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

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; AllianceGenome:HGNC:10604
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; MC4DN2; 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: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50523568..50526442, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (51034133..51037007, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (50961997..50964871, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation.
Title: TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation.
Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals.
Title: Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals.
High expression of synthesis of cytochrome c oxidase 2 and TP53-induced glycolysis and apoptosis regulator can predict poor prognosis in human lung adenocarcinoma
Title: High expression of synthesis of cytochrome c oxidase 2 and TP53-induced glycolysis and apoptosis regulator can predict poor prognosis in human lung adenocarcinoma.
We identified one novel possibility of an extreme myopia-causing mutation in SCO2. No other disease-causing mutation was found in 101 extremely myopic Japanese patients, suggesting that SCO2 plays a limited role in Japanese extreme myopia.
Title: Association between SCO2 mutation and extreme myopia in Japanese patients.
In gastric cancer, the expression of SCO2 and COX were not shown to be associated with the regulatory role of p53, unlike TIGAR expression. Nevertheless, a significantly high recurrence rate was found in a patient group with high COX expression
Title: Distinctive interrelation of p53 with SCO2, COX, and TIGAR in human gastric cancer.
oxidative stress-induced glycolysis-to-OXPHOS switch is mediated by synthesis of cytochrome c oxidase 2 (SCO2). These findings demonstrate p53-mediated OXPHOS function as a compensatory alteration in Fanconi anemia (FA)hematopoietic stem cells to ensure a functional but mildly impaired energy metabolism and suggest a cautious approach to manipulating p53 signaling in FA.
Title: SCO2 Mediates Oxidative Stress-Induced Glycolysis to Oxidative Phosphorylation Switch in Hematopoietic Stem Cells.
Geranylgeranoic acid increased the SCO2 gene expression, which might enhance aerobic respiration.
Title: Upregulation of energy metabolism-related, p53-target TIGAR and SCO2 in HuH-7 cells with p53 mutation by geranylgeranoic acid treatment.
oncoprotein HBXIP enhances glucose metabolism reprogramming through suppressing SCO2 and PDHA1 in breast cancer
Title: The oncoprotein HBXIP promotes glucose metabolism reprogramming via downregulating SCO2 and PDHA1 in breast cancer.
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Title: Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Sco1 is a metallochaperone that selectively transfers Cu(I) ions based on loop recognition, whereas Sco2 is a copper-dependent thiol reductase of the cysteine ligands in the oxidase.
Title: Loop recognition and copper-mediated disulfide reduction underpin metal site assembly of CuA in human cytochrome oxidase.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MedGen: C5399977 OMIM: 604377 GeneReviews: Not available	Compare labs
Myopia 6 MedGen: C1837148 OMIM: 608908 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:50701

NoName (e-PCR)
- UniSTS:486936

RH92958 (e-PCR)
- UniSTS:87461

WI-11276 (e-PCR)
- UniSTS:14830

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper chaperone activity	IEA Inferred from Electronic Annotation more info
enables copper ion binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	TAS Traceable Author Statement more info	PubMed
involved_in muscle system process	IEA Inferred from Electronic Annotation more info
involved_in respiratory electron transport chain	IEA Inferred from Electronic Annotation more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.4.2.4

NP_001162581.1

EC 2.4.2.4

NP_001162582.1

EC 2.4.2.4

NP_005129.2

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.

Genomic

NG_016235.1 RefSeqGene

Range

5842..7872

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001169109.2 → NP_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, Q3T1B5, Q9UK87

Related

ENSP00000444433.1, ENST00000543927.6

Conserved Domains (1) summary

cd02968
Location:101 → 242

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 ...
NM_001169110.1 → NP_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, Q3T1B5, Q9UK87

Related

ENSP00000444242.1, ENST00000535425.5

Conserved Domains (1) summary

cd02968
Location:101 → 242

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 ...
NM_001169111.2 → NP_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, Q3T1B5, Q9UK87

Related

ENSP00000252785.3, ENST00000252785.3

Conserved Domains (1) summary

cd02968
Location:101 → 242

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 ...
NM_005138.3 → NP_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, Q3T1B5, Q9UK87

Related

ENSP00000379046.4, ENST00000395693.8

Conserved Domains (1) summary

cd02968
Location:101 → 242

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 ...