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 enable protein-disulfide reductase activity. Predicted to be involved in eye development and mitochondrial cytochrome c oxidase assembly. Predicted to act upstream of or within cellular copper ion homeostasis and respiratory chain complex IV assembly. Predicted to be 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
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
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 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
Domain Details Per Protein
Protein Length Copper chaperone SCO1/SenC Synthesis of cytochrome c oxidase, Sco1/Sco2 Thioredoxin-like superfamily
UniProtKB:Q5RH02 279
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations