Identity
HGNC
LOCATION
4q24
LOCUSID
ALIAS
HSPC124,SCFAI,SCFI,SID6-306
FUSION GENES
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
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
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/gene-explorer/case-report-explorer/
