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Optn Gene Detail
Summary
  • Symbol
    Optn
  • Name
    optineurin
  • Synonyms
    4930441O07Rik, TFIIIA-INTP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918898
    NCBI Gene: 71648
  • Gene Overview
    MyGene.info: OPTN
Location & Maps
more
  • Genetic Map
    Chromosome 2, 3.15 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    OPTN, optineurin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    OPTN, optineurin
    Orthology source: HomoloGene
  • Synonyms
    ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
  • Links
    NCBI Gene ID: 10133
    neXtProt AC: NX_Q96CV9

  • Chr Location
    10p13; chr10:13100075-13138291 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 11085
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: OPTN
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human OPTN associations

Human Disease Mouse Models
       Amyotrophic Lateral Sclerosis 12; ALS12   OMIM: 613435
Glaucoma, Normal Tension, Susceptibility to   OMIM: 606657
Glaucoma, Primary Open Angle; POAG   OMIM: 137760 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Gene trapped
    11
  • Targeted
    4
  • Transgenic
    1
  • Incidental Mutations
Mice hypomorphic allele exhibit background sensitive embryonic lethality with surviving mice exhibiting normal immune cell development, T and B cell activation and TNF- or LPS-mediated activation of cells of the innate immune system.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010864 VEGA Gene Model | MGI Sequence Detail 43410 C57BL/6J ±  kb
transcript OTTMUST00000025422 VEGA | MGI Sequence Detail 2614 Not Applicable  
polypeptide OTTMUSP00000011649 VEGA | MGI Sequence Detail 584 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    396 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000011652 optineurin
  • InterPro Domains
    IPR032419 NF-kappa-B essential modulator NEMO, CC2-LZ domain
    IPR021063 NF-kappa-B essential modulator NEMO, N-terminal
    IPR032939 Optineurin
Molecular
Reagents
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  • All nucleic 37
    cDNA 35
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 45
    Developmental Gene Expression 7
    Diseases 1
    Gene Ontology 7
    Phenotypes 10
  • Earliest
    J:61878 Moreland RJ, et al., Identification of a transcription factor IIIA-interacting protein. Nucleic Acids Res. 2000 May 1;28(9):1986-93
  • Latest
    J:223368 Chew TS, et al., Optineurin deficiency in mice contributes to impaired cytokine secretion and neutrophil recruitment in bacteria-driven colitis. Dis Model Mech. 2015 Aug 1;8(8):817-29

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory