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Gene Gene information from NCBI Gene database.
Entrez ID 192111
Gene name PGAM family member 5, mitochondrial serine/threonine protein phosphatase
Gene symbol PGAM5
Synonyms (NCBI Gene)
BXLBV68
Chromosome 12
Chromosome location 12q24.33
miRNA miRNA information provided by mirtarbase database.
1465 Show/Hide all (1465)
miRTarBase ID miRNA Experiments Reference
MIRT622827 hsa-miR-890 HITS-CLIP 23313552
MIRT622826 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT622825 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT622824 hsa-miR-940 HITS-CLIP 23313552
MIRT271042 hsa-miR-3929 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 19590015
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity TAS
GO:0005515 Function Protein binding IPI 19590015
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614939 28763 ENSG00000247077
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HS1
Protein name Serine/threonine-protein phosphatase PGAM5, mitochondrial (EC 3.1.3.16) (Bcl-XL-binding protein v68) (Phosphoglycerate mutase family member 5)
Protein function Mitochondrial serine/threonine phosphatase that dephosphorylates various substrates and thus plays a role in different biological processes including cellular senescence or mitophagy (PubMed:24746696, PubMed:32439975). Modulates cellular senesce
PDB 3MXO , 3O0T , 5MUF , 6CNI , 6CNL , 7QAL , 7QAM , 7QAO , 7QAP , 8IN0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00300 His_Phos_1 100 → 278 Histidine phosphatase superfamily (branch 1) Domain
Sequence
Sequence length 289
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Mitophagy - animal Receptor Mediated Mitophagy
Necroptosis  
TNF signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (23)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 27566130
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29407174
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchiolitis Bronchiolitis BEFREE 29255269
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35855852, 36157211, 36292980 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 38058078 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 30526542
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29053012
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 31168659
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 37628668 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30250224
★★★★★
★☆☆☆☆
Found in Text Mining only