ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)

Gene

• Entrez ID: 91647
• Gene name: ATP synthase mitochondrial F1 complex assembly factor 2
• Gene symbol: ATPAF2
• Synonyms (NCBI Gene): ATP12, ATP12p, LP3663, MC5DN1
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894554	A>C,T	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs746446116	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044400	hsa-miR-320a	CLASH	23622248
MIRT810261	hsa-miR-224	CLIP-seq
MIRT810262	hsa-miR-3614-5p	CLIP-seq
MIRT810263	hsa-miR-759	CLIP-seq
MIRT810261	hsa-miR-224	CLIP-seq
MIRT810262	hsa-miR-3614-5p	CLIP-seq
MIRT1939457	hsa-miR-4760-3p	CLIP-seq
MIRT1939458	hsa-miR-939	CLIP-seq
MIRT2178701	hsa-miR-3155	CLIP-seq
MIRT2178702	hsa-miR-3155b	CLIP-seq
MIRT2178703	hsa-miR-3194-5p	CLIP-seq
MIRT2178704	hsa-miR-3929	CLIP-seq
MIRT2178705	hsa-miR-4323	CLIP-seq
MIRT2178706	hsa-miR-4419b	CLIP-seq
MIRT2178707	hsa-miR-4434	CLIP-seq
MIRT2178708	hsa-miR-4438	CLIP-seq
MIRT2178709	hsa-miR-4478	CLIP-seq
MIRT2178710	hsa-miR-4516	CLIP-seq
MIRT2178711	hsa-miR-4531	CLIP-seq
MIRT2178712	hsa-miR-4649-3p	CLIP-seq
MIRT2178713	hsa-miR-4758-3p	CLIP-seq
MIRT1939457	hsa-miR-4760-3p	CLIP-seq
MIRT2178714	hsa-miR-484	CLIP-seq
MIRT2178703	hsa-miR-3194-5p	CLIP-seq
MIRT2444480	hsa-miR-4786-3p	CLIP-seq
MIRT2444481	hsa-miR-671-5p	CLIP-seq
MIRT2178703	hsa-miR-3194-5p	CLIP-seq
MIRT2464897	hsa-miR-3613-3p	CLIP-seq
MIRT2464898	hsa-miR-3614-3p	CLIP-seq
MIRT2675757	hsa-miR-4300	CLIP-seq
MIRT2675758	hsa-miR-4474-3p	CLIP-seq
MIRT2675759	hsa-miR-4723-5p	CLIP-seq
MIRT2675760	hsa-miR-4793-3p	CLIP-seq
MIRT2675761	hsa-miR-604	CLIP-seq
MIRT2675762	hsa-miR-647	CLIP-seq
MIRT2675763	hsa-miR-920	CLIP-seq
MIRT1939458	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11410595, 21516116, 25416956, 25910212, 27499296, 28514442, 28719601, 29892012, 31515488, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IGI	11410595
GO:0005829	Component	Cytosol	IDA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IBA
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IGI	11410595
GO:0043461	Process	Proton-transporting ATP synthase complex assembly	IEA
GO:0043461	Process	Proton-transporting ATP synthase complex assembly	NAS	14757859

Other IDs

• MIM: 608918
• HGNC: 18802
• e!Ensembl: ENSG00000171953

Protein

• UniProt ID: Q8N5M1
• Protein name: ATP synthase mitochondrial F1 complex assembly factor 2 (ATP12 homolog)
• Protein function: Plays a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07542	ATP12	47 → 166	ATP12 chaperone protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11410595}.
• Sequence:

  MWRSCLRLRDGGRRLLNRPAGGPSASMSPGPTIPSPARAYAPPTERKRFYQNVSITQGEG
  GFEINLDHRKLKTPQAKLFTVPSEALAIAVATEWDSQQDTIKYYTMHLTTLCNTSLDNPT
  QRNKDQLIRAAVKFLDTDTICYRVEEPETLVELQRNEWDPIIEWAEKRYGVEISSSTSIM
  GPSIPAKTREVLVSHLASYNTWALQGIEFVAAQLKSMVLTLGLIDLRLTVEQAVLLSRLE
  EEYQIQKWGNIEWAHDYELQELRARTAAGTLFIHLCSESTTVKHKLLKE

• Sequence length: 289

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	Likely pathogenic	rs2044747934	RCV001195756

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ATPAF2-related disorder	Benign; Likely benign	rs62073570, rs33997182, rs143705642, rs138666486	RCV003915234 RCV003925229 RCV003957421 RCV003956526
Microcephaly	Uncertain significance	rs550175976	RCV001252933
See cases	Uncertain significance	rs752169082	RCV002252624

Associations from Text Mining
Disease Name	Relationship Type	References
Dementia	Associate	20167577
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Associate	14757859
Mitochondrial Diseases	Associate	14757859