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    SOD2 superoxide dismutase 2 [ Homo sapiens (human) ]

    Gene ID: 6648, updated on 23-Jul-2024

    Summary

    Official Symbol
    SOD2provided by HGNC
    Official Full Name
    superoxide dismutase 2provided by HGNC
    Primary source
    HGNC:HGNC:11180
    See related
    Ensembl:ENSG00000291237 MIM:147460; AllianceGenome:HGNC:11180
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GC1; IPOB; IPO-B; MNSOD; MVCD6; GClnc1; Mn-SOD
    Summary
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 186.4), bone marrow (RPKM 85.8) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SOD2 in Genome Data Viewer
    Location:
    6q25.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159669069..159762281, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160914924..161007912, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160090101..160183313, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378085 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:160015262-160016461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160023547-160024063 Neighboring gene uncharacterized LOC124901450 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:160108349-160108599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17752 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:160115306-160115475 Neighboring gene heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 Neighboring gene RNA, U4atac small nuclear 18, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160147749-160148346 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160148347-160148944 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:160154720-160154980 Neighboring gene WT1 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160184458-160184958 Neighboring gene SOD2 overlapping transcript 1 Neighboring gene acetyl-CoA acetyltransferase 2 Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene small nucleolar RNA, H/ACA box 29 Neighboring gene t-complex 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microvascular complications of diabetes, susceptibility to, 6
    MedGen: C2675128 OMIM: 612634 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Free radical scavengers such as superoxide dismutase (SOD), dimethylthiourea (DMTU) and catalase attenuate morphine and gp160-induced human monocyte apoptosis PubMed
    Tat tat HIV-1 Tat upregulates NQO1, CAT, SOD1, SOD2, and HMOX1 (HO1) mRNA levels in SH-SY5Y cells PubMed
    tat Microarray analysis indicates HIV-1 Tat-induced upregulation of mitochondrial superoxide dismutase 2 (SOD2; Mn-SOD) in primary human brain microvascular endothelial cells PubMed
    tat Cell-permeable SOD inhibits the activation of MAP kinases including ERK, JNK and p38 and the upregulation of ICAM-1 and VCAM-1 by HIV-1 Tat PubMed
    tat Treatment of astrocytes with cell-permeable superoxide dismutase (SOD) leads to a decrease in Tat-induced ROS generation and NF-kappaB activation PubMed
    tat HIV-1 Tat inhibits Tip60 histone-acetyltransferase activity and abolishes Tip60-dependent transcriptional activity of the Mn-SOD promoter, resulting in downregulation of Mn-SOD PubMed
    tat HIV-1 Tat downregulates SOD2 expression by interacting with Sp1 and Sp3 to increase the Sp3-containing complexes on the basal SOD2 promoter PubMed
    tat The membrane transduction efficiencies and biological activities of the SOD protein are enhanced by fusing with the Tat protein transduction domain (PTD) at both termini PubMed
    tat HIV-1 Tat reduces the expression of MnSOD in several cell types PubMed
    tat HIV-1 Tat downregulates the expression of Mn-SOD, an effect that potentiates TNF-induced NF-kappa B activation and that requires the C-terminus (amino acids 72-86) of Tat PubMed
    Vif vif HIV-1 Vif upregulates the expression of superoxide dismutase 2 (SOD2, mitochondrial) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables manganese ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables oxygen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables superoxide dismutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables superoxide dismutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of oxygen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrophore differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutathione metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular oxygen homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of membrane hyperpolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of nitric oxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homotetramerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of cytochrome c from mitochondria ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in removal of superoxide radicals IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in respiratory electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to L-ascorbic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to isolation stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to magnetism IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to selenium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to silicon dioxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to superoxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in superoxide anion generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial nucleoid IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    superoxide dismutase [Mn], mitochondrial
    Names
    Mn superoxide dismutase
    epididymis secretory sperm binding protein
    gastric cancer-associated lncRNA 1
    indophenoloxidase B
    manganese-containing superoxide dismutase
    mangano-superoxide dismutase
    superoxide dismutase 2, mitochondrial
    NP_000627.2
    NP_001019636.1
    NP_001019637.1
    NP_001309743.1
    NP_001309744.1
    NP_001309745.1
    NP_001309746.1
    NP_001309748.1
    NP_001309749.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008729.4 RefSeqGene

      Range
      74040..98212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000636.4NP_000627.2  superoxide dismutase [Mn], mitochondrial isoform A precursor

      See identical proteins and their annotated locations for NP_000627.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A). Both variants 1 and 2 encode the same isoform (A).
      Source sequence(s)
      AA126703, AK313082, AL135914, DA318772, X07834
      Consensus CDS
      CCDS5265.1
      UniProtKB/Swiss-Prot
      B2R7R1, B3KUK2, B4DL20, B4E3K9, E1P5A9, P04179, P78434, Q16792, Q5TCM1, Q96EE6, Q9P2Z3
      UniProtKB/TrEMBL
      A0A384NL29, Q7Z7M4
      Related
      ENSP00000446252.1, ENST00000538183.7
      Conserved Domains (1) summary
      COG0605
      Location:23222
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
    2. NM_001024465.3NP_001019636.1  superoxide dismutase [Mn], mitochondrial isoform A precursor

      See identical proteins and their annotated locations for NP_001019636.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) splices out a region of the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (A).
      Source sequence(s)
      AA126703, AL135914, BC001980, BC012423, DA318772
      Consensus CDS
      CCDS5265.1
      UniProtKB/Swiss-Prot
      B2R7R1, B3KUK2, B4DL20, B4E3K9, E1P5A9, P04179, P78434, Q16792, Q5TCM1, Q96EE6, Q9P2Z3
      UniProtKB/TrEMBL
      A0A384NL29, Q7Z7M4
      Related
      ENSP00000356022.4, ENST00000367055.8
      Conserved Domains (1) summary
      COG0605
      Location:23222
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
    3. NM_001024466.3NP_001019637.1  superoxide dismutase [Mn], mitochondrial isoform B

      See identical proteins and their annotated locations for NP_001019637.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, and splices out a region of the 3' UTR, compared to variant 1. The encoded isoform (B) is shorter than isoform A. Both variants 3 and 4 encode the same isoform (B).
      Source sequence(s)
      AA126703, AL135914, BM724413, DA318772
      Consensus CDS
      CCDS34564.1
      UniProtKB/TrEMBL
      Q7Z7M4
      Related
      ENSP00000356021.2, ENST00000367054.6
      Conserved Domains (3) summary
      COG0605
      Location:23183
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:2583
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:75177
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    4. NM_001322814.2NP_001309743.1  superoxide dismutase [Mn], mitochondrial isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (B) that is shorter than isoform A. Both variants 3 and 4 encode the same isoform (B).
      Source sequence(s)
      AA126703, AK296809, AL135914
      Consensus CDS
      CCDS34564.1
      UniProtKB/TrEMBL
      Q7Z7M4
      Related
      ENSP00000337127.4, ENST00000337404.8
      Conserved Domains (3) summary
      COG0605
      Location:23183
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:2583
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:75177
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    5. NM_001322815.2NP_001309744.1  superoxide dismutase [Mn], mitochondrial isoform C precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (C) that is shorter than isoform A.
      Source sequence(s)
      AA126703, AK304766, AL135914
      Consensus CDS
      CCDS83143.1
      UniProtKB/Swiss-Prot
      P04179
      Related
      ENSP00000404804.2, ENST00000444946.6
      Conserved Domains (3) summary
      PLN02471
      Location:1157
      PLN02471; superoxide dismutase [Mn]
      pfam00081
      Location:25106
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:113156
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    6. NM_001322816.2NP_001309745.1  superoxide dismutase [Mn], mitochondrial isoform D

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks three 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (D) has a distinct C-terminus and is shorter than isoform A.
      Source sequence(s)
      AL050388, AV658055, BC016934, CD367203, DA041701
      Consensus CDS
      CCDS83142.1
      UniProtKB/TrEMBL
      G5E9P6, Q96AM7
      Related
      ENSP00000406713.2, ENST00000452684.2
      Conserved Domains (1) summary
      pfam00081
      Location:2576
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
    7. NM_001322817.2NP_001309746.1  superoxide dismutase [Mn], mitochondrial isoform E

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (E) is shorter at the N-terminus, compared to isoform A. Variants 7, 8 and 9 all encode the same isoform (E).
      Source sequence(s)
      AA126703, AK097395, AL135914
      Consensus CDS
      CCDS83141.1
      UniProtKB/TrEMBL
      Q7Z7M4
      Related
      ENSP00000442920.1, ENST00000546087.5
      Conserved Domains (1) summary
      COG0605
      Location:1176
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
    8. NM_001322819.2NP_001309748.1  superoxide dismutase [Mn], mitochondrial isoform E

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (E) is shorter at the N-terminus, compared to isoform A. Variants 7, 8 and 9 all encode the same isoform (E).
      Source sequence(s)
      AL135914
      Consensus CDS
      CCDS83141.1
      UniProtKB/TrEMBL
      Q7Z7M4
      Conserved Domains (1) summary
      COG0605
      Location:1176
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
    9. NM_001322820.2NP_001309749.1  superoxide dismutase [Mn], mitochondrial isoform E

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (E) is shorter at the N-terminus, compared to isoform A. Variants 7, 8 and 9 all encode the same isoform (E).
      Source sequence(s)
      AA126703, AL135914, DA094180, X07834
      Consensus CDS
      CCDS83141.1
      UniProtKB/TrEMBL
      Q7Z7M4
      Conserved Domains (1) summary
      COG0605
      Location:1176
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      159669069..159762281 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      160914924..161007912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)