ATPAF2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ATPAF2
Gene name ATP synthase mitochondrial F1 complex assembly factor 2
Chromosome 17
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_145691.3, XM_005256848.1
Associated with diseases 604273
Citation reference(s) -
Curators (0) -
Total number of public variants reported 19
Unique public DNA variants reported 18
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 12, 2013
Date last updated November 14, 2013
Version ATPAF2:131114

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 18802
Entrez Gene 91647
PubMed articles ATPAF2
OMIM - Gene 608918
OMIM - Diseases 604273 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3))
GeneCards ATPAF2
GeneTests ATPAF2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000547 17 ATP synthase mitochondrial F1 complex assembly factor 2 NM_145691.3 NP_663729.1 19
00000548 17 transcript variant X1 XM_005256848.1 XP_005256905.1 19

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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium