Identity
HGNC
LOCATION
10p13
LOCUSID
ALIAS
ALS12,FIP2,GLC1E,HIP7,HYPL,NRP,TFIIIA-INTP
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: 10133
MIM: 602432
HGNC: 17142
Ensembl: ENSG00000123240
Variants:
dbSNP: 10133
ClinVar: 10133
TCGA: ENSG00000123240
COSMIC: OPTN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37904275 | 2024 | Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population. | 1 |
| 38287189 | 2024 | Optineurin provides a mitophagy contact site for TBK1 activation. | 3 |
| 38350370 | 2024 | Roles and mechanisms of optineurin in bone metabolism. | 0 |
| 38411425 | 2024 | [Optineurin and mitochondrial dysfunction in neurodegeneration]. | 0 |
| 38872230 | 2024 | Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. | 0 |
| 37904275 | 2024 | Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population. | 1 |
| 38287189 | 2024 | Optineurin provides a mitophagy contact site for TBK1 activation. | 3 |
| 38350370 | 2024 | Roles and mechanisms of optineurin in bone metabolism. | 0 |
| 38411425 | 2024 | [Optineurin and mitochondrial dysfunction in neurodegeneration]. | 0 |
| 38872230 | 2024 | Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. | 0 |
| 36631201 | 2023 | Regulation of transferrin receptor trafficking by optineurin and its disease-associated mutants. | 4 |
| 36705529 | 2023 | A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal cells to endoplasmic reticulum stress and tumour necrosis factor α. | 1 |
| 36823950 | 2023 | Differential optineurin expression controls TGFβ signaling and is a key determinant for metastasis of triple negative breast cancer. | 1 |
| 37352136 | 2023 | Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection. | 1 |
| 37439113 | 2023 | Deciphering the mitophagy receptor network identifies a crucial role for OPTN (optineurin) in acute myeloid leukemia. | 2 |
Citation
Dessen P
OPTN (optineurin)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/41609/optn
