SOD2 superoxide dismutase 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SOD2 promotes the immunosuppressive function of mesenchymal stem cells at the expense of adipocyte differentiation.
Title: SOD2 promotes the immunosuppressive function of mesenchymal stem cells at the expense of adipocyte differentiation.
SOD2 orchestrates redox homeostasis in intervertebral discs: A novel insight into oxidative stress-mediated degeneration and therapeutic potential.
Title: SOD2 orchestrates redox homeostasis in intervertebral discs: A novel insight into oxidative stress-mediated degeneration and therapeutic potential.
Variants rs2758346, rs5746094, and rs2758331 of SOD2 gene: association study with breast cancer in a Mexican population and their analysis in silico.
Title: Variants rs2758346, rs5746094, and rs2758331 of SOD2 gene: association study with breast cancer in a Mexican population and their analysis in silico.
Methyltransferase METTL3-mediated maturation of miR-4654 facilitates high glucose-induced apoptosis and oxidative stress in lens epithelial cells via decreasing SOD2.
Title: Methyltransferase METTL3-mediated maturation of miR-4654 facilitates high glucose-induced apoptosis and oxidative stress in lens epithelial cells via decreasing SOD2.
SOD2 confers anlotinib resistance via regulation of mitochondrial damage in OSCC.
Title: SOD2 confers anlotinib resistance via regulation of mitochondrial damage in OSCC.
The impact of the association between Val16Ala-SOD2 SNP and SOD2 immunohistochemistry expression in the prognosis of patients with esophageal cancer.
Title: The impact of the association between Val16Ala-SOD2 SNP and SOD2 immunohistochemistry expression in the prognosis of patients with esophageal cancer.
Overexpression of manganese superoxide dismutase mitigates ACL injury-induced muscle atrophy, weakness and oxidative damage.
Title: Overexpression of manganese superoxide dismutase mitigates ACL injury-induced muscle atrophy, weakness and oxidative damage.
Association of a single nucleotide polymorphism in SOD2 with susceptibility for the development of diabetic nephropathy in patients with type 2 diabetes: A Saudi population study.
Title: Association of a single nucleotide polymorphism in SOD2 with susceptibility for the development of diabetic nephropathy in patients with type 2 diabetes: A Saudi population study.
Identification of the regulatory network and potential markers for type 2 diabetes mellitus related to internal exposure to metals in Chinese adults.
Title: Identification of the regulatory network and potential markers for type 2 diabetes mellitus related to internal exposure to metals in Chinese adults.
The role of SOD2 and NOS2 genes in the molecular aspect of bladder cancer pathophysiology.
Title: The role of SOD2 and NOS2 genes in the molecular aspect of bladder cancer pathophysiology.

Submit: New GeneRIF Correction See all GeneRIFs (653)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16462 (e-PCR)
- UniSTS:55316

D6S1419 (e-PCR)
- UniSTS:8761

SHGC-34268 (e-PCR)
- UniSTS:54355

D6S1335 (e-PCR)
- UniSTS:13774

STS-W78148 (e-PCR)
- UniSTS:82915

SOD2_3060 (e-PCR)
- UniSTS:462564

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 more info	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

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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

EC 1.15.1.1

NP_001019636.1

EC 1.15.1.1

NP_001019637.1

EC 1.15.1.1

NP_001309743.1

EC 1.15.1.1

NP_001309744.1

EC 1.15.1.1

NP_001309745.1

EC 1.15.1.1

NP_001309746.1

EC 1.15.1.1

NP_001309748.1

EC 1.15.1.1

NP_001309749.1

EC 1.15.1.1

NCBI Reference Sequences (RefSeq)

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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

NG_008729.4 RefSeqGene

Range

74040..98212

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000636.4 → NP_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:23 → 222

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
NM_001024465.3 → NP_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:23 → 222

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
NM_001024466.3 → NP_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:23 → 183

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]

pfam00081
Location:25 → 83

Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain

pfam02777
Location:75 → 177

Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
NM_001322814.2 → NP_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:23 → 183

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]

pfam00081
Location:25 → 83

Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain

pfam02777
Location:75 → 177

Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
NM_001322815.2 → NP_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:1 → 157

PLN02471; superoxide dismutase [Mn]

pfam00081
Location:25 → 106

Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain

pfam02777
Location:113 → 156

Sod_Fe_C; Iron/manganese superoxide dismutases, C-terminal domain
NM_001322816.2 → NP_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:25 → 76

Sod_Fe_N; Iron/manganese superoxide dismutases, alpha-hairpin domain
NM_001322817.2 → NP_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:1 → 176

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
NM_001322819.2 → NP_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:1 → 176

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]
NM_001322820.2 → NP_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:1 → 176

SodA; Superoxide dismutase [Inorganic ion transport and metabolism]