Seroatlas · Human Serome Atlas

OPTN

Optineurin

Also known as: FIP-2, FIP2, GLC1E, HIP7, HYPL, NRP, OPTN_HUMAN, TFIIIA-INTP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96CV9
Gene
OPTN
Ensembl
ENSG00000123240
Chromosome
10
Canonical length
577 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

577 residues, UniProt reviewed canonical sequence.

>Q96CV9|OPTN
     1  MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE NHQLKEAMKL
    61  NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL SHENEKLKEE LGKLKGKSER
   121  SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL QAEKADLLGI VSELQLKLNS SGSSEDSFVE
   181  IRMAEGEAEG SVKEIKHSPG PTRTVSTGTA LSKYRSRSAD GAKNYFEHEE LTVSQLLLCL
   241  REGNQKVERL EVALKEAKER VSDFEKKTSN RSEIETQTEG STEKENDEEK GPETVGSEVE
   301  ALNLQVTSLF KELQEAHTKL SEAELMKKRL QEKCQALERK NSAIPSELNE KQELVYTNKK
   361  LELQVESMLS EIKMEQAKTE DEKSKLTVLQ MTHNKLLQEH NNALKTIEEL TRKESEKVDR
   421  AVLKELSEKL ELAEKALASK QLQMDEMKQT IAKQEEDLET MTILRAQMEV YCSDFHAERA
   481  AREKIHEEKE QLALQLAVLL KENDAFEDGG RQSLMEMQSR HGARTSDSDQ QAYLVQRGAE
   541  DRDWRQQRNI PIHSCPKCGE VLPDIDTLQI HVMDCII

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OPTN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.54
Highest tissue expression
836 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 836 nTPM
  • tongue: 369 nTPM
  • heart muscle: 99 nTPM
  • adipose tissue: 87 nTPM
  • blood vessel: 86 nTPM
  • adrenal gland: 85 nTPM

Single-cell type

  • late spermatids: 1,619 nCPM
  • esophageal apical cells: 444 nCPM
  • late primary spermatocytes: 317 nCPM
  • enterocytes: 315 nCPM
  • early spermatids: 283 nCPM
  • myonuclei: 245 nCPM

Immune cell

  • T-reg: 110 nTPM
  • memory CD4 T-cell: 71 nTPM
  • memory CD8 T-cell: 66 nTPM
  • gdT-cell: 56 nTPM
  • NK-cell: 51 nTPM
  • basophil: 48 nTPM

Brain region

  • midbrain: 93 nTPM
  • cerebral cortex: 92 nTPM
  • pons: 91 nTPM
  • hypothalamus: 83 nTPM
  • white matter: 79 nTPM
  • medulla oblongata: 79 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OPTN.

Disease | AllUniProt

Conditions OPTN is implicated in, by any mechanism.

  • Glaucoma 1, open angle, E (GLC1E) MIM:137760
  • Glaucoma, normal pressure (NPG) MIM:606657
  • Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (ALS12) MIM:613435

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 586 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.26
gnomAD pLI
0
gnomAD missense Z
0.62
DepMap mean gene effect
0.1
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OPTN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OPTN as an antibody target. Whether an autoantibody or antibody against OPTN could matter depends on whether native OPTN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OPTN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OPTN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/OPTN. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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