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SCO2 SCO2 cytochrome c oxidase assembly protein [ Homo sapiens (human) ]

Gene ID: 9997, updated on 8-May-2016
Official Symbol
SCO2provided by HGNC
Official Full Name
SCO2 cytochrome c oxidase assembly proteinprovided by HGNC
Primary source
HGNC:HGNC:10604
See related
Ensembl:ENSG00000130489 HPRD:05042; MIM:604272; Vega:OTTHUMG00000150251
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYP6; SCO1L; CEMCOX1
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 multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
Orthologs
Location:
22q13.33
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (50523568..50526439, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50961997..50964868, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene adrenomedullin 2 Neighboring gene myo-inositol oxygenase Neighboring gene lipase maturation factor 2 Neighboring gene non-SMC condensin II complex subunit H2 Neighboring gene thymidine phosphorylase Neighboring gene outer dense fiber of sperm tails 3B Neighboring gene uncharacterized LOC102724608 Neighboring gene uncharacterized LOC105373098

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
MedGen: C1858424 OMIM: 604377 GeneReviews: Not available
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Myopia 6
MedGen: C1837148 OMIM: 608908 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Respiratory electron transport, organism-specific biosystem (from REACTOME)
    Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
  • Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
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  • pyrimidine deoxyribonucleosides degradation, organism-specific biosystem (from BIOCYC)
    pyrimidine deoxyribonucleosides degradation, organism-specific biosystemGeneral Background The pyrimidine deoxyribonucleosides : THYMIDINE and : DEOXYCYTIDINE can be degraded to the : DEOXY-D-RIBOSE-1-PHOSPHATE moiety and the free pyrimidine nucleobases : THYMINE and :...
  • pyrimidine deoxyribonucleosides degradation, conserved biosystem (from BIOCYC)
    pyrimidine deoxyribonucleosides degradation, conserved biosystemThe pyrimidine deoxyribonucleosides |FRAME: THYMIDINE| and |FRAME: DEOXYURIDINE| can be degraded by phosphorylases that remove the |FRAME: DEOXY-D-RIBOSE-1-PHOSPHATE| moiety, leaving the free pyrimid...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC125823, MGC125825

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular copper ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
copper ion transport IEA
Inferred from Electronic Annotation
more info
 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
muscle system process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
respiratory chain complex IV assembly IEA
Inferred from Electronic Annotation
more info
 
respiratory electron transport chain IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
myofibril IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
protein SCO2 homolog, mitochondrial
Names
SCO cytochrome oxidase deficient homolog 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016235.1 RefSeqGene

    Range
    5001..7872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001169109.1NP_001162580.1  protein SCO2 homolog, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001162580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    BM787182, U62317
    Consensus CDS
    CCDS14095.1
    UniProtKB/Swiss-Prot
    O43819
    Related
    ENSP00000444433, ENST00000543927
    Conserved Domains (1) summary
    cd02968
    Location:101242
    SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...
  2. NM_001169110.1NP_001162581.1  protein SCO2 homolog, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001162581.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    BG392981, U62317
    Consensus CDS
    CCDS14095.1
    UniProtKB/Swiss-Prot
    O43819
    Related
    ENSP00000444242, ENST00000535425
    Conserved Domains (1) summary
    cd02968
    Location:101242
    SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...
  3. NM_001169111.1NP_001162582.1  protein SCO2 homolog, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001162582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    U62317
    Consensus CDS
    CCDS14095.1
    UniProtKB/Swiss-Prot
    O43819
    Related
    ENSP00000252785, OTTHUMP00000196773, ENST00000252785, OTTHUMT00000317091
    Conserved Domains (1) summary
    cd02968
    Location:101242
    SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...
  4. NM_005138.2NP_005129.2  protein SCO2 homolog, mitochondrial precursor

    See identical proteins and their annotated locations for NP_005129.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AL021683, BC102025, BQ878572, CN409692
    Consensus CDS
    CCDS14095.1
    UniProtKB/Swiss-Prot
    O43819
    Related
    ENSP00000379046, OTTHUMP00000196772, ENST00000395693, OTTHUMT00000317090
    Conserved Domains (1) summary
    cd02968
    Location:101242
    SCO; SCO (an acronym for Synthesis of Cytochrome c Oxidase) family; composed of proteins similar to Sco1, a membrane-anchored protein possessing a soluble domain with a TRX fold. Members of this family are required for the proper assembly of cytochrome c ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    50523568..50526439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    50920734..50923605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)