SOD3 (superoxide dismutase 3)

Gene

• Entrez ID: 6649
• Gene name: Superoxide dismutase 3
• Gene symbol: SOD3
• Synonyms: EC-SOD
• Chromosome: 4
• Chromosome location: 4p15.2
• Summary: This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799895	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006997	hsa-miR-21-5p	miRGen"	22836756
MIRT1379228	hsa-miR-1193	CLIP-seq
MIRT1379229	hsa-miR-193a-5p	CLIP-seq
MIRT1379230	hsa-miR-2392	CLIP-seq
MIRT1379231	hsa-miR-3202	CLIP-seq
MIRT1379232	hsa-miR-3664-3p	CLIP-seq
MIRT1379233	hsa-miR-4533	CLIP-seq
MIRT1379234	hsa-miR-541	CLIP-seq
MIRT1379235	hsa-miR-654-5p	CLIP-seq
MIRT2113214	hsa-miR-1293	CLIP-seq
MIRT2113215	hsa-miR-3150a-3p	CLIP-seq
MIRT2113216	hsa-miR-3175	CLIP-seq
MIRT2113217	hsa-miR-4483	CLIP-seq
MIRT2113218	hsa-miR-4728-5p	CLIP-seq
MIRT2113219	hsa-miR-491-5p	CLIP-seq
MIRT1379234	hsa-miR-541	CLIP-seq
MIRT1379235	hsa-miR-654-5p	CLIP-seq
MIRT2113220	hsa-miR-939	CLIP-seq
MIRT2113214	hsa-miR-1293	CLIP-seq
MIRT2113216	hsa-miR-3175	CLIP-seq
MIRT2336373	hsa-miR-3180	CLIP-seq
MIRT2336374	hsa-miR-3180-3p	CLIP-seq
MIRT2336375	hsa-miR-3196	CLIP-seq
MIRT1379231	hsa-miR-3202	CLIP-seq
MIRT2113217	hsa-miR-4483	CLIP-seq
MIRT2336376	hsa-miR-744	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0004784	Function	Superoxide dismutase activity	IBA	21873635
GO:0005507	Function	Copper ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15528465, 25416956, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005634	Component	Nucleus	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0008201	Function	Heparin binding	IEA
GO:0019430	Process	Removal of superoxide radicals	IBA	21873635
GO:0034599	Process	Cellular response to oxidative stress	TAS
GO:0046688	Process	Response to copper ion	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	9699963
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 185490
• HGNC: 11181
• e!Ensembl: ENSG00000109610

Protein

• UniProt ID: P08294
• Protein name: Extracellular superoxide dismutase [Cu-Zn] (EC-SOD) (EC 1.15.1.1)
• Protein function: Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen.
• PDB: 2JLP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00080	Sod_Cu	72 → 210	Copper/zinc superoxide dismutase (SODC)	Domain

• Sequence:

  MLALLCSCLLLAAGASDAWTGEDSAEPNSDSAEWIRDMYAKVTEIWQEVMQRRDDDGALH
  AACQVQPSATLDAAQPRVTGVVLFRQLAPRAKLDAFFALEGFPTEPNSSSRAIHVHQFGD
  LSQGCESTGPHYNPLAVPHPQHPGDFGNFAVRDGSLWRYRAGLAASLAGPHSIVGRAVVV
  HAGEDDLGRGGNQASVENGNAGRRLACCVVGVCGPGLWERQAREHSERKKRRRESECKAA
  

• Sequence length: 240

Pathways

Reactome:

Detoxification of Reactive Oxygen Species

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	16467073, 16399992
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	17392825
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	16081686
Hypertension	Hypertensive disease	rs13306026, rs13333226	16864745, 17023265
Myocardial infarction	Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	20304815
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	15298984

Unknown
Disease name	Disease term	dbSNP ID	References
Alveolitis	Alveolitis, Fibrosing		15298984
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	20304815
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	20304815