ATP5E gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ATP5E
Gene name ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
Chromosome 20
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NC_000020.10
Transcript reference NM_006886.3
Associated with diseases 614053
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 1
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 838
Entrez Gene 514
PubMed articles ATP5E
OMIM - Gene 606153
OMIM - Diseases 614053 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3))
HGMD ATP5E
GeneCards ATP5E
GeneTests ATP5E


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000045 20 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit NM_006886.3 NP_008817.1 2


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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