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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:5025453-5068862 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 3.15 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1346 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918898
 protein coding gene Chr2:5023902-5069210 (-)
129S1/SvImJ ENSMUSG00200028179
 protein coding gene Chr2:1891893-1935268 (-)
A/J ENSMUSG00195016638
 protein coding gene Chr2:2000982-2044396 (-)
AKR/J ENSMUSG00220005277
 protein coding gene Chr2:1992481-2035888 (-)
BALB/cJ ENSMUSG00180030433
 protein coding gene Chr2:2094880-2137922 (-)
C3H/HeJ ENSMUSG00175015999
 protein coding gene Chr2:1990925-2034333 (-)
C57BL/6NJ ENSMUSG00215013320
 protein coding gene Chr2:2115579-2158988 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023149
 protein coding gene Chr2:1851962-1896668 (-)
CAST/EiJ ENSTCUG00005004777
 protein coding gene Chr2:1969136-2014391 (-)
CBA/J ENSMUSG00210026390
 protein coding gene Chr2:2031214-2074625 (-)
DBA/2J ENSMUSG00185012102
 protein coding gene Chr2:1990714-2034119 (-)
FVB/NJ ENSMUSG00205029191
 protein coding gene Chr2:1978713-2021776 (-)
JF1/MsJ ENSUMUG00000001326
 protein coding gene Chr2:1974497-2020409 (-)
LP/J ENSMUSG00230002104
 protein coding gene Chr2:3939936-3983303 (-)
NOD/ShiLtJ ENSMUSG00190005794
 protein coding gene Chr2:1992863-2036273 (-)
NZO/HlLtJ ENSMUSG00225001552
 protein coding gene Chr2:11667129-11710532 (-)
PWK/PhJ ENSLUMG00010029447
 protein coding gene Chr2:2031223-2077153 (-)
SPRET/EiJ ENSMSPG00010026107
 protein coding gene Chr2:1981390-2046343 (-)
WSB/EiJ ENSIUOG00005021540
 protein coding gene Chr2:1987403-2030405 (-)



Homology
more
  • Human Ortholog
    OPTN, optineurin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OPTN, optineurin
  • Synonyms
    ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
  • Links
    NCBI Gene ID: 10133
    UniProt: Q96CV9

  • Chr Location
    10p13; chr10:13099449-13140320 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Optn mouse models; 7 with human OPTN associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 3 alleles in 5 genetic backgrounds
    43 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. Homozygosity for the p.E50K mutation affects autophagy and apoptosis in the retina and leads to reduced visual function in aged mice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    73
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    819
  • Tissues
    147
  • cDNA Data
    38
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026672 Ensembl Gene Model | MGI Sequence Detail 43410 C57BL/6J ±  kb
    transcript ENSMUST00000027986 Ensembl | MGI Sequence Detail 2411 Not Applicable  
    polypeptide ENSMUSP00000027986 Ensembl | MGI Sequence Detail 584 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      cDNA 38
      Primer pair 3
      Other 1
      Antibodies 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 104
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 10
      Phenotypes 43
    • 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:389059 Kadam R, et al., Optineurin modulates mTORC2/AKT/STAT3 signaling to control MHC class II expression and adaptive immunity against HSV-1. Cell Rep. 2026 Apr 16;45(4):117263
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory