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
Notes	MSeqDR-LSDB
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))
HGMD	ATPAF2
GeneCards	ATPAF2
GeneTests	ATPAF2

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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