Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	SOD2
Approved Name	superoxide dismutase 2, mitochondrial
Location	6q25
Position	chr6:159669057-159762529, -1
External Links	HGNC: 11180 Entrez Gene: 6648 Ensembl: ENSG00000112096 UCSC: uc003qsg.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Pae, C. U., 2006	Other variant: SOD2_Ala-9Val	This preliminary data suggests that at least in the Korean population, the Ala-9Val MnSOD polymorphism is not associated with the development of mood disorders or their clinical parameters. However, more study with a larger population sample will be needed.	Negative	Comment on Study
Fullerton, J. M.,2010	SNP: rs4880, rs5746136 Haplotype: rs3792797 - rs8177435 - rs5746136 - rs4880(), rs3792797 - rs4880(), rs5746136 - rs4880(T-G)	We provide evidence that haplotypes within SOD2 are associated with increased risk for bipolar disorder and that an interaction at both the genotype and haplotype level between SOD2 and GPX3 further increases disease risk.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 64)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006749	glutathione metabolic process	biological process	IEA	5
GO:0003677	DNA binding	molecular function	IEA	83

GO terms by database search (count: 62)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045429	positive regulation of nitric oxide biosynthetic process	biological process	IEA	13
GO:0043524	negative regulation of neuron apoptotic process	biological process	IGI[17251466]	26
GO:0005743	mitochondrial inner membrane	cellular component	IEA	12
GO:0045599	negative regulation of fat cell differentiation	biological process	IEA	7
GO:0000302	response to reactive oxygen species	biological process	TAS	5
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0003069	vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure	biological process	ISS	1
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	biological process	IEA	4
GO:0042645	mitochondrial nucleoid	cellular component	IEA	2
GO:0071000	response to magnetism	biological process	IEA	1
GO:0042493	response to drug	biological process	IEA	57
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0034021	response to silicon dioxide	biological process	IEA	1
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	IMP[9393747]	21
GO:0001889	liver development	biological process	IEA	14
GO:0051289	protein homotetramerization	biological process	IPI[19265433]	3
GO:0035902	response to immobilization stress	biological process	IEA	5
GO:0032364	oxygen homeostasis	biological process	IMP[16179351]	1
GO:0008285	negative regulation of cell proliferation	biological process	IMP[16179351]	41
GO:0042554	superoxide anion generation	biological process	IEA	2
GO:0001836	release of cytochrome c from mitochondria	biological process	ISS	3
GO:0051881	regulation of mitochondrial membrane potential	biological process	IEA	3
GO:0005739	mitochondrion	cellular component	IDA[12551919]	75
GO:0014823	response to activity	biological process	IEA	11
GO:0019430	removal of superoxide radicals	biological process	IMP[16179351]	2
GO:0048666	neuron development	biological process	IEA	7
GO:0009409	response to cold	biological process	IEA	7
GO:0010269	response to selenium ion	biological process	IEA	3
GO:0042542	response to hydrogen peroxide	biological process	IEA	4
GO:0055072	iron ion homeostasis	biological process	IEA	2
GO:0035900	response to isolation stress	biological process	IEA	1
GO:0000303	response to superoxide	biological process	IMP[16179351]	1
GO:0005759	mitochondrial matrix	cellular component	TAS[10511315]	11
GO:0019825	oxygen binding	molecular function	IEA	2
GO:0030145	manganese ion binding	molecular function	IDA[19265433]; TAS[10511315]	5
GO:0006801	superoxide metabolic process	biological process	IDA[12551919]	1
GO:0048147	negative regulation of fibroblast proliferation	biological process	IEA	2
GO:0010332	response to gamma radiation	biological process	IEA	5
GO:0051602	response to electrical stimulus	biological process	IEA	11
GO:0004784	superoxide dismutase activity	molecular function	IDA[12551919]; TAS	2
GO:0009791	post-embryonic development	biological process	IEA	10
GO:0033591	response to L-ascorbic acid	biological process	IEA	1
GO:0046686	response to cadmium ion	biological process	IEA	3
GO:0042802	identical protein binding	molecular function	IPI[19822147]	44
GO:0008217	regulation of blood pressure	biological process	ISS	12
GO:0010042	response to manganese ion	biological process	IEA	2
GO:0001666	response to hypoxia	biological process	IEA	24
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	biological process	IMP[12551919]	4
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0050665	hydrogen peroxide biosynthetic process	biological process	IEA	2
GO:0010043	response to zinc ion	biological process	IEA	5
GO:0003032	detection of oxygen	biological process	IEA	1
GO:0071361	cellular response to ethanol	biological process	IEA	2
GO:0001315	age-dependent response to reactive oxygen species	biological process	IMP[14980699]	1
GO:0055093	response to hyperoxia	biological process	IEA	2
GO:0050790	regulation of catalytic activity	biological process	IEA	11
GO:0007507	heart development	biological process	IEA	20
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	biological process	IEA	5
GO:0030097	hemopoiesis	biological process	IEA	7
GO:0048678	response to axon injury	biological process	IEA	4
GO:0022904	respiratory electron transport chain	biological process	IEA	3
GO:0048773	erythrophore differentiation	biological process	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
eponfkbPathway	Erythropoietin mediated neuroprotection through NF-kB	2
longevityPathway	The IGF-1 Receptor and Longevity	6

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SOD2	KIAA1549	NO	yeast 2-hybrid	16169070
SOD2	NOL12	NO	yeast 2-hybrid	16169070
SOD2	HDHD2	NO	yeast 2-hybrid	16169070
SOD2	RAB4A	NO	in vitro;in vivo	123234
SOD2	RPS3A	NO	yeast 2-hybrid	16169070
SOD2	C7orf20	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4880	chr6:159692840 - 159692840(1)	5_prime_UTR_variant; missense_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)
rs5746136	chr6:159682052 - 159682052(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
SOD2_Ala-9Val	point mutation		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q25.3	chr6:155200000-160600000	2 (0/1/1)
6q25	chr6:148500000-160600000	2 (0/1/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 7)

Reference	ID in SZGene	Result Category
17893707	397	Negative
12127599	397	Negative
17291655	397	Negative
10882843	397	Negative
17055157	397	Negative
15610954	397	Positive
17582511	397	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
16626843	This preliminary data suggests that at least in the Korean population, the Ala-9Val MnSOD polymorphism is not associated with the development of mood disorders or their clinical parameters. However, more study with a larger population sample will be needed.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr6:159669057..159762529 View in gBrowse