Identity
HGNC
LOCATION
Xq12
LOCUSID
ALIAS
ARHGAP41,MRX60,OPN1
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: 4983
MIM: 300127
HGNC: 8148
Ensembl: ENSG00000079482
Variants:
dbSNP: 4983
ClinVar: 4983
TCGA: ENSG00000079482
COSMIC: OPHN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000079482 | ENST00000355520 | O60890 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by Rho GTPases | REACTOME | R-HSA-194315 |
| Rho GTPase cycle | REACTOME | R-HSA-194840 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38956616 | 2024 | Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay. | 0 |
| 38956616 | 2024 | Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay. | 0 |
| 34738630 | 2022 | Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer. | 4 |
| 34738630 | 2022 | Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer. | 4 |
| 33638601 | 2021 | Novel unconventional variants expand the allelic spectrum of OPHN1 gene. | 2 |
| 33638601 | 2021 | Novel unconventional variants expand the allelic spectrum of OPHN1 gene. | 2 |
| 27390894 | 2017 | Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score. | 4 |
| 27390894 | 2017 | Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score. | 4 |
| 27146843 | 2016 | Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability. | 15 |
| 27160703 | 2016 | Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function. | 12 |
| 27742778 | 2016 | Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb. | 11 |
| 27146843 | 2016 | Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability. | 15 |
| 27160703 | 2016 | Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function. | 12 |
| 27742778 | 2016 | Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb. | 11 |
| 24105372 | 2014 | A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations. | 10 |
Citation
Dessen P
OPHN1 (oligophrenin 1)
Atlas Genet Cytogenet Oncol Haematol. 2015-08-01
Online version: http://atlasgeneticsoncology.org/gene/55342/cancer-prone-explorer/
