SCO2
entrez
9997
canonical
uniprot
O43819
canonical
ensembl
ENSG00000284194
resolver
ensp
ENSP00000252785
resolver
ensp
ENSP00000379046
resolver
ensp
ENSP00000444242
resolver
ensp
ENSP00000444433
resolver
ensp
ENSP00000532221
resolver
ensp
ENSP00000532222
resolver
ensp
ENSP00000532223
resolver
ensp
ENSP00000532224
resolver
ensp
ENSP00000532225
resolver
ensp
ENSP00000532226
resolver
ensp
ENSP00000532227
resolver
ensp
ENSP00000532228
resolver
ensp
ENSP00000598079
resolver
enst
ENST00000252785
resolver
enst
ENST00000395693
resolver
enst
ENST00000535425
resolver
enst
ENST00000543927
resolver
enst
ENST00000862162
resolver
enst
ENST00000862163
resolver
enst
ENST00000862164
resolver
enst
ENST00000862165
resolver
enst
ENST00000862166
resolver
enst
ENST00000862167
resolver
enst
ENST00000862168
resolver
enst
ENST00000862169
resolver
enst
ENST00000928020
resolver
genesymbol
SCO2
resolver
hgnc
HGNC:10604
resolver
uniprot
Q3T1B5
resolver
uniprot
Q9UK87
resolver
uniprot_entry
SCO2_HUMAN
resolver
uniprot_sec
Q3T1B5
resolver
uniprot_sec
Q9UK87
resolver
amino_acid_sequence
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2) [MIM:604377]: An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure. {ECO:0000269|PubMed:10545952, ECO:0000269|PubMed:10749987, ECO:0000269|PubMed:11673586, ECO:0000269|PubMed:14994243, ECO:0000269|PubMed:17189203, ECO:0000269|PubMed:19336478, ECO:0000269|PubMed:19353847, ECO:0000269|PubMed:25959673, ECO:0000269|PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopia 6 (MYP6) [MIM:608908]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269|PubMed:23643385, ECO:0000269|PubMed:25525168, ECO:0000269|PubMed:25959673}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2); together with SCO1, facilitates the incorporation of copper into the Cu(A) site of MT-CO2/COX2 (PubMed:15229189, PubMed:17189203, PubMed:19336478, PubMed:35750769). Could also act as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478). {ECO:0000269|PubMed:15229189, ECO:0000269|PubMed:17189203, ECO:0000269|PubMed:19336478, ECO:0000269|PubMed:35750769}.
uniprot
proteins
mass_dalton
29810
uniprot
proteins
protein_family
SCO1/2 family
uniprot
proteins
pubmed
10545952
uniprot
proteins
pubmed
10749987
uniprot
proteins
pubmed
11673586
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
14994243
uniprot
proteins
pubmed
15229189
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17189203
uniprot
proteins
pubmed
17850752
uniprot
proteins
pubmed
19336478
uniprot
proteins
pubmed
19353847
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23643385
uniprot
proteins
pubmed
24403053
uniprot
proteins
pubmed
25525168
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25959673
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
28330871
uniprot
proteins
pubmed
29154948
uniprot
proteins
pubmed
29381136
uniprot
proteins
pubmed
35750769
uniprot
proteins
sequence_length
266
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15229189, ECO:0000269|PubMed:35750769}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 61..78; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins