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Gene table of ATPAF2 :
ATP synthase mitochondrial F1 complex assembly factor 2
Gene-disease associations table
Disease ID
Disease name
Source of annotation with ATPAF2
OMIM link
Number of associated genes
genes
604273
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
ClinVar, OMIM, HUMSAVAR
link to OMIM
1
ATPAF2
Download the gene annotation in CSV format
Annotation of the gene ATPAF2
Associated genes in ENSEMBL
ENSG00000171953
Associated proteins - SwissProt Accession ID
Q8N5M1
Associated PDB IDs
Cytogenetic Band
17p11.2
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO term
GO ID
GO IC
binding
GO:0005488
0.18
protein binding
GO:0005515
0.46