Gene

sco2

ID

ZDB-GENE-041210-173

Name

synthesis of cytochrome C oxidase 2

Symbol

sco2 Nomenclature History

Previous Names

si:dkey-202b22.3

Type

protein_coding_gene

Location

Chr: 4 Mapping Details/Browsers

Description

Predicted to have protein disulfide oxidoreductase activity. Predicted to be involved in eye development and mitochondrial respiratory chain complex IV assembly. Predicted to localize to integral component of mitochondrial inner membrane. 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sco2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
mitochondrial complex IV deficiency nuclear type 2	Alliance	Mitochondrial complex IV deficiency, nuclear type 2	604377
myopia	Alliance	Myopia 6	608908

Associated With sco2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR003782	Copper chaperone SCO1/SenC
Family	IPR017276	Synthesis of cytochrome c oxidase, Sco1/Sco2
Homologous_superfamily	IPR036249	Thioredoxin-like superfamily