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Gene Symbol |
SOD2 |
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Aliases |
GClnc1, IPO-B, IPOB, MNSOD, MVCD6, Mn-SOD |
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Entrez Gene ID |
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Gene Name |
Superoxide dismutase 2 |
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Chromosomal Location |
6q25.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
| Gene |
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| Transcript |
ENST00000538183, ENST00000367055, ENST00000546260, ENST00000367054, ENST00000444946, ENST00000337404, ENST00000545162, ENST00000535561, ENST00000537657, ENST00000401980, ENST00000452684, ENST00000546087 |
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| Protein |
ENSP00000446252, ENSP00000356022, ENSP00000440131, ENSP00000356021, ENSP00000404804, ENSP00000337127, ENSP00000441362, ENSP00000445015, ENSP00000439191, ENSP00000384196, ENSP00000406713, ENSP00000442920
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| Protein Information |
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Protein Name |
Superoxide dismutase [Mn], mitochondrial, 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 |
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Function |
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Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. |
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UniProt |
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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 |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000345347 |
P09429 |
P09429 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Blood Disorders |
| Anemia |
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| Cardiovascular Diseases |
| Heart Failure |
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| Aortic Aneurysm |
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| Cardiomyopathy |
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| Myocardial Diseases |
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| Myocardial Infarction |
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| Myocardial Failure |
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| Cataract and cardiomyopathy |
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| Myocardial Ischemia |
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| Atherosclerosis |
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| Hypertensive disease |
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| Aortic Diseases |
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| Vascular Diseases |
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| Acute Coronary Syndrome |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Marfan Syndrome |
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| Turner Syndrome |
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| Asphyxia Neonatorum |
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| Atonic seizures |
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| Skin Abnormalities |
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| Digestive System Diseases |
| Liver Cirrhosis |
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| Intestinal Polyposis |
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| Liver Diseases |
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| Enterocolitis |
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| Fatty Liver |
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| Esophagitis |
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| Hepatitis |
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| Esophageal Stenosis |
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| Ear Or Mastoid Diseases |
| Meniere Disease |
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| Endocrine System Diseases |
| Glomerulosclerosis |
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| Diabetes Mellitus |
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| Hyperthyroidism |
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| Farber disease |
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| PCOS |
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| Eye Diseases |
| Uveitis |
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| Immune System Diseases |
| Autoimmune Diseases |
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| Rheumatoid Arthritis |
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| Sarcoidosis |
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| Musculoskeletal Diseases |
| Osteoarthrosis Deformans |
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| Osteoporosis |
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| Kearns-Sayre syndrome |
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| Arthritis |
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| Neoplasms |
| Carcinoma |
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| Prostate cancer |
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| Colorectal Cancer |
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| Liver Cancer |
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| Mesothelioma |
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| Breast Cancer |
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| Skin Cancer |
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| Pancreatic Neoplasm |
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| Anaplastic Carcinoma |
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| Ovarian Cancer |
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| Thyroid Cancer |
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| Bladder Cancer |
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| Esophagus Neoplasm |
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| Gastric Cancer |
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| Brain Neoplasms |
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| Cancer Metastasis |
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| Stomach Cancer |
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| Adenocarcinoma |
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| Renal Cancer |
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| Mouth Neoplasms |
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| Cribriform Carcinoma |
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| Head Neoplasms |
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| Lung Cancer |
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| Nasopharyngeal Cancer |
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| Intestinal Polyposis |
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| Papilloma |
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| Colonic Neoplasms |
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| Lymphoma |
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| Multiple Myeloma |
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| Neoplasms |
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| Nervous System Diseases |
| Transient Ischemic Attack |
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| Arsenic Encephalopathy |
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| Brain Ischemia |
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| Parkinson Disease |
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| Cerebral Artery Infarction |
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| Degenerative Diseases Central Nervous System |
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| Seizures |
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| Spina Bifida |
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| Cerebral Ischemia |
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| Jacksonian Seizure |
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| Lateral Sclerosis |
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| Middle Cerebral Artery Syndrome |
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| CNS disorder |
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| Adrenoleukodystrophy |
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| Adrenomyeloneuropathy |
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| Neuropathy |
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| Brain Infarction |
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| Cerebral Thrombosis |
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| MELAS Syndrome |
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| Nutritional and Metabolic Diseases |
| Mitochondrial Diseases |
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| Methylmalonic acidemia |
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| Obesity |
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| Hypoglycemia |
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| Psychiatric/Brain disorders |
| Bipolar Disorder |
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| Mental Depression |
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| Lewy Body Disease |
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| Alzheimer Disease |
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| Senile Dementia |
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| Involutional paraphrenia |
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| Schizophrenia |
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| Psychosis |
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| Obstructive Sleep Apnea |
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| Renal Disorder |
| Diabetic Nephropathy |
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| Nephrotic Syndrome |
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| Kidney Tubular Necrosis |
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| Reproductive disorders |
| Male infertility |
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| Respiratory Tract Diseases |
| Respiratory Distress Syndrome |
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| Lung Diseases |
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| Pneumonia |
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| Skin and Connective Tissue Diseases |
| Pustulosis |
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| Psoriasis |
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| Dermatitis |
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References |
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| Galazis Nicolas, Pang Yik-Lam, Galazi Myria, Haoula Zeina, Layfield Robert, Atiomo William |
| Nottingham Medical School, University of Nottingham, Queen's Medical Centre Campus Nottingham University Hospital, Nottingham, UK. ngalazis@gmail.com |
| Gynecol Endocrinol. 2013 Jul;29(7):638-44. doi: 10.3109/09513590.2013.777416. |
Abstract
There is a need for research studies into the molecular mechanisms underpinning the link between polycystic ovary syndrome (PCOS) and endometrial cancer (EC) to facilitate screening and to encourage the development of novel strategies to prevent disease progression. The objective of this review was to identify proteomic biomarkers of EC risk in women with PCOS. All eligible published studies on proteomic biomarkers for EC identified through the literature were evaluated. Proteomic biomarkers for EC were then integrated with an updated previously published database of all proteomic biomarkers identified so far in PCOS women. Nine protein biomarkers were similarly either under or over expressed in women with EC and PCOS in various tissues. These include transgelin, pyruvate kinase M1/M2, gelsolin-like capping protein (macrophage capping protein), glutathione S-transferase P, leucine aminopeptidase (cytosol aminopeptidase), peptidyl-prolyl cis-transisomerase, cyclophilin A, complement component C4A and manganese-superoxide dismutase. If validated, these biomarkers may provide a useful framework on which the knowledge base in this area could be developed and will facilitate future mathematical modelling to enhance screening and prevention of EC in women with PCOS who have been shown to be at increased risk. |
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| Galazis Nicolas, Olaleye Olalekan, Haoula Zeina, Layfield Robert, Atiomo William |
| Division of Human Development, School of Clinical Sciences, University of Nottingham, Queen's Medical Centre Campus, Nottingham University Hospitals, Nottingham, United Kingdom. ngalazis@gmail.com |
| Fertil Steril. 2012 Dec;98(6):1590-601.e1. doi: 10.1016/j.fertnstert.2012.08.002. |
Abstract
OBJECTIVE: To review and identify possible biomarkers for ovarian cancer (OC) in women with polycystic ovary syndrome (PCOS). DESIGN: Systematic literature searches of MEDLINE, EMBASE, and Cochrane using the search terms "proteomics," "proteomic," and "ovarian cancer" or "ovarian carcinoma." Proteomic biomarkers for OC were then integrated with an updated previously published database of all proteomic biomarkers identified to date in patients with PCOS. SETTING: Academic department of obstetrics and gynecology in the United Kingdom. PATIENT(S): A total of 180 women identified in the six studies. INTERVENTION(S): Tissue samples from women with OC vs. tissue samples from women without OC. MAIN OUTCOME MEASURE(S): Proteomic biomarkers, proteomic technique used, and methodologic quality score. RESULT(S): A panel of six biomarkers was overexpressed both in women with OC and in women with PCOS. These biomarkers include calreticulin, fibrinogen-gamma, superoxide dismutase, vimentin, malate dehydrogenase, and lamin B2. CONCLUSION(S): These biomarkers could help improve our understanding of the links between PCOS and OC and could potentially be used to identify subgroups of women with PCOS at increased risk of OC. More studies are required to further evaluate the role these biomarkers play in women with PCOS and OC. |
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