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SCO2 synthesis of cytochrome C oxidase 2 [ Homo sapiens (human) ]

Gene ID: 9997, updated on 5-Jul-2020

Summary

Official Symbol
SCO2provided by HGNC
Official Full Name
synthesis of cytochrome C oxidase 2provided by HGNC
Primary source
HGNC:HGNC:10604
See related
Ensembl:ENSG00000284194 MIM:604272
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
TP; MYP6; TYMP; ECGF1; SCO1L; CEMCOX1; PD-ECGF; TdRPase; Gliostatin
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]
Expression
Ubiquitous expression in spleen (RPKM 14.8), bone marrow (RPKM 14.4) and 25 other tissues See more
Orthologs

Genomic context

See SCO2 in Genome Data Viewer
Location:
22q13.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein disulfide oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
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
 
mitochondrial respiratory chain complex IV assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex IV assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle system process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
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
integral component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
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 

General protein information

Preferred Names
protein SCO2 homolog, mitochondrial
Names
Platelet-derived endothelial cell growth factor
SCO cytochrome c oxidase assembly protein 2
SCO cytochrome oxidase deficient homolog 2
SCO2, cytochrome c oxidase assembly protein
Thymidine phosphorylase
NP_001162580.1
NP_001162581.1
NP_001162582.1
NP_005129.2

NCBI Reference Sequences (RefSeq)

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
    ENSP00000444433.1, ENST00000543927.6
    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
    ENSP00000444242.1, ENST00000535425.5
    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
    ENSP00000252785.3, ENST00000252785.3
    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_005138.3NP_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
    ENSP00000379046.3, ENST00000395693.7
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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