OPTN Chromosome 10
Optineurin
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What This Gene Does
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Zinc fingers C2HC NEMO-type
Locus Type
gene with protein product
Location
10p13
Ensembl
ENSG00000123240
Associated Conditions (10)
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Glaucoma 1
open angle
E
Inborn genetic diseases
OPTN-related disorder
Motor neuron disease
Ovarian serous cystadenocarcinoma
Amyotrophic lateral sclerosis type 10
Key Variants
RS113811959
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1
Health Risk
RS1371904281
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1
Health Risk
RS142812715
Conflicting classifications of pathogenicity
Motor neuron disease, Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
Health Risk
RS143727251
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1
Health Risk
RS200088838
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1
Health Risk
RS200710076
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1
Health Risk
RS201896586
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Inborn genetic diseases
Health Risk
RS371470839
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Glaucoma 1, open angle
Health Risk
RS542617940
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
Health Risk
RS747481280
Conflicting classifications of pathogenicity
Motor neuron disease, Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
Health Risk
RS75654767
Conflicting classifications of pathogenicity
Glaucoma 1, open angle, E
Health Risk
RS759378585
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113811959 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS1371904281 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS142812715 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma |
| RS143727251 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS200088838 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS200710076 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS201896586 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Inborn genetic diseases |
| RS371470839 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Glaucoma 1, open angle |
| RS542617940 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma |
| RS747481280 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12 |
| RS75654767 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 1, open angle, E |
| RS759378585 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS761196996 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Glaucoma 1, open angle |
| RS771316696 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Inborn genetic diseases |
| RS773095721 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS774245711 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS780011442 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS886046819 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS895824243 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma |
| RS113349726 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Glaucoma 1, open angle |
| RS1357375850 | Health Risk | Likely pathogenic | Primary open angle glaucoma, Glaucoma 1, open angle |
| RS1370982012 | Health Risk | Likely pathogenic | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS1833371664 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12 |
| RS2131488754 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Glaucoma 1, open angle |
| RS2131488944 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12 |
| RS2131520977 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12 |
| RS2539041407 | Health Risk | Likely pathogenic | — |
| RS2539041764 | Health Risk | Likely pathogenic | OPTN-related disorder, OPTN-related disorder |
| RS2539056493 | Health Risk | Likely pathogenic | — |
| RS2539062305 | Health Risk | Likely pathogenic | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS2539078254 | Health Risk | Likely pathogenic | — |
| RS756957223 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Glaucoma 1, open angle |
| RS759311192 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS768117011 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS867368757 | Health Risk | Likely pathogenic | Primary open angle glaucoma, Glaucoma 1, open angle |
| RS1200521614 | Health Risk | Pathogenic | — |
| RS1206423781 | Health Risk | Pathogenic | Glaucoma 1, open angle, E |
| RS1206478143 | Health Risk | Pathogenic | — |
| RS1283443715 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS1328890259 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS1359892832 | Health Risk | Pathogenic | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS140599944 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Glaucoma 1, open angle |
| RS1564354968 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS1564365123 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Glaucoma 1 |
| RS1833451208 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12 |
| RS2539041527 | Health Risk | Pathogenic | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS2539056279 | Health Risk | Pathogenic | Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12, Glaucoma 1 |
| RS2539070896 | Health Risk | Pathogenic | Primary open angle glaucoma, Glaucoma 1, open angle |
| RS267606928 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12 |
| RS267606929 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12 |