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Sod2 Gene Detail
Summary
  • Symbol
    Sod2
  • Name
    superoxide dismutase 2, mitochondrial
  • Synonyms
    manganese SOD, manganese superoxide dismutase, MGC:6144, MnSOD, Sod-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98352
    NCBI Gene: 20656
  • Alliance
    gene page
  • Transcription Start Sites
    40 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:13226726-13237006 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 8.75 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    263 from dbSNP Build 142
  • Strain Annotations
    16
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98352
 protein coding gene Chr17:13225733-13258950 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023158
 protein coding gene Chr17:10720848-10731660 (+)
A/J MGP_AJ_G0023126
 protein coding gene Chr17:10521145-10534545 (+)
AKR/J MGP_AKRJ_G0023090
 protein coding gene Chr17:10390159-11255998 (+)
BALB/cJ MGP_BALBcJ_G0023126
 protein coding gene Chr17:10303191-11122439 (+)
C3H/HeJ MGP_C3HHeJ_G0022888
 protein coding gene Chr17:10602834-10611721 (+)
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0022402
 protein coding gene Chr17:10702833-11394376 (+)
CBA/J MGP_CBAJ_G0022861
 protein coding gene Chr17:11523369-11533559 (+)
DBA/2J MGP_DBA2J_G0022993
 protein coding gene Chr17:10164401-10175270 (+)
FVB/NJ MGP_FVBNJ_G0022964
 protein coding gene Chr17:10088627-10893540 (+)
LP/J MGP_LPJ_G0023065
 protein coding gene Chr17:10557091-11471167 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022983
 protein coding gene Chr17:11155698-11179011 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023595
 protein coding gene Chr17:10635648-11434413 (+)
PWK/PhJ MGP_PWKPhJ_G0022149
 protein coding gene Chr17:9853241-9860669 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021981
 protein coding gene Chr17:10056982-10516699 (+)
WSB/EiJ MGP_WSBEiJ_G0022460
 protein coding gene Chr17:10951057-10960097 (+)



Homology
more
  • Human Ortholog
    SOD2, superoxide dismutase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SOD2, superoxide dismutase 2
  • Synonyms
    GC1, GClnc1, IPO-B, IPOB, lncRNA-GC1, Mn-SOD, MNSOD, MVCD6
  • Links
    NCBI Gene ID: 6648
    neXtProt AC: NX_P04179
    UniProt: P04179

  • Chr Location
    6q25.3; chr6:159669069-159762529 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with Sod2 mouse models; 35 with human SOD2 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    159 phenotypes from 6 alleles in 14 genetic backgrounds
    24 phenotypes from multigenic genotypes
    2 images
    177 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.
Mutations affect mitochondrial function. Null homozygotes die early with cardiomyopathy, tissue lipid accumulation, neurodegeneration, motor problems and/or metabolic acidosis depending on strain background. Heterozygotes show mitochondria and apoptosis defects with age. Inducible retina-specific conditional KO results in retinal atrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    137
  • GO References
    49
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
    1558
  • Tissues
    358
  • cDNA Data
    21
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20656 NCBI Gene Model | MGI Sequence Detail 10281 C57BL/6J ±  kb
    transcript NM_013671 RefSeq | MGI Sequence Detail 3824 ZRU/MplStud  
    polypeptide P09671 UniProt | EBI | MGI Sequence Detail 222 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000015400 superoxide dismutase [Mn], mitochondrial
      (term hierarchy)
    • EC
      1.15.1.1
    • InterPro Domains
      IPR050265 Iron/Manganese Superoxide Dismutase
      IPR001189 Manganese/iron superoxide dismutase
      IPR019833 Manganese/iron superoxide dismutase, binding site
      IPR019832 Manganese/iron superoxide dismutase, C-terminal
      IPR036314 Manganese/iron superoxide dismutase, C-terminal domain superfamily
      IPR019831 Manganese/iron superoxide dismutase, N-terminal
      IPR036324 Manganese/iron superoxide dismutase, N-terminal domain superfamily
    • GlyGen
      P09671 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 3
      cDNA 24
      Primer pair 8
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14484, MGD-MRK-14486
    References
    more
    • Summaries
      All 341
      Developmental Gene Expression 35
      Diseases 3
      Gene Ontology 49
      Phenotypes 177
    • Earliest
      J:5406 Creagan R, et al., Chromosome assignments of genes in man using mouse-human somatic cell hybrids: mitochondrial superoxide dismutase (indophenol oxidase-B, tetrameric) to chromosome 6. Humangenetik. 1973 Dec 10;20(3):203-9
    • Latest
      J:349916 Papinska JA, et al., Deleting Mitochondrial Superoxide Dismutase 2 in Salivary Gland Ductal Epithelial Cells Recapitulates Non-Sjogren's Sicca Syndrome. Int J Mol Sci. 2024 May 30;25(11)
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory