Gene Gene information from NCBI Gene database.
Entrez ID 57546
Gene name Pyruvate dehydrogenase phosphatase catalytic subunit 2
Gene symbol PDP2
Synonyms (NCBI Gene)
PDPC 2PPM2BPPM2C2
Chromosome 16
Chromosome location 16q22.1
Summary This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by Ref
miRNA miRNA information provided by mirtarbase database.
1302
miRTarBase ID miRNA Experiments Reference
MIRT052354 hsa-let-7b-5p CLASH 23622248
MIRT051639 hsa-let-7e-5p CLASH 23622248
MIRT714388 hsa-miR-3529-3p HITS-CLIP 19536157
MIRT714387 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT714386 hsa-miR-3065-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0004741 Function [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity IBA
GO:0004741 Function [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity IDA 15855260
GO:0004741 Function [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615499 30263 ENSG00000172840
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2J9
Protein name [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial (PDP 2) (EC 3.1.3.43) (Pyruvate dehydrogenase phosphatase catalytic subunit 2) (PDPC 2)
Protein function Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA (By simil
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00481 PP2C 196 483 Protein phosphatase 2C Family
Sequence
MSSTVSYWILNSTRNSIATLQGGRRLYSRYVSNRNKLKWRLFSRVPPTLNSSPCGGFTLC
KAYRHTSTEEDDFHLQLSPEQINEVLRAGETTHKILDLESRVPNSVLRFESNQLAANSPV
EDRRGVASCLQTNGLMFGIFDGHGGHACAQAVSERLFYYVAVSLMSHQTLEHMEGAMESM
KPLLPILHWLKHPGDSIYKDVTSVHLDHLRVYWQELLDLHMEMGLSIEEALMYSFQRLDS
DISLEIQAPLEDEVTRNLSLQVAFSGATACMAHVDGIHLHVANAGDCRAILGVQEDNGMW
SCLPLTRDHNAWNQAELSRLKREHPESEDRTIIMEDRLLGVLIPCRAFGDVQLKWSKELQ
RSILERGFNTEALNIYQFTPPHYYTPPYLTAEPEVTYHRLRPQDKFLVLASDGLWDMLSN
EDVVRLVVGHLAEADWHKTDLAQRPANLGLMQSLLLQRKASGLHEADQNAATRLIRHAIG
NNE
YGEMEAERLAAMLTLPEDLARMYRDDITVTVVYFNSESIGAYYKGG
Sequence length 529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of pyruvate dehydrogenase (PDH) complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasm Metastasis Associate 29954422
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Associate 25630799
★☆☆☆☆
Found in Text Mining only