Sco2 SCO2 cytochrome c oxidase assembly protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sco2provided by MGI
Official Full Name: SCO2 cytochrome c oxidase assembly proteinprovided by MGI
Primary source: MGI:MGI:3818630
See related: Ensembl:ENSMUSG00000091780 AllianceGenome:MGI:3818630
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable protein-disulfide reductase activity. Acts upstream of or within several processes, including copper ion homeostasis; respiratory chain complex IV assembly; and response to activity. Located in mitochondrion. Is expressed in several structures, including alimentary system; aorta; blastocyst; gonad; and hemolymphoid system gland. Used to study cytochrome-c oxidase deficiency disease. Human ortholog(s) of this gene implicated in cytochrome-c oxidase deficiency disease; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1; hypertrophic cardiomyopathy; and myopia. Orthologous to human SCO2 (synthesis of cytochrome C oxidase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in duodenum adult (RPKM 273.4), liver adult (RPKM 183.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 44.85 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (89255833..89258094, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (89371630..89373891, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sco2 deficient mice develop increased adiposity, liver steatosis, and insulin resistance.
Title: Sco2 deficient mice develop increased adiposity and insulin resistance.
Data suggest that physical exercise attenuates age-related changes in mitochondrial COX biogenesis and p53 activity targeting SCO2 and mitochondria, and thereby induces antisenescent and protective effects in cardiac muscle.
Title: Physical exercise regulates p53 activity targeting SCO2 and increases mitochondrial COX biogenesis in cardiac muscle with age.
Results describe the tissue distribution of SCO1 and SCO2 in mouse and human tissues.
Title: Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
To understand the biological role of SCO2, mice harboring both a Sco2 knock-out (KO) allele and a Sco2 knock-in (KI) E129K allele, corresponding to the common E140K mutation in humans, were studied.
Title: Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
findings show that p53 modulates the balance between the utilization of respiratory and glycolytic pathways; identifed Synthesis of Cytochrome c Oxidase 2 (SCO2) as the downstream mediator of this effect
Title: p53 regulates mitochondrial respiration.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Ertd785e (e-PCR), detects polymorphism
- UniSTS:167180

RH128722 (e-PCR)
- UniSTS:212030

Tymp (e-PCR), detects polymorphism
- UniSTS:547168

RH136025 (e-PCR)
- UniSTS:210021

AW743235 (e-PCR)
- UniSTS:209131

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables copper chaperone activity	IEA Inferred from Electronic Annotation more info
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-disulfide reductase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within copper ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular copper ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory chain complex IV assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myofibril	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: protein SCO2 homolog, mitochondrial

Names: SCO cytochrome oxidase deficient homolog 2

NP_001104758.1

EC 2.4.2.4

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001111288.2 → NP_001104758.1 protein SCO2 homolog, mitochondrial

See identical proteins and their annotated locations for NP_001104758.1

Status: VALIDATED

Source sequence(s)

AC113976

Consensus CDS

CCDS49701.1

UniProtKB/Swiss-Prot

Q8VCL2

UniProtKB/TrEMBL

Q9D6E8

Related

ENSMUSP00000131943.3, ENSMUST00000167643.4

Conserved Domains (1) summary

cd02968
Location:90 → 231

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 ...