gene 2,029 words KG: PMS2
Contents

PMS2 — DNA Mismatch Repair Protein PMS2

🧬 Gene Info
Gene SymbolPMS2
Full NameDNA Mismatch Repair Protein PMS2
Chromosome7p22.1
FunctionThe complex coordinates all downstream mismatch repair activities
Molecular Weight96 kDa
Amino Acids862 aa
Exons15
PathwaysDna Methylation, Epigenetic, oxidative stress response
UniProt ID[P54278](https://www.uniprot.org/uniprot/P54278)
Ensembl IDENSG00000122512
GeneCardsPMS2
Human Protein AtlasPMS2
StructureThe PMS2-MLH1 complex forms the core of the MutLα heterodimer
Stoichiometry1:1 ratio of PMS2 to MLH1
StabilityComplex formation is required for stability of both proteins
Associated DiseasesAls, Cancer, Colorectal Cancer, Gastric Cancer, Huntington, Ms
InteractionsAPC, ARID1A, CACNA1G, CANCER, CDKN2A, DNA
KG Connections80 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Related Hypotheses (3)

Heat Shock Protein 70 Disaggregase Amplification
Score: 0.62
Serine/Arginine-Rich Protein Kinase Modulation
Score: 0.62
Lysosomal Membrane Repair Enhancement
Score: 0.54

Related Analyses (6)

TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · completed
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · completed
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived

Related Experiments (1)

Macroautophagy Dysfunction in PD - Experiment Design
clinical · proposed · Score: 0.40

See Also (14)

Apoptosis in Neurodegeneration
entity · KG edge: associated_with
DNA Methylation
entity · KG edge: activates
DNA Damage Repair Deficiency Validation Study in Parkin
experiment · KG edge: activates
Epigenetic Clocks in Neurodegeneration — Causal Drivers
experiment · KG edge: activates
Genes
index · KG edge: causes

Knowledge Graph (12 edges)

MSH3 associated_with PMS2
FAN1 associated_with PMS2
HTT associated_with PMS2
BAX associated_with PMS2
BRAF associated_with PMS2
TGFBR2 associated_with PMS2
ARID1A associated_with PMS2
ACVR2A associated_with PMS2
MRE11 associated_with PMS2
MSH2 causes PMS2

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