SCO2 (synthesis of cytochrome C oxidase 2)

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
miRNA miRNA information provided by mirtarbase database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604272 10604 ENSG00000284194
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Gene miRNA Gene ontology Other IDs Protein 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)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alagille syndrome due to a JAG1 point mutation Likely pathogenic rs1603441682 RCV005861185
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (21 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopia 6 Likely pathogenic; Pathogenic rs759452074, rs74315510, rs74315511, rs74315512, rs749838192, rs762796240 RCV005032330
RCV000043618
RCV000043619
RCV001650831
RCV005031781
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy Likely pathogenic; Pathogenic rs749838192 RCV000208004
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (17)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE AXONAL CHARCOT-MARIE-TOOTH DISEASE DUE TO COPPER METABOLISM DEFECT — CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES, METABOLIC, INBORN — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (361)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 19353431 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 18341568
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11920479, 12918063, 16969493
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12684660, 19015148, 26031756
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15788668
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29634976
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 17688376
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10469391, 11669335
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenogenital Syndrome Adrenogenital Syndrome BEFREE 31028847
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome BEFREE 19221117
★★★★★
★☆☆☆☆
Found in Text Mining only