SCO2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SCO2
Gene name SCO2 cytochrome c oxidase assembly protein
Chromosome 22
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_001169109.1, NM_001169110.1, NM_001169111.1, NM_005138.2
Associated with diseases CEMCOX1
Citation reference(s) -
Curators (0) -
Total number of public variants reported 90
Unique public DNA variants reported 76
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 10604
Entrez Gene 9997
PubMed articles SCO2
OMIM - Gene 604272
OMIM - Diseases CEMCOX1 (CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1)
HGMD SCO2
GeneCards SCO2
GeneTests SCO2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000292 22 SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 1 NM_005138.2 NP_005129.2 90
00000290 22 SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 2 NM_001169109.1 NP_001162580.1 84
00000291 22 SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 3 NM_001169110.1 NP_001162581.1 84
00000293 22 SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 4 NM_001169111.1 NP_001162582.1 84


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium