Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9997
Gene name	Synthesis of cytochrome C oxidase 2
Gene symbol	SCO2
Synonyms (NCBI Gene)	CEMCOX1ECGF1GliostatinMC4DN2MYP6PD-ECGFSCO1LTPTYMPTdRPase
Chromosome	22
Chromosome location	22q13.33
Summary	Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimer

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029944	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IMP	23643385
GO:0001701	Process	In utero embryonic development	IEA
GO:0003012	Process	Muscle system process	IEA
GO:0005507	Function	Copper ion binding	IEA
GO:0005507	Function	Copper ion binding	NAS	10545952
GO:0005515	Function	Protein binding	IPI	24403053, 25959673, 28330871, 29154948, 29381136, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	10545952
GO:0005743	Component	Mitochondrial inner membrane	IDA	15229189
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0008535	Process	Respiratory chain complex IV assembly	IEA
GO:0008535	Process	Respiratory chain complex IV assembly	IEA
GO:0014823	Process	Response to activity	IEA
GO:0015035	Function	Protein-disulfide reductase activity	IDA	19336478
GO:0016020	Component	Membrane	IEA
GO:0016531	Function	Copper chaperone activity	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030016	Component	Myofibril	IDA	20864674
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IBA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	15229189
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	TAS	10545952
GO:0046872	Function	Metal ion binding	IEA
GO:0055070	Process	Copper ion homeostasis	IEA

MIM	HGNC	e!Ensembl
604272	10604	ENSG00000284194

O43819

Protein name

Protein SCO2 homolog, mitochondrial

Protein function

Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2) by facilitating the incorporation of copper into the Cu(A) site of MT-CO2/COX2 (PubMed:15229189, PubMed:17189203, PubMed:19336478

PDB

2RLI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02630	SCO1-SenC	101 → 237	SCO1/SenC	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTR
LLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFR
GQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARY
VQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDY
YGRSRSAEQISDSVRRHMAAFRSVLS

Sequence length

266

Interactions

View interactions

	KEGG		Reactome
	Central carbon metabolism in cancer		TP53 Regulates Metabolic Genes Respiratory electron transport

147

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alagille syndrome due to a JAG1 point mutation	Likely pathogenic	rs1603441682	RCV005861185
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	Pathogenic; Likely pathogenic	rs2069218741, rs1403421269, rs759452074, rs2522469440, rs1248665081, rs74315510, rs80358232, rs74315511, rs74315512, rs1467767014, rs28937868, rs121908508, rs200354211, rs749838192, rs780824645 View all (11 more)	RCV001336784 RCV004571992 RCV003235733 RCV003475398 RCV003475434 RCV000006032 RCV000006033 RCV000006035 RCV000006036 RCV000006037 RCV000006038 RCV000006039 RCV003475480 RCV002288836 RCV003110139 RCV003472600 RCV003472601 RCV003472602 RCV003472603 RCV003472604 RCV004574076 RCV004574113 RCV004573558 RCV004573559 RCV004573560 RCV000985024
Myopia 6	Likely pathogenic; Pathogenic	rs759452074, rs74315510, rs74315511, rs74315512, rs749838192, rs762796240	RCV005032330 RCV000043618 RCV000043619 RCV001650831 RCV005031781 RCV005036893
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs749838192	RCV000208004
SCO2-related disorder	Pathogenic; Likely pathogenic	rs74315511, rs2522474020	RCV004752685 RCV004731537
Seizure	Pathogenic	rs74315511	RCV000626777
Severe global developmental delay	Pathogenic	rs74315511	RCV000626777
Tip-toe gait	Pathogenic	rs74315511	RCV001610286

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Fatal Infantile Cardioencephalomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs112793292, rs375309432	RCV000380439 RCV000293110
Mitochondrial complex IV deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Uncertain significance	rs112793292, rs780314255, rs200605042, rs886057630, rs886057632, rs747642461, rs554814235, rs375309432, rs765425160, rs886057631, rs139545104, rs145052206, rs145100473, rs201909075, rs375345044, rs147624681, rs942543259, rs375383752 View all (3 more)	RCV000339909 RCV001149869 RCV000336339 RCV000275865 RCV000301806 RCV000293784 RCV000360974 RCV000387314 RCV000272600 RCV000404799 RCV000279757 RCV000263704 RCV001147380 RCV001149871 RCV001148308 RCV001147382 RCV001149866 RCV001145651 RCV001145652

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	29193756
Acidosis Lactic	Associate	19353431
Arrhythmias Cardiac	Associate	29193756
Cardioencephalomyopathy Fatal Infantile due to Cytochrome C Oxidase Deficiency	Associate	11931660, 20193760, 22515166
Cardiomyopathies	Associate	19353431, 25058219, 28330871
Cardiomyopathy Hypertrophic	Associate	23838601, 29193756
Colorectal Neoplasms	Associate	22120717, 35302710
Cytochrome c Oxidase Deficiency	Associate	11931660, 20193760, 22515166
Depressive Disorder Major	Associate	40149491
Fasciculation	Associate	19353431
Glioma	Associate	22120717
Hypoxia	Associate	22120717
Hypoxia Brain	Associate	23319048
Inflammatory Bowel Diseases	Associate	40149491
Leigh Disease	Associate	36675121
Leigh syndrome French Canadian type	Associate	29193756
Metabolic Syndrome	Associate	35302710
Mitochondrial Diseases	Associate	19353431, 23838601, 26669719, 29193756
Muscular Atrophy	Associate	19353431
Myopia	Associate	35002215
Neoplasms	Stimulate	22120717
Neoplasms	Inhibit	23319048
Neoplasms	Associate	26725848, 35302710, 39207627
Nervous System Diseases	Associate	19353431
Telomeric 22q13 Monosomy Syndrome	Associate	38002941

SCO2 (synthesis of cytochrome C oxidase 2)