PPA2 (inorganic pyrophosphatase 2)

2016-10-01 Affiliation

Identity

HGNC

PPA2

LOCATION

4q24

LOCUSID

27068

ALIAS

HSPC124,SCFAI,SCFI,SID6-306

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 27068
MIM: 609988
HGNC: 28883
Ensembl: ENSG00000138777

Variants:

dbSNP: 27068
ClinVar: 27068
TCGA: ENSG00000138777
COSMIC: PPA2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000138777	ENST00000341695	Q9H2U2
ENSG00000138777	ENST00000348706	Q9H2U2
ENSG00000138777	ENST00000351450	F8W7R6
ENSG00000138777	ENST00000354147	Q9H2U2
ENSG00000138777	ENST00000432483	Q9H2U2
ENSG00000138777	ENST00000502596	D6RGI1
ENSG00000138777	ENST00000504028	D6RGV9
ENSG00000138777	ENST00000506815	H0Y8X2
ENSG00000138777	ENST00000508518	H0Y9D8
ENSG00000138777	ENST00000509031	A0A0C4DGB9
ENSG00000138777	ENST00000510015	D6R967
ENSG00000138777	ENST00000513649	D6RAD3
ENSG00000138777	ENST00000514209	F8W7R6
ENSG00000138777	ENST00000515567	H0YAK2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Oxidative phosphorylation	KEGG	hsa00190
Gene Expression	REACTOME	R-HSA-74160
tRNA Aminoacylation	REACTOME	R-HSA-379724
Mitochondrial tRNA aminoacylation	REACTOME	R-HSA-379726
Metabolism	REACTOME	R-HSA-1430728
Pyrophosphate hydrolysis	REACTOME	R-HSA-71737

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated		PD
PA451257	risperidone	Chemical	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
34400813	2021	PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.	7
34400813	2021	PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.	7
31705601	2020	Sudden unexpected death in asymptomatic infants due to PPA2 variants.	13
33036755	2020	Structural and biochemical characterization of inorganic pyrophosphatase from Homo sapiens.	2
31705601	2020	Sudden unexpected death in asymptomatic infants due to PPA2 variants.	13
33036755	2020	Structural and biochemical characterization of inorganic pyrophosphatase from Homo sapiens.	2
27523597	2016	Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.	24
27523598	2016	Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.	25
27523597	2016	Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.	24
27523598	2016	Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.	25
23241943	2013	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	14
23241943	2013	Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.	14
20332099	2010	A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.	8
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20

Citation

Dessen P

PPA2 (inorganic pyrophosphatase 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56151