| Type | Description |
|---|---|
| Definition | pyrophosphatase (inorganic) 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:38:00 | Sudden unexpected death in asymptomatic infants due to PPA2 variants. | 31705601 |
| 2021-03-28 19:07:00 | Structural and biochemical characterization of inorganic pyrophosphatase from Homo sapiens. | 33036755 |
| 2017-05-07 01:38:00 | data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants | 27523598 |
| 2017-05-07 01:38:00 | findings confirm the pathogenicity of PPA2 mutations and suggest that PPA2 is a cardiomyopathy-associated protein, which has a greater physiological importance in mitochondrial function than previously recognized | 27523597 |
| 2013-06-15 11:04:00 | Single nucleotide polymorphisms in PPA2 is associated with response to antipsychotic agents in schizophrenia. | 23241943 |
| Type | IDs |
|---|---|
| Synonymous | HSPC124, SCFAI, SCFI, SID6-306 |
| Gene |
UniProtKB-ID:
IPYR2_HUMAN
UniprotKB:
Q9H2U2
UniParc:
UPI0000367272,
UPI000013D9E2,
UPI000013EFD1,
UPI000013D5C3,
UPI0000D615A3
EMBL:
AL136655,
BC022803,
AF161473,
BC039462,
BC057219,
AF217187,
AC106888,
AK000466,
AB026722,
AK297096,
AC004066
Ensembl:
ENSG00000138777
KO:
hsa:27068
|
| Nucleutide sequences |
EMBL-CDS:
AAH22803.1,
AAG36781.1,
BAA84701.1,
AAH39462.2,
AAY41040.1,
AAF29088.1,
BAG59609.1,
BAA91184.1,
CAB66590.2,
AAH57219.1
Gene_ORFName:
HSPC124
Ensembl_TRS:
ENST00000354147,
ENST00000432483,
ENST00000348706,
ENST00000341695
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000389957,
ENSP00000340352,
ENSP00000313061,
ENSP00000343885
RefSeq:
NP_789845.1,
NP_008834.3,
NP_789842.2,
NP_789843.2
|
| Others |
UniRef100:
UniRef100_Q9H2U2
UniRef90:
UniRef90_Q9H2U2
UniRef50:
UniRef50_Q9H2U2
UniGene:
Hs.654957
CCDS:
CCDS34043.1,
CCDS3667.1,
CCDS3668.2,
CCDS3669.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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