This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomy... See more...

Aliases for SOD2 Gene

Aliases for SOD2 Gene

  • Superoxide Dismutase 2 2 3 5
  • Superoxide Dismutase [Mn], Mitochondrial 3 4
  • Superoxide Dismutase 2, Mitochondrial 2 3
  • EC 1.15.1.1 4 50
  • GClnc1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Manganese-Containing Superoxide Dismutase 3
  • Gastric Cancer–Associated LncRNA 1 2
  • Gastric Cancer-Associated LncRNA 1 3
  • Mangano-Superoxide Dismutase 3
  • Mn Superoxide Dismutase 3
  • Indophenoloxidase B 3
  • Mn-SOD 3
  • IPO-B 3
  • MNSOD 3
  • MVCD6 3
  • IPOB 3
  • SOD2 5

External Ids for SOD2 Gene

Previous GeneCards Identifiers for SOD2 Gene

  • GC06M159539
  • GC06M159973
  • GC06M160009
  • GC06M160012
  • GC06M160070
  • GC06M160020
  • GC06M160102
  • GC06M157570

Summaries for SOD2 Gene

Entrez Gene Summary for SOD2 Gene

  • This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]

GeneCards Summary for SOD2 Gene

SOD2 (Superoxide Dismutase 2) is a Protein Coding gene. Diseases associated with SOD2 include Microvascular Complications Of Diabetes 6 and Gastric Cancer. Among its related pathways are Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2 and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and oxygen binding.

UniProtKB/Swiss-Prot Summary for SOD2 Gene

  • Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.

Gene Wiki entry for SOD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOD2 Gene

Genomics for SOD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SOD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J159690 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 262.5 +69.1 69130 5.8 BCLAF1 SP1 ZNF654 MYC IKZF1 ZNF600 SIX5 SSRP1 JUND ZMYM3 SOD2 lnc-WTAP-4 lnc-TCP1-5 MRPL18 WTAP PNLDC1 ACAT2 SNORA29 TCP1 SNORA20
GH06J159725 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.5 +34.4 34443 5.8 BCLAF1 SP1 ZNF207 IKZF1 MYC NCOR1 ZNF600 SSRP1 JUND ZNF580 WTAP SOD2 HSALNG0054777 lnc-TCP1-2 MRPL18 PNLDC1 ACAT2 SNORA29 TCP1 SNORA20
GH06J159759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.8 826 4.2 SP1 ZNF207 ZNF600 IKZF1 MYC SSRP1 ZNF592 KLF9 POLR2A CEBPA ACAT2 SOD2 SOD2-OT1 MRPL18 WTAP CHP1P2 PNLDC1 HSALNG0054779
GH06J159680 Promoter/Enhancer 0.8 EPDnew ENCODE dbSUPER 250.2 +81.2 81153 0.8 RBFOX2 SOD2 MRPL18 PNLDC1 SNORA29 TCP1 ENSG00000237927 HSALNG0054766 lnc-TCP1-5 WTAP FNDC1
GH06J159688 Promoter/Enhancer 0.5 EPDnew dbSUPER 262.4 +74.3 74321 0.1 SOD2 WTAP ACAT2 SNORA29 MRPL18 TCP1 SNORA20 lnc-TCP1-5 HSALNG0054766 FNDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOD2

Top Transcription factor binding sites by QIAGEN in the SOD2 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • ATF-2
  • c-Jun

Genomic Locations for SOD2 Gene

Latest Assembly
chr6:159,669,069-159,762,529
(GRCh38/hg38)
Size:
93,461 bases
Orientation:
Minus strand

Previous Assembly
chr6:160,090,101-160,183,313
(GRCh37/hg19 by Entrez Gene)
Size:
93,213 bases
Orientation:
Minus strand

chr6:160,090,089-160,183,561
(GRCh37/hg19 by Ensembl)
Size:
93,473 bases
Orientation:
Minus strand

Genomic View for SOD2 Gene

Genes around SOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOD2 Gene

Proteins for SOD2 Gene

  • Protein details for SOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04179-SODM_HUMAN
    Recommended name:
    Superoxide dismutase [Mn], mitochondrial
    Protein Accession:
    P04179
    Secondary Accessions:
    • B2R7R1
    • B3KUK2
    • B4DL20
    • B4E3K9
    • E1P5A9
    • P78434
    • Q16792
    • Q5TCM1
    • Q96EE6
    • Q9P2Z3

    Protein attributes for SOD2 Gene

    Size:
    222 amino acids
    Molecular mass:
    24750 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for SOD2 Gene

    Alternative splice isoforms for SOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOD2 Gene

Selected DME Specific Peptides for SOD2 Gene

P04179:
  • LPDLPYDY
  • WEHAYYL
  • IKRDFGS
  • EEKYQEAL
  • GGGHINH
  • EALAKGDVT
  • DYGALEP
  • KHHAAYV
  • KFKEKLTA
  • FGSFDKF
  • ALQPALKF
  • YVNNLNVTEEKY
  • KHSLPDL
  • NQDPLQGTTGL
  • KGDVTAQ
  • KNVRPDYLKAIW
  • YKNVRPDY
  • LHHSKHHA
  • DVWEHAYY
  • LSPNGGG
  • GSGWGWL

Post-translational modifications for SOD2 Gene

  • Nitrated under oxidative stress. Nitration coupled with oxidation inhibits the catalytic activity.
  • Acetylation at Lys-122 decreases enzymatic activity. Deacetylated by SIRT3 upon exposure to ionizing radiations or after long fasting (By similarity).
  • Polyubiquitinated; leading to proteasomal degradation. Deubiquitinated by USP36 which increases protein stability.
  • Ubiquitination at Lys130
  • Modification sites at PhosphoSitePlus

Antibodies for research

Domains & Families for SOD2 Gene

Gene Families for SOD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets

Protein Domains for SOD2 Gene

InterPro:
Blocks:
  • Manganese and iron superoxide dismutase

Suggested Antigen Peptide Sequences for SOD2 Gene

GenScript: Design optimal peptide antigens:
  • Superoxide dismutase (B3KUK2_HUMAN)
  • Superoxide dismutase (B4DL20_HUMAN)
  • Superoxide dismutase (B4E3K9_HUMAN)
  • Superoxide dismutase (Q4ZJI1_HUMAN)
  • Superoxide dismutase 2, mitochondrial (Q5TCM0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04179

UniProtKB/Swiss-Prot:

SODM_HUMAN :
  • Belongs to the iron/manganese superoxide dismutase family.
Family:
  • Belongs to the iron/manganese superoxide dismutase family.
genes like me logo Genes that share domains with SOD2: view

Function for SOD2 Gene

Molecular function for SOD2 Gene

UniProtKB/Swiss-Prot Function:
Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + 2 superoxide = H2O2 + O2; Xref=Rhea:RHEA:20696, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:18421; EC=1.15.1.1;.
UniProtKB/Swiss-Prot Induction:
Expression is regulated by KRIT1.
GENATLAS Biochemistry:
manganese superoxide dismutase 2,mitochondrial,catabolic pathway of activated oxygen species,free radical detoxification,susceptibility factor for non familial idiopathy dilated cardiomyopathy in Japanese

Enzyme Numbers (IUBMB) for SOD2 Gene

Phenotypes From GWAS Catalog for SOD2 Gene

Gene Ontology (GO) - Molecular Function for SOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004784 superoxide dismutase activity IEA,IDA 12551919
GO:0005515 protein binding IPI 32296183
GO:0016491 oxidoreductase activity IEA --
GO:0019825 oxygen binding IEA --
genes like me logo Genes that share ontologies with SOD2: view
genes like me logo Genes that share phenotypes with SOD2: view

Animal Models for SOD2 Gene

MGI Knock Outs for SOD2:
  • Sod2 Sod2<tm1Cje>
  • Sod2 Sod2<tm1Leb>
  • Sod2 Sod2<tm1.1Kskk>
  • Sod2 Sod2<tm1(tetO-Sod2)Evbo>
  • Sod2 Sod2<tm1(rtTA*M2,tetO)Jsg>

Animal Models for research

miRNA for SOD2 Gene

miRTarBase miRNAs that target SOD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOD2

Clone products for research

  • Addgene plasmids for SOD2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOD2 Gene

Localization for SOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOD2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOD2 gene
Compartment Confidence
mitochondrion 5
extracellular 4
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA 12551919
GO:0005759 mitochondrial matrix IEA,TAS 10511315
GO:0042645 mitochondrial nucleoid IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with SOD2: view

Pathways & Interactions for SOD2 Gene

genes like me logo Genes that share pathways with SOD2: view

Pathways by source for SOD2 Gene

1 GeneGo (Thomson Reuters) pathway for SOD2 Gene
  • Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2
1 Qiagen pathway for SOD2 Gene
  • PEDF Induced Signaling
1 Cell Signaling Technology pathway for SOD2 Gene

SIGNOR curated interactions for SOD2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000303 response to superoxide IMP 16179351
GO:0001315 age-dependent response to reactive oxygen species IMP 14980699
GO:0001666 response to hypoxia IEA --
GO:0001836 release of cytochrome c from mitochondria ISS --
GO:0003069 acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure ISS --
genes like me logo Genes that share ontologies with SOD2: view

Drugs & Compounds for SOD2 Gene

(88) Drugs for SOD2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3989
Copper Approved, Investigational Pharma 276
Oxygen Approved, Vet_approved Pharma 0
Zinc Approved, Investigational Pharma 1706

(68) Additional Compounds for SOD2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
superoxide
  • (O2)(.-)
  • Dioxide(1-)
  • Hyperoxid
  • Hyperoxide
  • O2(.-)
11062-77-4
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with SOD2: view

Transcripts for SOD2 Gene

mRNA/cDNA for SOD2 Gene

9 REFSEQ mRNAs :
38 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOD2

Clone products for research

  • Addgene plasmids for SOD2

Alternative Splicing Database (ASD) splice patterns (SP) for SOD2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9
SP1: - - - - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - -
SP5: - -
SP6: -
SP7: - -
SP8:

Relevant External Links for SOD2 Gene

GeneLoc Exon Structure for
SOD2

Expression for SOD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOD2 Gene

mRNA differential expression in normal tissues according to GTEx for SOD2 Gene

This gene is overexpressed in Muscle - Skeletal (x16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SOD2 Gene



Protein tissue co-expression partners for SOD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOD2

SOURCE GeneReport for Unigene cluster for SOD2 Gene:

Hs.487046

Evidence on tissue expression from TISSUES for SOD2 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Liver(4.9)
  • Heart(4.8)
  • Intestine(4.7)
  • Muscle(4.2)
  • Blood(4.1)
  • Kidney(3.9)
  • Bone marrow(3.4)
  • Spleen(3.3)
  • Stomach(3.3)
  • Pancreas(3.2)
  • Adrenal gland(3)
  • Skin(2.9)
  • Lymph node(2.8)
  • Bone(2.6)
  • Eye(2.6)
  • Thyroid gland(2.5)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with SOD2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SOD2 Gene

Orthologs for SOD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SOD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SOD2 29 30
  • 99.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SOD2 29 30
  • 88.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SOD2 29 30
  • 88.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SOD2 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SOD2 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sod2 29 16 30
  • 86.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sod2 29
  • 86.04 (n)
Chicken
(Gallus gallus)
Aves SOD2 29 30
  • 79.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SOD2 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sod2 29
  • 72.82 (n)
Str.15249 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.23883 29
Zebrafish
(Danio rerio)
Actinopterygii sod2 29 30
  • 72.58 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13830 29
African malaria mosquito
(Anopheles gambiae)
Insecta MNSOD1 29
  • 63.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Sod2 29 30 31
  • 62.87 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea sod-2 29 30 31
  • 61.84 (n)
OneToMany
sod-3 30 31
  • 61 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR160W 29
  • 55.61 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03609g 29
  • 55.4 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SOD2 29 30 32 32
  • 55.07 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MSD1 29
  • 60.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7748 29
Rice
(Oryza sativa)
Liliopsida Os05g0323900 29
  • 62.48 (n)
Os.4610 29
Corn
(Zea mays)
Liliopsida Zm.1987 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2788 30
  • 71 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU09560 29
  • 57.01 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1486.01 29
  • 56.54 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2423 29
Species where no ortholog for SOD2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SOD2 Gene

ENSEMBL:
Gene Tree for SOD2 (if available)
TreeFam:
Gene Tree for SOD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOD2: view image
Alliance of Genome Resources:
Additional Orthologs for SOD2

Paralogs for SOD2 Gene

(1) SIMAP similar genes for SOD2 Gene using alignment to 14 proteins:

  • SODM_HUMAN
  • F5GXZ9_HUMAN
  • F5GYZ5_HUMAN
  • F5H3C5_HUMAN
  • F5H4R2_HUMAN
  • G5E9P6_HUMAN
  • G8JLJ2_HUMAN
  • Q4ZJI1_HUMAN
  • Q6LE88_HUMAN
  • Q71UR9_HUMAN
  • Q7Z7M4_HUMAN
  • Q7Z7M5_HUMAN
  • Q7Z7M6_HUMAN
  • Q7Z7M7_HUMAN

Pseudogenes.org Pseudogenes for SOD2 Gene

genes like me logo Genes that share paralogs with SOD2: view

No data available for Paralogs for SOD2 Gene

Variants for SOD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOD2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
981493 Uncertain Significance: not provided 159,682,620(-) C/A
NM_000636.4(SOD2):c.542G>T (p.Gly181Val)
MISSENSE
rs200264201 Benign: not provided 159,692,671(-) C/T
NM_000636.4(SOD2):c.216G>A (p.Ala72=)
SYNONYMOUS
rs4880 Drug Response: SUPEROXIDE DISMUTASE 2 POLYMORPHISM; Microvascular complications of diabetes 6; cyclophosphamide response - Efficacy 159,692,840(-) A/Gp.Val16Ala
NM_000636.4(SOD2):c.47T>C (p.Val16Ala)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs557996027 Benign: not provided 159,682,583(-) A/G
NM_000636.4(SOD2):c.579T>C (p.Tyr193=)
SYNONYMOUS
rs1141718 -- p.Ile82Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SOD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SOD2 Gene

Variant ID Type Subtype PubMed ID
esv2759483 CNV gain 17122850
esv33081 CNV gain 17666407

Variation tolerance for SOD2 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.35; 85.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOD2 Gene

Human Gene Mutation Database (HGMD)
SOD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOD2
Leiden Open Variation Database (LOVD)
SOD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOD2 Gene

Disorders for SOD2 Gene

MalaCards: The human disease database

(79) MalaCards diseases for SOD2 Gene - From: LNC, OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
microvascular complications of diabetes 6
  • microvascular complications of diabetes, susceptibility to, 6
gastric cancer
  • gastric cancer, somatic
ischemia
  • acute coronary syndrome
extrinsic allergic alveolitis
  • alveolitis
aging
- elite association - COSMIC cancer census association via MalaCards
Search SOD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SODM_HUMAN
  • Microvascular complications of diabetes 6 (MVCD6) [MIM:612634]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. {ECO:0000269 PubMed:12624725, ECO:0000269 PubMed:18989629}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for SOD2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SOD2: view

No data available for Genatlas for SOD2 Gene

Publications for SOD2 Gene

  1. The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients. (PMID: 12624725) Nomiyama T … Kawamori R (Journal of human genetics 2003) 3 4 22 40 72
  2. A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy. (PMID: 17192491) Möllsten A … Dahlquist G (Diabetes 2007) 3 22 40 72
  3. Genotype-activity relationship for Mn-superoxide dismutase, glutathione peroxidase 1 and catalase in humans. (PMID: 16538174) Bastaki M … Holland N (Pharmacogenetics and genomics 2006) 3 22 40 72
  4. The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis. (PMID: 15591282) Valenti L … Fargion S (Journal of medical genetics 2004) 3 22 40 72
  5. Missense polymorphisms in three oxidative-stress enzymes (GSTP1, SOD2, and GPX1) and dyskinesias in Russian psychiatric inpatients from Siberia. (PMID: 20041472) Al Hadithy AF … Loonen AJ (Human psychopharmacology 2010) 3 22 40

Products for SOD2 Gene