
- 2016-10-05
Related products to: IMPG2 antibody
Related articles to: IMPG2 antibody
- Inherited retinal diseases (IRDs) typically follow a single inheritance pattern, but some genes cause disease through both autosomal recessive (AR) and autosomal dominant (AD) patterns, challenging genetic counselling. This study aims to identify dual inheritance genes in a Portuguese cohort and characterise the prevalence of each inheritance mode and associated phenotypes. - Source: PubMed
Publication date: 2026/06/19
Francisco Mariana FerreiraGaspar BeatrizSilva RufinoCarvalho Ana LuísaMarques João Pedro - Medulloblastoma is one of the most common malignant pediatric brain tumors. There remain significant challenges in investigating oncogenic mechanisms and evaluating therapeutic efficacy due to the limited available models that accurately reflect tumor heterogeneity. To overcome this limitation, we established 10 patient-derived medulloblastoma organoids (MBOs) that retain the histological characteristics, and cellular diversity of the original tumors. These MBOs demonstrate strong infiltration capabilities, both through co-culture with human embryonic stem cell-derived cerebral organoids and following orthotopic or subcutaneous transplantation, establishing a potential platform for investigating interactions within the tumor microenvironment. Using integrated RNA sequencing, whole-exome sequencing, and DNA methylation profiling, we demonstrated that MBOs faithfully preserve the transcriptional, genomic, and epigenetic landscapes of their parental tumors. Single-cell transcriptomic analysis revealed conserved cellular subpopulation between MBOs and primary tumors. Our findings suggest that photoreceptor-related pathways may play an unprecedented role in the pathogenesis of Group 4 medulloblastoma and may be associated with interactions within the tumor microenvironment. Furthermore, we developed a prognostic nomogram based on IMPG2, BNC2, PAPPA2, ITGBL1and UNC13C expression levels in tumor cells to predict survival outcomes. Notably, tumor-infiltrating lymphocytes (TILs) expanded from patient specimens exhibited significant cytotoxic activity against autologous MBOs co-cultured and effectively suppressed the growth of subcutaneous MBO xenografts . These findings demonstrate the potential of TIL-based immunotherapy for medulloblastoma treatment. Collectively, our MBO system faithfully recapitulates critical tumor characteristics and serves as a valuable platform for investigating tumorigenic mechanisms and assessing therapeutic responses. This study not only promotes fundamental biological research but also accelerates clinical translation in medulloblastoma. - Source: PubMed
Publication date: 2026/04/23
Zhang JitingWang MinRui HuanwenWang CenLuo GuanghaoNiu ZhiyuanShi WeiZeng JunweiXue PingShi XueyaoYan BingRen WenyanLi HaoLin Xinhua - Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinal dystrophies often accompanied by macular involvement. Variants in are known to cause RP type 56 and vitelliform macular dystrophy type 5, but the pathogenic role of deep intronic variants has rarely been characterized. This study aimed to identify and functionally validate a novel deep intronic variant in a patient with RP. - Source: PubMed
Publication date: 2026/01/22
Zheng GuobingXu ChenxiaXie FenghuaLi QiaoliOu ZhanhuiWang DegangLi Haijun - This narrative review outlines the structure and essential functions of ocular proteoglycans (PGs) in visual processing as documented in the extensive literature on this subject matter. The eye, as one of the most complex sensory organs, relies on the coordinated activity of various tissues and cell types, with PGs playing a central role in facilitating communication and maintaining tissue function. These molecules stabilise ocular tissues; for example, SPACRCAN (IMPG2) and hyaluronan aggregates in the interphotoreceptor matrix protect photoreceptors from oxidative stress. Specialised heparan sulfate PGs, such as pikachurin, eyes-shut, and the neurexin family, stabilise synapses and ensure synaptic specificity and plasticity. Pikachurin is particularly important for the rapid transmission of visual signals at the bipolar ribbon synapse. A diverse array of chondroitin sulfate (aggrecan, versican, neurocan, brevican, phosphacan, NG2), keratan sulfate (SV2), and heparan sulfate (perlecan, agrin, collagen XVIII) PGs are differentially expressed in ocular tissues, contributing to tissue stability and homeostasis. In the cornea, sclera, and choroid, small leucine-rich repeat PGs (SLRPs) maintain three-dimensional structure, corneal transparency, and tissue function through interactions with cytokines and growth factors. The vitreous humour contains opticin and nyctalopin, which support the nutrition of avascular regions and facilitate bipolar ribbon synapse signalling. Ultimately, the effectiveness of the eye as a visual organ depends significantly on the functional roles of its constituent PGs. - Source: PubMed
Publication date: 2026/02/18
Melrose James - We describe a novel missense variant in in a patient with early-onset rod-cone dystrophy with central macular atrophy and evaluate the potential of adenine base editing (ABE) as a therapeutic strategy. Ophthalmic evaluation included ultra-widefield fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. Genetic testing was performed with a targeted next-generation sequencing panel and Sanger confirmation. Variant pathogenicity was assessed using in silico prediction tools, protein stability algorithms, and structural modeling. ABE feasibility was analyzed through PAM site identification and guide RNA design. Genetic testing revealed compound heterozygosity for a pathogenic nonsense variant (c.411G>A; p.Trp137*) and a novel missense variant (c.871C>A; p.Arg291Ser) within the SEA-1 domain. While in silico prediction tools classified p.Arg291Ser as benign or neutral, structural modeling and stability analyses supported a destabilizing effect. Base editing assessment indicated that c.411G>A is targetable with ABE. This case underscores the clinical relevance of domain-specific variants and the limitations of in silico predictions. ABE offers a promising therapeutic option for -associated retinopathy. - Source: PubMed
Publication date: 2026/01/01
Abdalla Elsayed Maram E ABarone VincenzoKaukonen MariaRaybould Matthew I JMacLaren Robert E