TMEM70 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol TMEM70
Gene name transmembrane protein 70
Chromosome 8
Chromosomal band q21.11
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_001040613.2, NM_017866.5, NR_033334.1
Associated with diseases 614052
Citation reference(s) -
Curators (0) -
Total number of public variants reported 63
Unique public DNA variants reported 61
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 26050
Entrez Gene 54968
PubMed articles TMEM70
OMIM - Gene 612418
OMIM - Diseases 614052 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3))
GeneCards TMEM70
GeneTests TMEM70

Active transcripts




NCBI ID     

NCBI Protein ID     

00000334 8 transcript variant 2 NM_001040613.2 NP_001035703.1 63
00000335 8 transcript variant 3 NR_033334.1 - 63
00000336 8 transcript variant 1 NM_017866.5 NP_060336.3 63

Copyright & disclaimer
Sources: GeneDX ; NuclearMitome ; MitoCarta

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium