OPTN optineurin
Gene ID: 10133, updated on 27-Nov-2024Gene type: protein coding
Also known as: NRP; FIP2; HIP7; HYPL; ALS12; GLC1E; TFIIIA-INTP
- See all available tests in GTR for this gene
- Go to complete Gene record for OPTN
- Go to Variation Viewer for OPTN variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis MedGen: C0002736GeneReviews: Amyotrophic Lateral Sclerosis Overview | See labs |
| Amyotrophic lateral sclerosis type 12 | See labs |
| Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. GeneReviews: Not available | |
| Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. GeneReviews: Not available | |
| Glaucoma, normal tension, susceptibility to | See labs |
| Primary open angle glaucoma | See labs |
Genomic context
- Location:
- 10p13
- Sequence:
- Chromosome: 10; NC_000010.11 (13100082..13138308)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OPTN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/OPTN genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- OPTN database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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