Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	91647
Gene name	ATP synthase mitochondrial F1 complex assembly factor 2
Gene symbol	ATPAF2
Synonyms (NCBI Gene)	ATP12ATP12pLP3663MC5DN1
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.

Show/Hide all (2)

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

Show/Hide all (37)

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

Show/Hide all (13)

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

MIM	HGNC	e!Ensembl
608918	18802	ENSG00000171953

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	Likely pathogenic	rs2044747934	RCV001195756	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATPAF2-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 1	—	CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20167577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20167577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	ORPHANET_DG	14757859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	UNIPROT_DG	14757859		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	19933271, 27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	14757859	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	19933271, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presenile dementia	Senile Dementia	BEFREE	20167577		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)