Property Summary

NCBI Gene PubMed Count 155
Grant Count 138
R01 Count 74
Funding $17,537,181.78
PubMed Score 1511.79
PubTator Score 401.88

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (20)

Disease log2 FC p
malignant mesothelioma -2.600 0.000
astrocytic glioma -1.200 0.015
ependymoma -2.100 0.007
oligodendroglioma -1.700 0.031
psoriasis -1.100 0.000
glioblastoma -2.100 0.007
osteosarcoma -2.032 0.001
medulloblastoma -2.600 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
medulloblastoma, large-cell -3.500 0.000
primitive neuroectodermal tumor -1.100 0.001
acute quadriplegic myopathy -1.051 0.000
non-small cell lung cancer -1.050 0.000
lung cancer -3.200 0.000
colon cancer -1.500 0.012
adult high grade glioma -1.800 0.000
spina bifida -1.745 0.038
ductal carcinoma in situ -1.300 0.003
acute myeloid leukemia -1.700 0.027
ovarian cancer -1.900 0.000

Synonym

Accession Q96CV9 B3KP00 D3DRS4 D3DRS8 Q5T672 Q5T673 Q5T674 Q5T675 Q7LDL9 Q8N562 Q9UET9 Q9UEV4 Q9Y218
Symbols NRP
FIP2
HIP7
HYPL
ALS12
GLC1E
TFIIIA-INTP

Gene

PDB

5B83   2LO4   2LUE   3VTV   3VTW   5AAZ  

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (135)

PMID Text
26740678 OPTN 691_692insAG is a founder mutation in Moroccan and Ashkenazi Jews with ALS.
26503823 Nine OPTN variants were identified in Chinese sporadic ALS patients, including 5 known SNPs and four novel missense mutations: c.407C > T (p.A136V), c.1184A > G (p.K395R), c.1352T > C (p.I451T), and c.1546G > C (p.E516Q) (all heterozygous).
26497787 Familial linkage studies for primary angle-closure glaucoma have been performed and identified OPTN causative primary angle-closure glaucoma disease
26302410 A polymorphism of optineurin, M98K, associated with glaucoma, causes enhanced autophagy leading to transferrin receptor degradation and apoptotic death of retinal cells.
26266977 two receptors previously linked to xenophagy, NDP52 and optineurin, are the primary receptors for PINK1- and parkin-mediated mitophagy
26142952 Optineurin can also mediate the removal of protein aggregates through an ubiquitin-independent mechanism. This protein in addition can induce autophagy upon overexpression or mutation.
25943890 Loss-of-function variants in OPTN and TBK1 are associated with clinical and pathological frontotemporal dementia without motor neuron disease; TBK1 mutations are common cause of frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions
25923723 Data suggest OPTN is involved in upregulation of innate immunity in mitosis; mechanism involves phosphorylation/mitochondrial translocation of TBK1 (NF-kB-activating kinase) and phosphorylation/nuclear translocation of CYLD (cylindromatosis protein).
25859013 Optineurin binding to myosin VI was also decreased in tissue lysates from sporadic amyotrophic lateral sclerosis spinal cords.
25855473 Optineurin mediates its functions by interacting with various proteins and disease-causing mutations alter these interactions leading to functional defects in membrane vesicle trafficking, autophagy, signaling.
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AA Sequence

MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFE      1 - 70
ELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEK     71 - 140
DQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTA    141 - 210
LSKYRSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEG    211 - 280
STEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNSAIPSELNE    281 - 350
KQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR    351 - 420
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKE    421 - 490
QLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE    491 - 560
VLPDIDTLQIHVMDCII                                                         561 - 577
//

Publication (165)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26740678 2016 OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
26503823 2015 Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.
26497787 2015 Advances in glaucoma genetics.
26302410 2016 Defects in autophagy caused by glaucoma-associated mutations in optineurin.
26266977 2015 The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.
26142952 2016 Optineurin: The autophagy connection.
25943890 2015 Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
25923723 2015 Optineurin regulates the interferon response in a cell cycle-dependent manner.
25859013 2015 Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.
More...