SCO2 (synthesis of cytochrome C oxidase 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9997
Gene name Gene Name - the full gene name approved by the HGNC.
Synthesis of cytochrome C oxidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCO2
Synonyms (NCBI Gene) Gene synonyms aliases
CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, TP, TYMP, TdRPase
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT029944 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604272 10604 ENSG00000284194
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Central carbon metabolism in cancer   TP53 Regulates Metabolic Genes
Respiratory electron transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardioencephalomyopathy Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 rs74315512, rs1467767014, rs28937868, rs121908508, rs749838192, rs1603441682, rs74315510, rs80358232, rs74315511 N/A
Cardiomyopathy Primary dilated cardiomyopathy rs749838192 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Myopia myopia 6 N/A N/A GenCC
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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