• Gene id: 6648

Gene Summary

• Gene Symbol: SOD2   Gene   UCSC   Ensembl
• Aliases: IPO-B, IPOB, MNSOD, MVCD6, Mn-SOD
• Gene name: superoxide dismutase 2
• Alternate names: superoxide dismutase [Mn], mitochondrial, Mn superoxide dismutase, indophenoloxidase B, manganese-containing superoxide dismutase, mangano-superoxide dismutase, superoxide dismutase 2, mitochondrial,
• Gene location: 6q25.3 (159762528: 159679063)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 147460

SNPs

rs4880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.159692840A>G
NC_000006.11   g.160113872A>G
NG_008729.3   g.74690T>C
NM_001024465.3   c.47T>C
NM_001024465.2   c.47T>C
NM_001024465.1   c.47T>C
NM_001024466.3   c.47T>C
NM_001024466.2   c.47T>C
NM_001024466.1   c.47T>C
NM_001322817.2   c.-92T>C
NM_001322  

Protein Summary

• Protein general information: P04179  
  • Name: Superoxide dismutase [Mn], mitochondrial (EC 1.15.1.1)
  • Length: 222  
  • Mass: 24,750
  • Tissue specificity: Highly expressed in kidney, liver and epididymis. In the epididymis, it is mainly expressed in the proximal and distal sections of the corpus region. Weakly or not expressed in brain, lung, heart, spleen and testis. {ECO
• Sequence:

  MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAK
  GDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWL
  GFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK

• Structural information:
  • Interpro: IPR001189  IPR019833  IPR019832  IPR019831  IPR036324   IPR036314  
  • Prosite: PS00088
  • PDB: 1AP5 1AP6 1EM1 1JA8 1LUV 1LUW 1MSD 1N0J 1N0N 1PL4 1PM9 1QNM 1SZX 1VAR 1XDC 1XIL 1ZSP 1ZTE 1ZUQ 2ADP 2ADQ 2GDS 2P4K 2QKA 2QKC 3C3S 3C3T 5GXO 5T30 5VF9
  • PDBsum: 1AP5 1AP6 1EM1 1JA8 1LUV 1LUW 1MSD 1N0J 1N0N 1PL4 1PM9 1QNM 1SZX 1VAR 1XDC 1XIL 1ZSP 1ZTE 1ZUQ 2ADP 2ADQ 2GDS 2P4K 2QKA 2QKC 3C3S 3C3T 5GXO 5T30 5VF9
  • STRING: ENSP00000356022
• Other Databases: GeneCards:  SOD2  Malacards:  SOD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000302	response to reactive oxygen species	TAS	biological process
GO:0000303	response to superoxide	IMP	biological process
GO:0001315	age-dependent response to reactive oxygen species	IMP	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0003069	vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure	ISS	biological process
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	TAS	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0019430	removal of superoxide radicals	IMP	biological process
GO:0030145	manganese ion binding	TAS	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0032364	oxygen homeostasis	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IGI	biological process
GO:0051289	protein homotetramerization	IPI	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	biological process
GO:0000302	response to reactive oxygen species	TAS	biological process
GO:0000303	response to superoxide	IMP	biological process
GO:0001315	age-dependent response to reactive oxygen species	IMP	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0003069	vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure	ISS	biological process
GO:0004784	superoxide dismutase activity	IEA	molecular function
GO:0004784	superoxide dismutase activity	IEA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0006801	superoxide metabolic process	IEA	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019430	removal of superoxide radicals	IMP	biological process
GO:0030145	manganese ion binding	TAS	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0032364	oxygen homeostasis	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IGI	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051289	protein homotetramerization	IPI	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	biological process
GO:0000302	response to reactive oxygen species	TAS	biological process
GO:0000303	response to superoxide	IMP	biological process
GO:0001315	age-dependent response to reactive oxygen species	IMP	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0003069	vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure	ISS	biological process
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	IDA	molecular function
GO:0004784	superoxide dismutase activity	TAS	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0019430	removal of superoxide radicals	IMP	biological process
GO:0030145	manganese ion binding	TAS	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0032364	oxygen homeostasis	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IGI	biological process
GO:0051289	protein homotetramerization	IPI	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04068	FoxO signaling pathway
hsa04146	Peroxisome
hsa04211	Longevity regulating pathway
hsa04213	Longevity regulating pathway - multiple species
hsa05016	Huntington disease

Diseases

Associated diseases	References
Cancer	GAD: 18258609
Cancer (adenocarcinoma)	GAD: 18205184
Cancer (barrett's esophagus esophageal cancer)	GAD: 17277236
Cancer (Biliary tract neoplasms)	GAD: 18676870
Malignant mesothelioma	GAD: 11849743
Cancer (bladder)	GAD: 14729580
Cancer (brain)	GAD: 19505917
Cancer (cervical)	GAD: 17336594
Cancer (colorectal)	GAD: 11836586
Cancer (esophageal)	GAD: 19339270
Cancer (glaucoma)	GAD: 19754948
Cancer (hepatocellular)	GAD: 19731237
Cancer (leukemia)	GAD: 19863340
Cancer (lung)	GAD: 15331175
Cancer (lymphoma)	GAD: 17149600
Cancer (meningeal)	GAD: 20406964
Cancer (mouth)	GAD: 20643115
Cancer (non-Hodgkin lymphoma)	GAD: 16543247
Cancer (non-melanoma skin cancer)	GAD: 17186424
Cancer (ovarian)	GAD: 15196853
Cancer (pancreatic)	GAD: 11719088
Cancer (prostate)	GAD: 15781667
Cancer (Squamous cell)	GAD: 20137347
Cancer (stomach)	GAD: 15734485
Cancer (breast)	GAD: 15455371
Angina pectoris	GAD: 20206073
Atherosclerosis	GAD: 17299970
Carotid artery diseases	GAD: 12732398
Cardiovascular disease	GAD: 15591282
Hypertension	GAD: 16076760
Neuropathy	GAD: 15838728
Liver disease	GAD: 12447859
Diabetic nephropathy	KEGG: H01456
Diabetic neuropathy	GAD: 12815947
Choroid diseases	GAD: 19753309
Macular degeneration	GAD: 15774926
Pseudoexfoliation syndrome	GAD: 17453961
Uveitis	GAD: 19628738
Ankylosing spondylitis	GAD: 12880680
Arthritis	GAD: 12590982
Asthma	GAD: 15589819
Behcet's disease	GAD: 17296902
Bronchial hyperreactivity	GAD: 19213780
Pancreatitis	GAD: 15131792
Ulcerative colitis	GAD: 19715479
Psoriatic arthritis	GAD: 15266664
Systemic lupus erythematosus (SLE)	GAD: 18095014
Systemic lupus erythematosus (SLE)	GAD: 14611903
Diabetes	GAD: 11350569
Hypercholesterolemia	GAD: 20627099
Obesity	GAD: 19262996
Tardive dyskinesia	GAD: 12673575
Movement disorders	GAD: 18790709
Dyskinesias	GAD: 20041472
Alzheimer's disease	GAD: 16485861
Parkinson disease	GAD: 11481695
Cirrhosis	GAD: 16157826
Hearing Loss	GAD: 15345661
Bipolar disorder	GAD: 16626843
Panic disorder	GAD: 17548864
Schizophrenia	GAD: 15610954
Psychological disorders	GAD: 20478627
Chronic renal failure	GAD: 21085059
Preeclampsia	GAD: 15734083
Pregnancy complications	GAD: 20301895
Varicocele	GAD: 19151739
Age dependent ultrastructural modifications in human granulosa cells	INFBASE: 17005595
Oocyte quality	INFBASE: 19482907
Oligoasthenozoospermia	MIK: 22648520
Male factor infertility	MIK: 22206979
Asthenozoospermia	MIK: 22648520
Spermatogenesis defects	MIK: 22648520
Chronic obstructive pulmonary disease (COPD)	GAD: 20931825
Lung disease	GAD: 16467073
Pulmonary fibrosis	GAD: 15923250
Dermatitis	GAD: 15951095
Chronic pelvic pain syndrome	GAD: 16847469
Subcutaneous fibrosis	GAD: 16966185
Schizophrenia tardive dyskinesia	GAD: 17291655
Urolithiasis	GAD: 17628794
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 22206979
Oligoasthenozoospermia	MIK: 22648520
Asthenozoospermia	MIK: 22648520
Spermatogenetic defects	MIK: 22206979
Male infertility	MIK: 22648520
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22206979	Male infertility	PON1 Arg192Glu (rs662), SOD2 Val16Ala (rs4880)	Chinese	1160 (580 infertility cases, 580 controls)	Male infertility
22206979	Spermatogenetic defects, Male infertility	PON1 Arg192Glu (rs662) or SOD2 Val16Ala (rs4880)	Chinese	1160 (580 infertility cases, 580 controls)	Male infertility	GPX1 CAT PON1 NQO1  SOD2/MnSOD and SOD3
22648520	Oligoasthenozoospermic, idiopathic asthenozoospermic	Nrf2 SNPs (-617 G > T and -653 T > C)		631 (196 idiopathic asthenozoospermic patients, 140 idiopathic oligoasthenozoospermic patients, and 295 controls)	Male infertility	GSTM1 Nrf2 and SOD2
24444339	Male infertility, Female infertility			179 (110 infertile subjects (58 women and 52 men) with a history of idiopathic infertility and 69 fertile subjects (35 women and 34 men) with no history of infertility )	Male infertility	manganese superoxide dismutase (MnSOD)  myeloperoxidase (MPO) glutathione peroxidase 1 (GPx1) catalase (CAT) and endothelial nitric oxide synthase (eNOS)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray