SCO2 | ENSG00000284194 | NCBI 9997

Details for: SCO2

Gene ID: 9997

Symbol: SCO2

Ensembl ID: ENSG00000284194

Description: synthesis of cytochrome C oxidase 2

Associated with

Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to chemical stress
(R-HSA-9711123)
Cytoprotection by hmox1
(R-HSA-9707564)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Metabolism
(R-HSA-1430728)
Respiratory electron transport
(R-HSA-611105)
Respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
(R-HSA-163200)
Rna polymerase ii transcription
(R-HSA-73857)
The citric acid (tca) cycle and respiratory electron transport
(R-HSA-1428517)
Tp53 regulates metabolic genes
(R-HSA-5628897)
Transcriptional regulation by tp53
(R-HSA-3700989)
Copper chaperone activity
(GO:0016531)
Copper ion binding
(GO:0005507)
Eye development
(GO:0001654)
Intracellular copper ion homeostasis
(GO:0006878)
In utero embryonic development
(GO:0001701)
Mitochondrial cytochrome c oxidase assembly
(GO:0033617)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrial matrix
(GO:0005759)
Mitochondrion
(GO:0005739)
Muscle system process
(GO:0003012)
Myofibril
(GO:0030016)
Protein-disulfide reductase activity
(GO:0015035)
Protein binding
(GO:0005515)
Respiratory electron transport chain
(GO:0022904)
Response to activity
(GO:0014823)

Other Information

Proteins

Protein SCO2 homolog, mitochondrial

Genular Protein ID: 1194787165

Symbol: SCO2_HUMAN

Name: Protein SCO2 homolog, mitochondrial

UniProtKB Accession Codes:

O43819 Q3T1B5 Q9UK87

Database IDs:

Citations:

PubMed ID: 10545952

Title: Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

PubMed ID: 10545952

DOI: 10.1038/15513

PubMed ID: 12529303

Title: Reevaluating human gene annotation: a second-generation analysis of chromosome 22.

PubMed ID: 12529303

DOI: 10.1101/gr.695703

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15229189

Title: Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.

PubMed ID: 15229189

DOI: 10.1093/hmg/ddh197

PubMed ID: 17189203

Title: The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

PubMed ID: 17189203

DOI: 10.1016/j.cmet.2006.12.001

PubMed ID: 19336478

Title: Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

PubMed ID: 19336478

DOI: 10.1093/hmg/ddp158

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24403053

Title: Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.

PubMed ID: 24403053

DOI: 10.1093/hmg/ddu003

PubMed ID: 25959673

Title: Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

PubMed ID: 25959673

DOI: 10.1016/j.cmet.2015.04.012

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29154948

Title: The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.

PubMed ID: 29154948

DOI: 10.1016/j.bbamcr.2017.11.010

PubMed ID: 28330871

Title: Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.

PubMed ID: 28330871

DOI: 10.1074/jbc.m117.778514

PubMed ID: 26741492

Title: A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.

PubMed ID: 26741492

DOI: 10.1371/journal.pgen.1005679

PubMed ID: 29381136

Title: COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis.

PubMed ID: 29381136

DOI: 10.7554/elife.32572

PubMed ID: 17850752

Title: A structural characterization of human SCO2.

PubMed ID: 17850752

DOI: 10.1016/j.str.2007.07.011

PubMed ID: 10749987

Title: Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

PubMed ID: 10749987

DOI: 10.1093/hmg/9.5.795

PubMed ID: 11673586

Title: Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

PubMed ID: 11673586

DOI: 10.1212/wnl.57.8.1440

PubMed ID: 14994243

Title: Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

PubMed ID: 14994243

DOI: 10.1002/ajmg.a.20466

PubMed ID: 19353847

Title: A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

PubMed ID: 19353847

DOI: 10.5414/npp28143

PubMed ID: 23643385

Title: Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

PubMed ID: 23643385

DOI: 10.1016/j.ajhg.2013.04.005

PubMed ID: 25525168

Title: Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

PubMed ID: 25525168

DOI: 10.1167/iovs.14-14850

Sequence Information:

Length: 266
Mass: 29810
Checksum: BC2F40E057329BF3
Sequence:

MLLLTRSPTA WHRLSQLKPR VLPGTLGGQA LHLRSWLLSR QGPAETGGQG QPQGPGLRTR 
LLITGLFGAG LGGAWLALRA EKERLQQQKR TEALRQAAVG QGDFHLLDHR GRARCKADFR 
GQWVLMYFGF THCPDICPDE LEKLVQVVRQ LEAEPGLPPV QPVFITVDPE RDDVEAMARY 
VQDFHPRLLG LTGSTKQVAQ ASHSYRVYYN AGPKDEDQDY IVDHSIAIYL LNPDGLFTDY 
YGRSRSAEQI SDSVRRHMAA FRSVLS

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SCO2

Associated with

Other Information

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. PubMed ID: 10545952

Reevaluating human gene annotation: a second-generation analysis of chromosome 22. PubMed ID: 12529303

A genome annotation-driven approach to cloning the human ORFeome. PubMed ID: 15461802

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. PubMed ID: 15229189

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. PubMed ID: 17189203

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. PubMed ID: 19336478

Initial characterization of the human central proteome. PubMed ID: 21269460

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. PubMed ID: 24403053

Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. PubMed ID: 25959673

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. PubMed ID: 29154948

Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. PubMed ID: 28330871

A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PubMed ID: 26741492

COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. PubMed ID: 29381136

A structural characterization of human SCO2. PubMed ID: 17850752

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. PubMed ID: 10749987

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. PubMed ID: 11673586

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. PubMed ID: 14994243

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. PubMed ID: 19353847

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. PubMed ID: 23643385

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. PubMed ID: 25525168