full name
optineurin

synonyms
ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP, OPTN, ENSG00000123240

HGNC
HGNC:17142

Entrez Gene
Gene:10133

ENSEMBL
ENSG00000123240

location
chr: 10
start: 13141425
stop: 13180291
strand: +

OMIM
OMIM:602432: OPTN
OMIM:613435: Amyotrophic lateral sclerosis 12
OMIM:137760: Glaucoma 1, open angle, E
OMIM:606657: {Glaucoma, normal tension, susceptibility to}

transcripts
ENST00000378748.3
ENST00000378747.3
ENST00000378757.2

pathways
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic [NCBI:1269763] [REACTOME:R-HSA-69278]
G2/M Transition [NCBI:1269799] [REACTOME:R-HSA-69275]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Mitophagy - animal [NCBI:1496831] [KEGG:hsa04137] [PUBMED:26611876] [PUBMED:27443527] [PUBMED:25995186] [PUBMED:25611507] [PUBMED:27021519] [PUBMED:25999423] [PUBMED:27701735] [PUBMED:26882551]
Mitotic G2-G2/M phases [NCBI:1269797] [REACTOME:R-HSA-453274]
Regulation of PLK1 Activity at G2/M Transition [NCBI:1269803] [REACTOME:R-HSA-2565942] [PUBMED:12207013] [PUBMED:18615013] [PUBMED:13678582] [PUBMED:18378770] [PUBMED:18566290] [PUBMED:18477460] [PUBMED:22365832]
TBC/RABGAPs [NCBI:1470925] [REACTOME:R-HSA-8854214] [PUBMED:16855591] [PUBMED:22251903]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]