OPTN (optineurin)

2003-06-01  

Identity

HGNC
OPTN
LOCATION
10p13
LOCUSID
10133
ALIAS
ALS12,FIP2,GLC1E,HIP7,HYPL,NRP,TFIIIA-INTP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10133
MIM: 602432
HGNC: 17142
Ensembl: ENSG00000123240

Variants:

dbSNP: 10133
ClinVar: 10133
TCGA: ENSG00000123240
COSMIC: OPTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123240ENST00000263036Q96CV9
ENSG00000123240ENST00000378747Q96CV9
ENSG00000123240ENST00000378748Q96CV9
ENSG00000123240ENST00000378752Q96CV9
ENSG00000123240ENST00000378757Q96CV9
ENSG00000123240ENST00000378764Q96CV9
ENSG00000123240ENST00000424614H7C1H4
ENSG00000123240ENST00000430081X6RKL2
ENSG00000123240ENST00000482140A0A087X2G2
ENSG00000123240ENST00000486862A0A087WY28

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379042752024Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.1
382871892024Optineurin provides a mitophagy contact site for TBK1 activation.3
383503702024Roles and mechanisms of optineurin in bone metabolism.0
384114252024[Optineurin and mitochondrial dysfunction in neurodegeneration].0
388722302024Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.0
379042752024Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.1
382871892024Optineurin provides a mitophagy contact site for TBK1 activation.3
383503702024Roles and mechanisms of optineurin in bone metabolism.0
384114252024[Optineurin and mitochondrial dysfunction in neurodegeneration].0
388722302024Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.0
366312012023Regulation of transferrin receptor trafficking by optineurin and its disease-associated mutants.4
367055292023A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal cells to endoplasmic reticulum stress and tumour necrosis factor α.1
368239502023Differential optineurin expression controls TGFβ signaling and is a key determinant for metastasis of triple negative breast cancer.1
373521362023Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.1
374391132023Deciphering 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/gene-fusions/gene-explorer/deep-insight-explorer/