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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
    gene 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
    18
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 MGP_129S1SvImJ_G0025320
 protein coding gene Chr2:2113153-2162594 (-)
A/J MGP_AJ_G0025297
 protein coding gene Chr2:2002470-2051086 (-)
AKR/J MGP_AKRJ_G0025265
 protein coding gene Chr2:2044596-2092109 (-)
BALB/cJ MGP_BALBcJ_G0025293
 protein coding gene Chr2:1986584-2032531 (-)
C3H/HeJ MGP_C3HHeJ_G0025053
 protein coding gene Chr2:2035469-2086513 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025735
 protein coding gene Chr2:2129078-2179916 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023149
 protein coding gene Chr2:1851962-1896668 (-)
CAST/EiJ MGP_CASTEiJ_G0024516
 protein coding gene Chr2:2057606-2106378 (-)
CBA/J MGP_CBAJ_G0025032
 protein coding gene Chr2:2224121-2281085 (-)
DBA/2J MGP_DBA2J_G0025164
 protein coding gene Chr2:1971499-2014613 (-)
FVB/NJ MGP_FVBNJ_G0025126
 protein coding gene Chr2:1963886-2005546 (-)
LP/J MGP_LPJ_G0025250
 protein coding gene Chr2:2092608-2143140 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025158
 protein coding gene Chr2:2125877-2174462 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025793
 protein coding gene Chr2:2046302-2093469 (-)
PWK/PhJ MGP_PWKPhJ_G0024267
 protein coding gene Chr2:1951987-1998879 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024067
 protein coding gene Chr2:2030074-2088650 (-)
WSB/EiJ MGP_WSBEiJ_G0024586
 protein coding gene Chr2:2068328-2114556 (-)



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
    neXtProt AC: NX_Q96CV9
    UniProt: Q96CV9

  • Chr Location
    10p13; chr10:13099449-13138308 (+)  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
    37 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
    62
  • GO References
    9
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
    928
  • 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 ENSMUST00000114996 Ensembl | MGI Sequence Detail 2614 Not Applicable  
    polypeptide ENSMUSP00000110648 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

      Microarray probesets 3
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 9
      Phenotypes 37
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory