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
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))
GeneCards ATP5E
GeneTests ATP5E

Active transcripts




NCBI ID     

NCBI Protein ID     

00000045 20 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit NM_006886.3 NP_008817.1 2

Copyright & disclaimer
Sources: GeneDX ; NuclearMitome ; MitoCarta

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium