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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
q25.3
Chromosome location (bp)
159669069 - 159762529
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Manganese, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from 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 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000303[response to superoxide] GO:0001836[release of cytochrome c from mitochondria] GO:0003069[acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure] GO:0004784[superoxide dismutase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006801[superoxide metabolic process] GO:0008217[regulation of blood pressure] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0030145[manganese ion binding] GO:0030335[positive regulation of cell migration] GO:0032364[oxygen homeostasis] GO:0034599[cellular response to oxidative stress] GO:0042802[identical protein binding] GO:0043524[negative regulation of neuron apoptotic process] GO:0046872[metal ion binding] GO:0051289[protein homotetramerization] GO:0070062[extracellular exosome] GO:0072593[reactive oxygen species metabolic process] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461[positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905932[positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching]
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000303[response to superoxide] GO:0001836[release of cytochrome c from mitochondria] GO:0003069[acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure] GO:0004784[superoxide dismutase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006801[superoxide metabolic process] GO:0008217[regulation of blood pressure] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0030145[manganese ion binding] GO:0030335[positive regulation of cell migration] GO:0032364[oxygen homeostasis] GO:0034599[cellular response to oxidative stress] GO:0042802[identical protein binding] GO:0043524[negative regulation of neuron apoptotic process] GO:0046872[metal ion binding] GO:0051289[protein homotetramerization] GO:0070062[extracellular exosome] GO:0072593[reactive oxygen species metabolic process] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461[positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905932[positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching]
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000303[response to superoxide] GO:0001836[release of cytochrome c from mitochondria] GO:0003069[acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure] GO:0004784[superoxide dismutase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006801[superoxide metabolic process] GO:0008217[regulation of blood pressure] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0030145[manganese ion binding] GO:0030335[positive regulation of cell migration] GO:0032364[oxygen homeostasis] GO:0034599[cellular response to oxidative stress] GO:0042802[identical protein binding] GO:0043524[negative regulation of neuron apoptotic process] GO:0046872[metal ion binding] GO:0051289[protein homotetramerization] GO:0070062[extracellular exosome] GO:0072593[reactive oxygen species metabolic process] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461[positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905932[positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000303[response to superoxide] GO:0001836[release of cytochrome c from mitochondria] GO:0003069[acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure] GO:0004784[superoxide dismutase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006801[superoxide metabolic process] GO:0008217[regulation of blood pressure] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0030145[manganese ion binding] GO:0030335[positive regulation of cell migration] GO:0032364[oxygen homeostasis] GO:0034599[cellular response to oxidative stress] GO:0042802[identical protein binding] GO:0043524[negative regulation of neuron apoptotic process] GO:0046872[metal ion binding] GO:0051289[protein homotetramerization] GO:0070062[extracellular exosome] GO:0072593[reactive oxygen species metabolic process] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461[positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905932[positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000302[response to reactive oxygen species] GO:0000303[response to superoxide] GO:0001666[response to hypoxia] GO:0001836[release of cytochrome c from mitochondria] GO:0001889[liver development] GO:0003032[detection of oxygen] GO:0003069[acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure] GO:0003677[DNA binding] GO:0004784[superoxide dismutase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006749[glutathione metabolic process] GO:0006801[superoxide metabolic process] GO:0006979[response to oxidative stress] GO:0007005[mitochondrion organization] GO:0007507[heart development] GO:0007568[aging] GO:0007626[locomotory behavior] GO:0008217[regulation of blood pressure] GO:0008285[negative regulation of cell population proliferation] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0008631[intrinsic apoptotic signaling pathway in response to oxidative stress] GO:0008637[apoptotic mitochondrial changes] GO:0009314[response to radiation] GO:0009409[response to cold] GO:0009410[response to xenobiotic stimulus] GO:0009791[post-embryonic development] GO:0010042[response to manganese ion] GO:0010043[response to zinc ion] GO:0010269[response to selenium ion] GO:0010332[response to gamma radiation] GO:0010729[positive regulation of hydrogen peroxide biosynthetic process] GO:0014823[response to activity] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0019825[oxygen binding] GO:0019899[enzyme binding] GO:0022904[respiratory electron transport chain] GO:0030097[hemopoiesis] GO:0030145[manganese ion binding] GO:0030335[positive regulation of cell migration] GO:0031667[response to nutrient levels] GO:0032364[oxygen homeostasis] GO:0032496[response to lipopolysaccharide] GO:0033591[response to L-ascorbic acid] GO:0034021[response to silicon dioxide] GO:0034599[cellular response to oxidative stress] GO:0035900[response to isolation stress] GO:0035902[response to immobilization stress] GO:0042311[vasodilation] GO:0042542[response to hydrogen peroxide] GO:0042554[superoxide anion generation] GO:0042645[mitochondrial nucleoid] GO:0042743[hydrogen peroxide metabolic process] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0046686[response to cadmium ion] GO:0046872[metal ion binding] GO:0048147[negative regulation of fibroblast proliferation] GO:0048666[neuron development] GO:0048678[response to axon injury] GO:0048773[erythrophore differentiation] GO:0050665[hydrogen peroxide biosynthetic process] GO:0050790[regulation of catalytic activity] GO:0051289[protein homotetramerization] GO:0051602[response to electrical stimulus] GO:0051881[regulation of mitochondrial membrane potential] GO:0055072[iron ion homeostasis] GO:0055093[response to hyperoxia] GO:0070062[extracellular exosome] GO:0071000[response to magnetism] GO:0071361[cellular response to ethanol] GO:0072593[reactive oxygen species metabolic process] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1902631[negative regulation of membrane hyperpolarization] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461[positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905932[positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000303[response to superoxide] GO:0001836[release of cytochrome c from mitochondria] GO:0003069[acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure] GO:0004784[superoxide dismutase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006801[superoxide metabolic process] GO:0008217[regulation of blood pressure] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0030145[manganese ion binding] GO:0030335[positive regulation of cell migration] GO:0032364[oxygen homeostasis] GO:0034599[cellular response to oxidative stress] GO:0042802[identical protein binding] GO:0043524[negative regulation of neuron apoptotic process] GO:0046872[metal ion binding] GO:0051289[protein homotetramerization] GO:0070062[extracellular exosome] GO:0072593[reactive oxygen species metabolic process] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461[positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905932[positive regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching]