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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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IMPG2
interphotoreceptor matrix proteoglycan 2
Chromosome 3 Β· 3q12.3
NCBI Gene: 50939Ensembl: ENSG00000081148.12HGNC: HGNC:18362UniProt: F1T0J3
21PubMed Papers
22Diseases
0Drugs
141Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
gel phase of interstitial matrixsignaling receptor complexheparin bindinghyaluronic acid bindingretinitis pigmentosaretinitis pigmentosa 56vitelliform macular dystrophy 5Retinal dystrophy
✦AI Summary

IMPG2 is a chondroitin sulfate- and hyaluronic acid-binding proteoglycan that functions as a critical structural component of the interphotoreceptor matrix (IPM), the extracellular mesh surrounding photoreceptor outer and inner segments 1. IMPG2 undergoes proteolytic maturation in its SEA domain, generating membrane-attached and extracellular peptides that traffic from inner to outer segment IPM in an IMPG1-dependent manner 2. This proteolysis is essential for normal IPM organization and cone-specific glycocalyx formation 1. Mechanistically, IMPG2 loss-of-function impairs photoreceptor homeostasis through multiple pathways. In mouse models, Impg2 deletion causes progressive degeneration of both rod and cone photoreceptors, mislocalization of rhodopsin, and activation of endoplasmic reticulum (ER) stress responses including elevated CHOP, BIP, and PDI levels, alongside impaired autophagy 3. Critically, IMPG2 absence prevents proper IMPG1 integration into the IPM, leading to aberrant IMPG1 accumulation and subretinal lesion formation 1. Clinically, IMPG2 variants cause inherited retinal dystrophies with variable penetrance. Mono-allelic variants manifest as vitelliform maculopathy with foveal elevation and subretinal material accumulation, often remaining stable or partially resolving with preserved moderate vision 4. Biallelic mutations cause early-onset severe retinitis pigmentosa with photoreceptor outer segment loss in human disease 5. IMPG2 mutations represent a notable genetic cause of pediatric inherited retinal disease 6.

Sources cited
1
IMPG2 is a chondroitin sulfate-containing proteoglycan in the IPM; IMPG2 shapes IPM structure and proper localization prevents subretinal lesions
PMID: 32265257
2
IMPG2 undergoes proteolysis in the SEA domain; proteolytic products include extracellular peptides that traffic to outer segment IPM dependent on IMPG1
PMID: 36109576
3
Impg2 knockout causes progressive rod and cone photoreceptor degeneration with ER stress markers (CHOP, BIP, PDI), impaired autophagy, and rhodopsin mislocalization
PMID: 32242237
4
Mono-allelic IMPG2 variants cause maculopathy with variable penetrance, foveal elevation, and vitelliform lesions that often remain stable with moderate vision preservation
PMID: 37806544
5
IMPG2 mutations in humans cause early-onset retinitis pigmentosa with photoreceptor outer segment loss; loss of IMPG2 expression or post-translational modification disrupts OS formation
PMID: 36206764
6
IMPG2 variants are identified as a genetic cause of inherited retinal dystrophy in pediatric populations
PMID: 39596324
Disease Associationsβ“˜22
retinitis pigmentosaOpen Targets
0.72Strong
retinitis pigmentosa 56Open Targets
0.70Strong
vitelliform macular dystrophy 5Open Targets
0.64Moderate
Retinal dystrophyOpen Targets
0.57Moderate
autosomal recessive retinitis pigmentosaOpen Targets
0.51Moderate
vitelliform macular dystrophy 2Open Targets
0.47Moderate
IMPG2-related recessive retinopathyOpen Targets
0.44Moderate
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.42Moderate
adult-onset foveomacular vitelliform dystrophyOpen Targets
0.38Weak
vitelliform macular dystrophyOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
Cone rod dystrophyOpen Targets
0.36Weak
Bardet-Biedl syndromeOpen Targets
0.34Weak
cone-rod dystrophyOpen Targets
0.34Weak
Macular dystrophyOpen Targets
0.34Weak
Abnormality of the eyeOpen Targets
0.33Weak
atrial fibrillationOpen Targets
0.30Weak
Urethral strictureOpen Targets
0.30Weak
urinary system diseaseOpen Targets
0.29Weak
vitelliform macular dystrophy 3Open Targets
0.27Weak
Macular dystrophy, vitelliform, 5UniProt
Retinitis pigmentosa 56UniProt
Pathogenic Variants141
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)Pathogenic
Retinitis pigmentosa|not provided|Autosomal recessive retinitis pigmentosa|Retinal dystrophy|Vitelliform macular dystrophy 5|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1088
NM_016247.4(IMPG2):c.1658del (p.Val553fs)Pathogenic
not provided|Vitelliform macular dystrophy 5
β˜…β˜…β˜†β˜†2025β†’ Residue 553
NM_016247.4(IMPG2):c.829-1G>TPathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)Pathogenic
Retinitis pigmentosa 56|not provided|Retinal dystrophy|Vitelliform macular dystrophy 5
β˜…β˜…β˜†β˜†2025β†’ Residue 906
NM_016247.4(IMPG2):c.3229dup (p.Cys1077fs)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1077
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 755
NM_016247.4(IMPG2):c.3023-6_3030dupPathogenic
Retinitis pigmentosa|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025
NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1158
NM_016247.4(IMPG2):c.667-1G>APathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 56
β˜…β˜…β˜†β˜†2025
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 527
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter)Pathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 56
β˜…β˜…β˜†β˜†2025β†’ Residue 530
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter)Pathogenic
Retinal dystrophy|Retinitis pigmentosa 56|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 137
NM_016247.4(IMPG2):c.1818dup (p.Gln607fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 607
NM_016247.4(IMPG2):c.583+1G>CPathogenic
not provided|Retinitis pigmentosa 56
β˜…β˜…β˜†β˜†2024
NM_016247.4(IMPG2):c.2269dup (p.Glu757fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 757
NM_016247.4(IMPG2):c.828+1G>APathogenic
not provided|Retinitis pigmentosa 56
β˜…β˜…β˜†β˜†2024
NM_016247.4(IMPG2):c.3490G>T (p.Glu1164Ter)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1164
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)Pathogenic
not provided|Retinitis pigmentosa|Autosomal recessive retinitis pigmentosa|Vitelliform macular dystrophy 5
β˜…β˜…β˜†β˜†2024β†’ Residue 758
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)Pathogenic
not provided|Vitelliform macular dystrophy 5|Autosomal recessive retinitis pigmentosa
β˜…β˜…β˜†β˜†2024β†’ Residue 171
NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter)Likely pathogenic
Retinal dystrophy|Retinitis pigmentosa 56
β˜…β˜…β˜†β˜†2024β†’ Residue 580
View on ClinVar β†—
Related Genes
ROM1Shared pathway100%PRR4Shared pathway100%AIPL1Shared pathway100%RAXShared pathway100%NYXShared pathway100%EYSProtein interaction86%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
86%
Heart
60%
Lung
58%
Liver
56%
Brain
27%
Gene Interaction Network
Click a node to explore
IMPG2ROM1PRR4AIPL1RAXNYXEYS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BZV3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.53–0.77]
RankingsWhere IMPG2 stands among ~20K protein-coding genes
  • #13,930of 20,598
    Most Researched21
  • #539of 5,498
    Most Pathogenic Variants141 Β· top 10%
  • #6,280of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedIMPG2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
IMPG2-Related Maculopathy.
PMID: 37806544
Am J Ophthalmol Β· 2024
0.90
3
Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice.
PMID: 32242237
Hum Mol Genet Β· 2020
0.80
4
Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.
PMID: 11726612
Invest Ophthalmol Vis Sci Β· 2001
0.70
5
Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 proteolyze in the SEA domain and reveal localization mutual dependency.
PMID: 36109576
Sci Rep Β· 2022
0.60