Gene Gene information from NCBI Gene database.
Entrez ID 5494
Gene name Protein phosphatase, Mg2+/Mn2+ dependent 1A
Gene symbol PPM1A
Synonyms (NCBI Gene)
PP2C-ALPHAPP2CAPP2Calpha
Chromosome 14
Chromosome location 14q23.1
Summary The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the acti
miRNA miRNA information provided by mirtarbase database.
788
miRTarBase ID miRNA Experiments Reference
MIRT000990 hsa-miR-377-3p Luciferase reporter assayWestern blot 18716028
MIRT026486 hsa-miR-192-5p Microarray 19074876
MIRT048669 hsa-miR-99a-5p CLASH 23622248
MIRT046263 hsa-miR-23b-3p CLASH 23622248
MIRT041899 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0000287 Function Magnesium ion binding IEA
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 10644691, 11559703, 20801214
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606108 9275 ENSG00000100614
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35813
Protein name Protein phosphatase 1A (EC 3.1.3.16) (Protein phosphatase 2C isoform alpha) (PP2C-alpha) (Protein phosphatase IA)
Protein function Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Depho
PDB 1A6Q , 3FXJ , 3FXK , 3FXL , 3FXM , 3FXO , 4RA2 , 4RAF , 4RAG , 6B67
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00481 PP2C 22 284 Protein phosphatase 2C Family
PF07830 PP2C_C 285 363 Protein serine/threonine phosphatase 2C, C-terminal domain Domain
Sequence
Sequence length 382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway   Downregulation of SMAD2/3:SMAD4 transcriptional activity
Energy dependent regulation of mTOR by LKB1-AMPK
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 28601657
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31984950 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 31762216
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27195906
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 31791585
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 34154607 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 25026293
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 17941990 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 17729405, 27121309 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28283039 Inhibit
★☆☆☆☆
Found in Text Mining only