gene

PMS2

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about PMS2: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

81Connections

0Hypotheses

0Analyses

37Outgoing

44Incoming

Summary

PMS2: DNA mismatch repair protein with critical roles in maintaining genomic stability, with implications for Alzheimer's disease, Parkinson's disease, and cancer

View on Wiki →

🧬 Gene Info

Gene Symbol	PMS2
Full Name	DNA Mismatch Repair Protein PMS2
Chromosome	7p22.1
Function	The complex coordinates all downstream mismatch repair activities
Molecular Weight	96 kDa
Amino Acids	862 aa
Exons	15
Pathways	Dna Methylation, Epigenetic, oxidative stress response
UniProt ID	[P54278](https://www.uniprot.org/uniprot/P54278)
Ensembl ID	ENSG00000122512
GeneCards	PMS2
Human Protein Atlas	PMS2
Structure	The PMS2-MLH1 complex forms the core of the MutLα heterodimer
Stoichiometry	1:1 ratio of PMS2 to MLH1
Stability	Complex formation is required for stability of both proteins
Associated Diseases	Als, Cancer, Colorectal Cancer, Gastric Cancer, Huntington, Ms
Interactions	CACNA1G, ARID1A, CDKN2A, NEUROG1, APC, Rb
KG Connections	81 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    PMS2["<b>PMS2</b>"]
    Huntington{"Huntington"}
    PMS2 -->|"associated with"| Huntington
    Als{"Als"}
    PMS2 -->|"associated with"| Als
    Ms{"Ms"}
    PMS2 -->|"associated with"| Ms
    neurodegeneration["neurodegeneration"]
    PMS2 -->|"implicated in"| neurodegeneration
    MSH3["MSH3"]
    MSH3 -->|"associated with"| PMS2
    FAN1["FAN1"]
    FAN1 -->|"associated with"| PMS2
    DNA["DNA"]
    DNA -->|"associated with"| PMS2
    HTT["HTT"]
    HTT -->|"associated with"| PMS2
    GENETIC_MODIFIERS["GENETIC MODIFIERS"]
    GENETIC_MODIFIERS -->|"associated with"| PMS2
    HUNTINGTON["HUNTINGTON"]
    HUNTINGTON -->|"associated with"| PMS2
    AND["AND"]
    AND -->|"associated with"| PMS2
    style PMS2 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (37)

Target	Relation	Type	Str
Als	associated_with	disease	0.75
Huntington	associated_with	disease	0.65
Ms	associated_with	disease	0.65
Colorectal Cancer	associated_with	disease	0.65
Cancer	associated_with	disease	0.65
Gastric Cancer	associated_with	disease	0.65
Cancer	activates	disease	0.65
Aging	activates	disease	0.65
Tumor	activates	disease	0.65
Aging	encodes	disease	0.65
Cancer	encodes	disease	0.65
CACNA1G	activates	gene	0.60
ARID1A	activates	gene	0.60
CDKN2A	activates	gene	0.60
NEUROG1	activates	gene	0.60
MLH1	associated_with	gene	0.60
NEUROG1	encodes	gene	0.60
TP53	encodes	gene	0.60
APC	activates	gene	0.60
Rb	activates	protein	0.60
Dna Repair	associated_with	pathway	0.60
Apoptosis	associated_with	pathway	0.60
Microrna	associated_with	pathway	0.60
Mismatch Repair	associated_with	pathway	0.60
Epigenetic	associated_with	pathway	0.60
Dna Methylation	activates	pathway	0.60
Epigenetic	activates	pathway	0.60
CANCER	activates	gene	0.60
AND	associated_with	gene	0.60
KRAS	activates	gene	0.60
Dna Methylation	encodes	pathway	0.60
Epigenetic	encodes	pathway	0.60
P53	encodes	protein	0.60
DNA	activates	gene	0.60
P53	activates	protein	0.60
Ras	activates	protein	0.60
oxidative stress response	participates_in	pathway	0.60

Incoming (44)

Source	Relation	Type	Str
MSH3	associated_with	gene	0.70
DNA	associated_with	gene	0.70
FAN1	associated_with	gene	0.60
HTT	associated_with	gene	0.60
BAX	associated_with	gene	0.60
BRAF	associated_with	gene	0.60
TGFBR2	associated_with	gene	0.60
ARID1A	associated_with	gene	0.60
ACVR2A	associated_with	gene	0.60
MRE11	associated_with	gene	0.60
MSH2	causes	gene	0.60
MLH1	causes	gene	0.60
MSH6	causes	gene	0.60
HDAC2	associated_with	gene	0.60
CDKN2A	activates	gene	0.60
ARID1A	activates	gene	0.60
NEUROG1	activates	gene	0.60
TP53	activates	gene	0.60
APC	activates	gene	0.60
MLH1	associated_with	gene	0.60
CDKN2A	encodes	gene	0.60
ARID1A	encodes	gene	0.60
APC	encodes	gene	0.60
CACNA1G	encodes	gene	0.60
CACNA1G	activates	gene	0.60
LIG1	interacts_with	gene	0.60
MLH1	interacts_with	gene	0.60
MSH2	interacts_with	gene	0.60
MSH3	interacts_with	gene	0.60
MSH6	interacts_with	gene	0.60
MSH2	associated_with	gene	0.60
FAN1	activates	gene	0.60
HTT	activates	gene	0.60
MSH3	activates	gene	0.60
MSH6	associated_with	gene	0.60
GENETIC MODIFIERS	associated_with	gene	0.60
HUNTINGTON	associated_with	gene	0.60
APOPTOSIS	associated_with	gene	0.60
CANCER	associated_with	gene	0.60
GENES	causes	gene	0.60
DNA	activates	gene	0.60
KRAS	activates	gene	0.60
KRAS	encodes	gene	0.60
DNA	encodes	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

PMS2

Understanding Entity Pages

Summary

Wiki Pages (21)

PMS2 — DNA Mismatch Repair Protein PMS2

Huntington's Disease

Huntingtin Protein (HTT)

Trinucleotide Repeat Expansion Disorders

Huntington's Disease Somatic CAG Expansion and DNA Repair

POLD1

POLD4 Protein

Striatal Medium Spiny Neurons in Huntington's Disease

MAPK10 Gene

DNA Damage and Repair Dysfunction in PSP

NEUROG1 (Neurogenin-1)

DNA Damage Response in Neurodegeneration

DNA Repair Mechanisms in Neurodegeneration

DNA Damage-Accumulating Neurons in Neurodegeneration

MSH2 — MutS Homolog 2

MSH6 — MutS Homolog 6

DNA Damage Response and Repair in Neurodegeneration

MSH2 Protein - MutS Homolog 2

FAN1 Gene