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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27068
Gene name Gene Name - the full gene name approved by the HGNC.	Inorganic pyrophosphatase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PPA2
Synonyms (NCBI Gene) Gene synonyms aliases	HSPC124, SCFAI, SCFI, SID6-306
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q24
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrol

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138215926	G>A	Pathogenic	Missense variant, coding sequence variant
rs139076647	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs146013446	C>T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs151331559	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs546693824	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs772083375	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057517678	T>G	Pathogenic	Coding sequence variant, missense variant
rs1057517679	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1057517680	C>A	Pathogenic	Coding sequence variant, missense variant, intron variant

Show/Hide all(112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016388	hsa-miR-193b-3p	Proteomics	21512034
MIRT023639	hsa-miR-1-3p	Proteomics	18668040
MIRT1251165	hsa-miR-4677-3p	CLIP-seq
MIRT1251166	hsa-miR-4679	CLIP-seq
MIRT1251167	hsa-miR-3074-3p	CLIP-seq
MIRT2074102	hsa-miR-122	CLIP-seq
MIRT2074103	hsa-miR-1224-3p	CLIP-seq
MIRT2074104	hsa-miR-1913	CLIP-seq
MIRT2074105	hsa-miR-193a-3p	CLIP-seq
MIRT2074106	hsa-miR-193b	CLIP-seq
MIRT2074107	hsa-miR-216b	CLIP-seq
MIRT2074108	hsa-miR-3135	CLIP-seq
MIRT2074109	hsa-miR-3135b	CLIP-seq
MIRT2074110	hsa-miR-324-3p	CLIP-seq
MIRT2074111	hsa-miR-3545-3p	CLIP-seq
MIRT2074112	hsa-miR-3652	CLIP-seq
MIRT2074113	hsa-miR-3663-5p	CLIP-seq
MIRT2074114	hsa-miR-3929	CLIP-seq
MIRT2074115	hsa-miR-4419b	CLIP-seq
MIRT2074116	hsa-miR-4430	CLIP-seq
MIRT2074117	hsa-miR-4435	CLIP-seq
MIRT2074118	hsa-miR-4478	CLIP-seq
MIRT2074119	hsa-miR-4635	CLIP-seq
MIRT2074120	hsa-miR-4680-5p	CLIP-seq
MIRT2074121	hsa-miR-4755-3p	CLIP-seq
MIRT2074122	hsa-miR-645	CLIP-seq
MIRT2074123	hsa-miR-892b	CLIP-seq
MIRT2074102	hsa-miR-122	CLIP-seq
MIRT2074103	hsa-miR-1224-3p	CLIP-seq
MIRT2074104	hsa-miR-1913	CLIP-seq
MIRT2074107	hsa-miR-216b	CLIP-seq
MIRT2074108	hsa-miR-3135	CLIP-seq
MIRT2074109	hsa-miR-3135b	CLIP-seq
MIRT2074110	hsa-miR-324-3p	CLIP-seq
MIRT2074111	hsa-miR-3545-3p	CLIP-seq
MIRT2301123	hsa-miR-3614-5p	CLIP-seq
MIRT2074112	hsa-miR-3652	CLIP-seq
MIRT2074114	hsa-miR-3929	CLIP-seq
MIRT2301124	hsa-miR-4294	CLIP-seq
MIRT2074115	hsa-miR-4419b	CLIP-seq
MIRT2074116	hsa-miR-4430	CLIP-seq
MIRT2074118	hsa-miR-4478	CLIP-seq
MIRT2301125	hsa-miR-4670-3p	CLIP-seq
MIRT2074120	hsa-miR-4680-5p	CLIP-seq
MIRT2074122	hsa-miR-645	CLIP-seq
MIRT2301126	hsa-miR-890	CLIP-seq
MIRT2456968	hsa-miR-1273f	CLIP-seq
MIRT2456969	hsa-miR-3149	CLIP-seq
MIRT2456970	hsa-miR-3170	CLIP-seq
MIRT2456971	hsa-miR-3976	CLIP-seq
MIRT2456972	hsa-miR-4735-5p	CLIP-seq
MIRT2456973	hsa-miR-4775	CLIP-seq
MIRT2456974	hsa-miR-4794	CLIP-seq
MIRT2456975	hsa-miR-590-3p	CLIP-seq
MIRT2456976	hsa-miR-633	CLIP-seq
MIRT2074103	hsa-miR-1224-3p	CLIP-seq
MIRT2597684	hsa-miR-1234	CLIP-seq
MIRT2456968	hsa-miR-1273f	CLIP-seq
MIRT2597685	hsa-miR-1343	CLIP-seq
MIRT2597686	hsa-miR-139-5p	CLIP-seq
MIRT2074104	hsa-miR-1913	CLIP-seq
MIRT2597687	hsa-miR-193a-5p	CLIP-seq
MIRT2456969	hsa-miR-3149	CLIP-seq
MIRT2456970	hsa-miR-3170	CLIP-seq
MIRT2074110	hsa-miR-324-3p	CLIP-seq
MIRT2597688	hsa-miR-3618	CLIP-seq
MIRT2597689	hsa-miR-378g	CLIP-seq
MIRT2456971	hsa-miR-3976	CLIP-seq
MIRT2597690	hsa-miR-4277	CLIP-seq
MIRT2597691	hsa-miR-4437	CLIP-seq
MIRT2597692	hsa-miR-4438	CLIP-seq
MIRT2597693	hsa-miR-4659a-3p	CLIP-seq
MIRT2597694	hsa-miR-4659b-3p	CLIP-seq
MIRT2597695	hsa-miR-4674	CLIP-seq
MIRT2456972	hsa-miR-4735-5p	CLIP-seq
MIRT2456973	hsa-miR-4775	CLIP-seq
MIRT2456974	hsa-miR-4794	CLIP-seq
MIRT2597696	hsa-miR-501-3p	CLIP-seq
MIRT2597697	hsa-miR-502-3p	CLIP-seq
MIRT2597698	hsa-miR-5095	CLIP-seq
MIRT2456975	hsa-miR-590-3p	CLIP-seq
MIRT2456976	hsa-miR-633	CLIP-seq
MIRT2597699	hsa-miR-767-5p	CLIP-seq
MIRT2074102	hsa-miR-122	CLIP-seq
MIRT2456968	hsa-miR-1273f	CLIP-seq
MIRT2597685	hsa-miR-1343	CLIP-seq
MIRT2074108	hsa-miR-3135	CLIP-seq
MIRT2074109	hsa-miR-3135b	CLIP-seq
MIRT2456969	hsa-miR-3149	CLIP-seq
MIRT2456970	hsa-miR-3170	CLIP-seq
MIRT2688382	hsa-miR-3182	CLIP-seq
MIRT2074112	hsa-miR-3652	CLIP-seq
MIRT2597689	hsa-miR-378g	CLIP-seq
MIRT2074114	hsa-miR-3929	CLIP-seq
MIRT2456971	hsa-miR-3976	CLIP-seq
MIRT2597690	hsa-miR-4277	CLIP-seq
MIRT2074115	hsa-miR-4419b	CLIP-seq
MIRT2074116	hsa-miR-4430	CLIP-seq
MIRT2597691	hsa-miR-4437	CLIP-seq
MIRT2074118	hsa-miR-4478	CLIP-seq
MIRT2597693	hsa-miR-4659a-3p	CLIP-seq
MIRT2597694	hsa-miR-4659b-3p	CLIP-seq
MIRT2597695	hsa-miR-4674	CLIP-seq
MIRT2456972	hsa-miR-4735-5p	CLIP-seq
MIRT2456973	hsa-miR-4775	CLIP-seq
MIRT2456974	hsa-miR-4794	CLIP-seq
MIRT2597696	hsa-miR-501-3p	CLIP-seq
MIRT2597697	hsa-miR-502-3p	CLIP-seq
MIRT2456975	hsa-miR-590-3p	CLIP-seq
MIRT2456976	hsa-miR-633	CLIP-seq
MIRT2074122	hsa-miR-645	CLIP-seq
MIRT2597699	hsa-miR-767-5p	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004427	Function	Inorganic diphosphate phosphatase activity	IBA
GO:0004427	Function	Inorganic diphosphate phosphatase activity	IDA	27523597
GO:0004427	Function	Inorganic diphosphate phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	27523597
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006796	Process	Phosphate-containing compound metabolic process	IBA
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	27523598
GO:0071344	Process	Diphosphate metabolic process	IMP	27523597

MIM	HGNC	e!Ensembl
609988	28883	ENSG00000138777

Protein

UniProt ID

Q9H2U2

Protein name

Inorganic pyrophosphatase 2, mitochondrial (EC 3.6.1.1) (Pyrophosphatase SID6-306) (Pyrophosphate phospho-hydrolase 2) (PPase 2)

Protein function

Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598). {ECO:0000269|PubMed:27523597, ECO:0000269

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00719	Pyrophosphatase	94 → 276	Inorganic pyrophosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium. {ECO:0000269|PubMed:15210126}.

Sequence

MSALLRLLRTGAPAAACLRLGTSAGTGSRRAMALYHTEERGQPCSQNYRLFFKNVTGHYI
SPFHDIPLKVNSKEENGIPMKKARNDEYENLFNMIVEIPRWTNAKMEIATKEPMNPIKQY
VKDGKLRYVANIFPYKGYIWNYGTLPQTWEDPHEKDKSTNCFGDNDPIDVCEIGSKILSC
GEVIHVKILGILALIDEGETDWKLIAINANDPEASKFHDIDDVKKFKPGYLEATLNWFRL
YKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKALLMKKCNGGAINCTNVQISDSPF
RCTQEEARSLVESVSSSPNKESNEEEQVWHFLGK

Sequence length

334

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation		Mitochondrial tRNA aminoacylation Pyrophosphate hydrolysis

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
SUDDEN CARDIAC FAILURE	sudden cardiac failure, infantile	rs772083375, rs1057517678, rs146013446, rs1057517679, rs1057517680, rs138215926, rs546693824, rs1187924642	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	26354892, 39176095
Cardiomyopathies	Associate	31705601, 34400813, 38582264
Death	Associate	31705601
Death Sudden	Associate	31705601, 38582264
Death Sudden Cardiac	Associate	27523598, 33028643, 34400813, 38582264
Disease	Associate	38582264
Heart Arrest	Associate	27523598, 37269378, 38582264
Heart Diseases	Associate	34400813
Heart Failure	Associate	34400813
Hypertension	Associate	33028643
Immunologic Deficiency Syndromes	Inhibit	38582264
Mitochondrial Diseases	Associate	27523598, 38582264
Neoplasms	Associate	39176095
Neuroblastoma	Associate	38014648
Pathological Conditions Anatomical	Associate	37269378
Sudden Unexpected Death in Epilepsy	Associate	31705601
Virus Diseases	Associate	34400813
Vocal Cord Paralysis	Associate	33028643

PPA2 (inorganic pyrophosphatase 2)