Identity
HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
GP147,IPM150,SPACR,VMD4
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: 3617
MIM: 602870
HGNC: 6055
Ensembl: ENSG00000112706
Variants:
dbSNP: 3617
ClinVar: 3617
TCGA: ENSG00000112706
COSMIC: IMPG1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112706 | ENST00000369950 | Q17R60 |
| ENSG00000112706 | ENST00000369952 | Q5JSC4 |
| ENSG00000112706 | ENST00000369963 | A0A0R4J2E9 |
| ENSG00000112706 | ENST00000611179 | A0A087WYL3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32817297 | 2021 | Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. | 9 |
| 32817297 | 2021 | Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. | 9 |
| 29777959 | 2018 | Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix. | 23 |
| 29777959 | 2018 | Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix. | 23 |
| 25085631 | 2014 | Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. | 21 |
| 25085631 | 2014 | Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. | 21 |
| 23993198 | 2013 | Mutations in IMPG1 cause vitelliform macular dystrophies. | 27 |
| 23993198 | 2013 | Mutations in IMPG1 cause vitelliform macular dystrophies. | 27 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 16354621 | 2005 | Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. | 2 |
| 16354621 | 2005 | Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. | 2 |
| 14691150 | 2004 | The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. | 7 |
Citation
Dessen P
IMPG1 (interphotoreceptor matrix proteoglycan 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64613/
