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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
  • Alliance
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, HGNC
  • Synonyms
    ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
  • Links
    NCBI Gene ID: 10133
    neXtProt AC: NX_Q96CV9
    UniProt: Q96CV9

  • Chr Location
    10p13; chr10:13100082-13138276 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
IDs
IDs
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
    8 phenotypes from 2 alleles in 4 genetic backgrounds
    5 phenotypes from multigenic genotypes
    16 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.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000010864 VEGA Gene Model | MGI Sequence Detail 43410 C57BL/6J ±  kb
    transcript OTTMUST00000025423 VEGA | MGI Sequence Detail 2411 Not Applicable  
    polypeptide OTTMUSP00000011650 VEGA | MGI Sequence Detail 584 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      396 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      cDNA 36
      Primer pair 2
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 7
      Phenotypes 16
    • 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:246096 Tanishima M, et al., Identification of optineurin as an interleukin-1 receptor-associated kinase 1-binding protein and its role in regulation of MyD88-dependent signaling. J Biol Chem. 2017 Oct 20;292(42):17250-17257

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory