Identity
HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
ARHGEF30,UNC89
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: 84033
MIM: 608616
HGNC: 15719
Ensembl: ENSG00000154358
Variants:
dbSNP: 84033
ClinVar: 84033
TCGA: ENSG00000154358
COSMIC: OBSCN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38127465 | 2024 | Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation. | 0 |
| 38159459 | 2024 | Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis. | 0 |
| 38127465 | 2024 | Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation. | 0 |
| 38159459 | 2024 | Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis. | 0 |
| 34826548 | 2022 | Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer. | 6 |
| 34957489 | 2022 | Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. | 4 |
| 34826548 | 2022 | Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer. | 6 |
| 34957489 | 2022 | Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. | 4 |
| 33438037 | 2021 | When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. | 12 |
| 34601892 | 2021 | Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy. | 3 |
| 33438037 | 2021 | When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. | 12 |
| 34601892 | 2021 | Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy. | 3 |
| 33042279 | 2020 | Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy. | 17 |
| 33042279 | 2020 | Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy. | 17 |
| 30666746 | 2019 | Obscurin is a semi-flexible molecule in solution. | 1 |
Citation
Dessen P
OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43385/obscn-(obscurin-cytoskeletal-calmodulin-and-titin-interacting-rhogef)
