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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	91647
Gene name Gene Name - the full gene name approved by the HGNC.	ATP synthase mitochondrial F1 complex assembly factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATPAF2
Synonyms (NCBI Gene) Gene synonyms aliases	ATP12, ATP12p, LP3663, MC5DN1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MC5DN1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11410595, 21516116, 25416956, 25910212, 27499296, 28514442, 28719601, 29892012, 31515488, 32296183
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0016607	Component	Nuclear speck	IDA
GO:0043461	Process	Proton-transporting ATP synthase complex assembly	NAS	14757859

MIM	HGNC	e!Ensembl
608918	18802	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

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	23202125
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863 View all (210 more)	19933271, 14757859, 27604308

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mitochondrial Diseases	mitochondrial disease	GenCC
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (3)

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

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)