gene 2,029 words KG: PMS2 2026-03-27
kind:genesection:genesstate:publishedtopic:pms2topic:mismatch-repairtopic:dna-repairtopic:genomic-stabilitytopic:lynch-syndrometopic:alzheimerstopic:parkinsonstopic:cancer
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
InteractionsCACNA1G, ARID1A, CDKN2A, NEUROG1, APC, Rb
KG Connections81 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (3)

Heat Shock Protein 70 Disaggregase Amplification
Score: 0.51
Lysosomal Membrane Repair Enhancement
Score: 0.45
Serine/Arginine-Rich Protein Kinase Modulation
Score: 0.42

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 · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (1)

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

See Also (14)

Packard Center for ALS Research
institution · KG edge: associated_with
FAN1 Gene
gene · KG edge: associated_with
cdkn2a
gene · KG edge: activates
CACNA1G Gene
gene · KG edge: activates
BRAF — B-Raf Proto-Oncogene, Serine/Threonine Kinase
gene · KG edge: associated_with

Knowledge Graph (12 edges)

PMS2 activates CACNA1G
PMS2 activates ARID1A
PMS2 activates CDKN2A
PMS2 activates NEUROG1
PMS2 associated_with MLH1
PMS2 encodes NEUROG1
PMS2 encodes TP53
PMS2 activates APC
PMS2 activates Rb
PMS2 associated_with Huntington