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    SOD2 superoxide dismutase 2 [ Homo sapiens (human) ]

    Gene ID: 6648, updated on 28-Mar-2017
    Official Symbol
    SOD2provided by HGNC
    Official Full Name
    superoxide dismutase 2provided by HGNC
    Primary source
    HGNC:HGNC:11180
    See related
    Ensembl:ENSG00000112096 MIM:147460; Vega:OTTHUMG00000015940
    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
    IPOB; IPO-B; MNSOD; MVCD6; 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]
    Orthologs
    Location:
    6q25.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (159679064..159762529, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160100148..160114353, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 69 Neighboring gene uncharacterized LOC105378085 Neighboring gene heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 Neighboring gene RNA, U4atac small nuclear 18, pseudogene Neighboring gene WT1 associated protein Neighboring gene uncharacterized LOC100129518 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

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

    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 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

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    manganese ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    superoxide dismutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    superoxide dismutase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    age-dependent response to reactive oxygen species IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein homotetramerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of cytochrome c from mitochondria ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    removal of superoxide radicals IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to reactive oxygen species TAS
    Traceable Author Statement
    more info
     
    response to superoxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    superoxide dismutase [Mn], mitochondrial
    Names
    Mn superoxide dismutase
    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

    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_008729.3 RefSeqGene

      Range
      74202..88466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000636.3NP_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, BU164685, DA318772, X07834
      Consensus CDS
      CCDS5265.1
      UniProtKB/Swiss-Prot
      P04179
      UniProtKB/TrEMBL
      A0A0C4DFU2
      Related
      ENSP00000446252, OTTHUMP00000017530, ENST00000538183, OTTHUMT00000042921
      Conserved Domains (3) summary
      COG0605
      Location:23222
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:25106
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:113216
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    2. NM_001024465.2NP_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, BU164685, DA318772
      Consensus CDS
      CCDS5265.1
      UniProtKB/Swiss-Prot
      P04179
      UniProtKB/TrEMBL
      A0A0C4DFU2
      Related
      ENSP00000356022, OTTHUMP00000017531, ENST00000367055, OTTHUMT00000042922
      Conserved Domains (3) summary
      COG0605
      Location:23222
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:25106
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:113216
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    3. NM_001024466.2NP_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, BU164685, DA318772
      Consensus CDS
      CCDS34564.1
      UniProtKB/Swiss-Prot
      P04179
      UniProtKB/TrEMBL
      A0A0C4DFU1
      Related
      ENSP00000356021, OTTHUMP00000238884, ENST00000367054, OTTHUMT00000399942
      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_001322814.1NP_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, BU164685, DA318772
      Consensus CDS
      CCDS34564.1
      UniProtKB/Swiss-Prot
      P04179
      UniProtKB/TrEMBL
      A0A0C4DFU1
      Related
      ENSP00000337127, OTTHUMP00000238887, ENST00000337404, OTTHUMT00000399945
      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_001322815.1NP_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, BU164685, DA318772
      Consensus CDS
      CCDS83143.1
      UniProtKB/Swiss-Prot
      P04179
      UniProtKB/TrEMBL
      A0A0C4DG56
      Related
      ENSP00000404804, OTTHUMP00000238886, ENST00000444946, OTTHUMT00000399944
      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_001322816.1NP_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, BU164685, CD367203, DA041701, DA318772
      Consensus CDS
      CCDS83142.1
      UniProtKB/TrEMBL
      G5E9P6, Q96AM7, Q9UG59
      Related
      ENSP00000406713, OTTHUMP00000017532, ENST00000452684, OTTHUMT00000042923
      Conserved Domains (1) summary
      pfam00081
      Location:2576
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
    7. NM_001322817.1NP_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/Swiss-Prot
      P04179
      Related
      ENSP00000442920, OTTHUMP00000238885, ENST00000546087, OTTHUMT00000399943
      Conserved Domains (3) summary
      COG0605
      Location:1176
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:160
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:67170
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    8. NM_001322819.1NP_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)
      AA126703, AK313082, AL135914, BP289103, X07834
      Consensus CDS
      CCDS83141.1
      UniProtKB/Swiss-Prot
      P04179
      Conserved Domains (3) summary
      COG0605
      Location:1176
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:160
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:67170
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
    9. NM_001322820.1NP_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/Swiss-Prot
      P04179
      Conserved Domains (3) summary
      COG0605
      Location:1176
      SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
      pfam00081
      Location:160
      Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
      pfam02777
      Location:67170
      Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      159679064..159762529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      160362979..160445890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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