Identity
HGNC
LOCATION
3q12.3
LOCUSID
ALIAS
IPM200,RP56,SPACRCAN,VMD5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 50939
MIM: 607056
HGNC: 18362
Ensembl: ENSG00000081148
Variants:
dbSNP: 50939
ClinVar: 50939
TCGA: ENSG00000081148
COSMIC: IMPG2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000081148 | ENST00000193391 | Q9BZV3 |
| ENSG00000081148 | ENST00000193391 | F1T0J3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37806544 | 2024 | IMPG2-Related Maculopathy. | 1 |
| 37806544 | 2024 | IMPG2-Related Maculopathy. | 1 |
| 34990796 | 2022 | Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family. | 1 |
| 35608844 | 2022 | Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy. | 8 |
| 34990796 | 2022 | Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family. | 1 |
| 35608844 | 2022 | Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy. | 8 |
| 30300315 | 2021 | ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. | 4 |
| 30300315 | 2021 | ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. | 4 |
| 31264916 | 2019 | Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations. | 9 |
| 31694913 | 2019 | The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors. | 14 |
| 31264916 | 2019 | Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations. | 9 |
| 31694913 | 2019 | The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors. | 14 |
| 24876279 | 2014 | IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. | 18 |
| 25085631 | 2014 | Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. | 21 |
| 24876279 | 2014 | IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. | 18 |
Citation
Dessen P
IMPG2 (interphotoreceptor matrix proteoglycan 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54378/impg2-(interphotoreceptor-matrix-proteoglycan-2)
