IMPG2 Gene - Interphotoreceptor Matrix Proteoglycan 2
Essential component of the interphotoreceptor matrix, associated with retinal dystrophies
Gene Information Card
| Symbol | IMPG2 |
|---|---|
| Full Name | Interphotoreceptor Matrix Proteoglycan 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q12.2-q12.3 |
| NCBI Gene ID | 50939 ncbi.nlm.nih.gov/gene/50939 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | Q9BXP8 |
| OMIM ID | 607056 |
| HGNC ID | 14487 |
| Aliases | SPACRCAN, MGC138207, MGC138209 |
Description
The IMPG2 gene encodes interphotoreceptor matrix proteoglycan 2, a component of the extracellular matrix surrounding photoreceptor cells in the retina. This proteoglycan is involved in maintaining retinal adhesion and photoreceptor survival. Mutations in IMPG2 are associated with autosomal recessive retinitis pigmentosa and vitelliform macular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (RP56) | Loss-of-function mutations disrupt interphotoreceptor matrix integrity, leading to photoreceptor degeneration | ClinVar, OMIM |
| Vitelliform macular dystrophy (VMD) | Mutations impair matrix adhesion, causing accumulation of lipofuscin-like material in the macula | ClinVar, OMIM |
| Cone-rod dystrophy | Disruption of matrix function affects cone and rod photoreceptor survival | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 24.5 | High |
| Testis | 1.2 | Low |
| Brain | 0.8 | Low |
| Lung | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.3 | Moderate expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
| SH-SY5Y (neuroblastoma) | 0.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.359G>A (p.Trp120*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.1070T>C (p.Leu357Pro) | Missense | Rare | Disrupts protein folding; associated with vitelliform macular dystrophy |
| c.1465C>T (p.Arg489*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, causing retinitis pigmentosa
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • external encapsulating structure (GO:0030312) |
| • cell adhesion (GO:0007155) | • visual perception (GO:0007601) |
| • lens development in camera-type eye (GO:0002088) |
Pathways
• Interphotoreceptor matrix organization
• Photoreceptor cell maintenance
Protein Summary
Interphotoreceptor matrix proteoglycan 2 is a secreted protein that localizes to the interphotoreceptor matrix, where it binds hyaluronic acid and contributes to the structural integrity of the matrix. It is essential for photoreceptor adhesion and survival. The protein contains a hyaluronan-binding domain and multiple glycosaminoglycan attachment sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IMPG2 Knockout HEK293 Cell Line | EDJ-KQ10851 | Human | 50939 | Details Get a Quote |
| IMPG2 Knockout HeLa Cell Line | EDJ-KQ77945 | Human | 50939 | Details Get a Quote |
| IMPG2 Knockout A-549 Cell Line | EDJ-KQ77946 | Human | 50939 | Details Get a Quote |
| IMPG2 Knockout HCT 116 Cell Line | EDJ-KQ77947 | Human | 50939 | Details Get a Quote |
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