SQOR (sulfide quinone oxidoreductase)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 58472
• Gene name: Sulfide quinone oxidoreductase
• Gene symbol: SQOR
• Synonyms (NCBI Gene): CGI-44, PRO1975, SQR, SQRDL
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same prote

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006790	Process	Sulfur compound metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0048038	Function	Quinone binding	IEA
GO:0070221	Process	Sulfide oxidation, using sulfide:quinone oxidoreductase	IBA
GO:0070221	Process	Sulfide oxidation, using sulfide:quinone oxidoreductase	IDA	22852582
GO:0070224	Function	Sulfide:quinone oxidoreductase activity	IBA
GO:0070224	Function	Sulfide:quinone oxidoreductase activity	IDA	22852582
GO:0070224	Function	Sulfide:quinone oxidoreductase activity	IEA
GO:0071949	Function	FAD binding	IBA
GO:0106436	Function	Glutathione-dependent sulfide quinone oxidoreductase activity	IDA	25225291
GO:0106436	Function	Glutathione-dependent sulfide quinone oxidoreductase activity	IEA

Other IDs

• MIM: 617658
• HGNC: 20390
• e!Ensembl: ENSG00000137767

Protein

• UniProt ID: Q9Y6N5
• Protein name: Sulfide:quinone oxidoreductase, mitochondrial (SQOR) (EC 1.8.5.8) (Sulfide dehydrogenase-like) (Sulfide quinone oxidoreductase)
• Protein function: Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone-10, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or c
• PDB: 6MO6 , 6MP5 , 6OI5 , 6OI6 , 6OIB , 6OIC , 6WH6 , 8DHK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07992	Pyr_redox_2	44 → 192	Pyridine nucleotide-disulphide oxidoreductase	Domain

• Sequence:

  MVPLVAVVSGPRAQLFACLLRLGTQQVGPLQLHTGASHAARNHYEVLVLGGGSGGITMAA
  RMKRKVGAENVAIVEPSERHFYQPIWTLVGAGAKQLSSSGRPTASVIPSGVEWIKARVTE
  LNPDKNCIHTDDDEKISYRYLIIALGIQLDYEKIKGLPEGFAHPKIGSNYSVKTVEKTWK
  ALQDFKEGNAIFTFPNTPVKCAGAPQKIMYLSEAYFRKTGKRSKANIIFNTSLGAIFGVK
  KYADALQEIIQERNLTVNYKKNLIEVRADKQEAVFENLDKPGETQVISYEMLHVTPPMSP
  PDVLKTSPVADAAGWVDVDKETLQHRRYPNVFGIGDCTNLPTSKTAAAVAAQSGILDRTI
  SVIMKNQTPTKKYDGYTSCPLVTGYNRVILAEFDYKAEPLETFPFDQSKERLSMYLMKAD
  LMPFLYWNMMLRGYWGGPAFLRKLFHLGMS

• Sequence length: 450

Pathways

KEGG Pathway	Reactome Pathway
Sulfur metabolism	Sulfide oxidation to sulfate
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Sulfide quinone oxidoreductase deficiency	Pathogenic	rs762256045, rs755490059	RCV001310242 RCV001310243	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (17)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	40708016	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	25918132	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	40708016	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	22067608, 27977873, 32160317	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29255261	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	33111402	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQOR-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256, 39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (10)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brain Diseases	Brain disease	Pubtator	32160317	Associate	★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	27856619, 30251690		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30905673		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30251690		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	32160317	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30905673		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30251690		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	26258864, 29855663		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26258864	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	26258864, 29855663		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ETHE1 1 shared diseaseLeigh syndrome 2 shared pathwaysSulfur metabolism, Sulfide oxidation to sulfate 1 shared evidence sourceClinGen (Leigh syndrome) Related via 2 shared pathways including Sulfur metabolism, Sulfide oxidation to sulfate — evidence mostly ClinGen. SUOX 2 shared pathwaysSulfur metabolism, Sulfide oxidation to sulfate Related via 2 shared pathways including Sulfur metabolism, Sulfide oxidation to sulfate. DLAT 1 shared diseaseLeigh syndrome 2 shared evidence sourcesDisgenet (Leigh syndrome), ClinGen (Leigh syndrome) Related via 1 shared disease including Leigh syndrome — evidence mostly Disgenet. RNASEH1 1 shared diseaseLeigh syndrome 2 shared evidence sourcesDisgenet (Leigh syndrome), ClinGen (Leigh syndrome) Related via 1 shared disease including Leigh syndrome — evidence mostly Disgenet. ECHS1 1 shared diseaseLeigh syndrome 2 shared evidence sourcesDisgenet (Leigh syndrome), ClinGen (Leigh syndrome) Related via 1 shared disease including Leigh syndrome — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ETHE1	1	["Leigh syndrome"]	2	["Sulfur metabolism","Sulfide oxidation to sulfate"]	1	["ClinGen (Leigh syndrome)"]
SUOX	0	[]	2	["Sulfur metabolism","Sulfide oxidation to sulfate"]	0	[]
DLAT	1	["Leigh syndrome"]	0	[]	2	["Disgenet (Leigh syndrome)","ClinGen (Leigh syndrome)"]
RNASEH1	1	["Leigh syndrome"]	0	[]	2	["Disgenet (Leigh syndrome)","ClinGen (Leigh syndrome)"]
ECHS1	1	["Leigh syndrome"]	0	[]	2	["Disgenet (Leigh syndrome)","ClinGen (Leigh syndrome)"]

Diseases Linked via Similar Genes

Congenital neurologic anomalies Linked via 1 of 5 related genesETHE1 Ankylosing spondylitis Linked via 1 of 5 related genesSUOX Autism Linked via 1 of 5 related genesSUOX Autoimmune disease Linked via 1 of 5 related genesSUOX Autoimmune thyroid disease Linked via 1 of 5 related genesSUOX

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Congenital neurologic anomalies	1	["ETHE1"]
Ankylosing spondylitis	1	["SUOX"]
Autism	1	["SUOX"]
Autoimmune disease	1	["SUOX"]
Autoimmune thyroid disease	1	["SUOX"]