gene

KMT2D

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about KMT2D: 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.

115Connections
0Hypotheses
0Analyses
50Outgoing
40Incoming

Summary

KMT2D is a gene implicated in neurodegeneration research. Key relationships include: expressed in, associated with, interacts with. Associated with Als, Autoimmune, Cancer. Connected to 43 entities in the SciDEX knowledge graph.

View on Wiki →

🧬 Gene Info
Gene SymbolKMT2D
Full NameLysine Methyltransferase 2D
Protein TypeTransferase
FunctionKMT2D (also known as MLL4) is a histone H3K4 monomethyltransferase that functions as a transcriptional coactivator.
Primary Expressionthe brain and plays crucial roles in neurodevelopment and synaptic function
Pathwaysubiquitin-proteasome
Ensembl IDENSG00000167525
GeneCardsKMT2D
Human Protein AtlasKMT2D
H3K4 MethylationCatalyzes H3K4me1 at enhancer regions
Enhancer ActivationEssential for enhancer activation and super-enhancer function
Transcriptional RegulationActivates gene expression through chromatin modification
SET DomainCatalytic methyltransferase domain
PHD Finger DomainsChromatin reading for substrate recognition
FYR DomainsRegulatory domains
Associated DiseasesCarcinoma, Inflammation, Tumor
InteractionsBCL2, NSD2, NOTCH2, NFKBIE, CDKN2A, SMARCA4
KG Connections115 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Wiki Pages (11)

Knowledge base pages for this entity

Canonical Page

KMT2D — Lysine Methyltransferase 2D

gene · 902 words

Kabuki Syndrome

disease · 4834 words

DDX3X Gene

gene · 3778 words

KMT2C — Lysine Methyltransferase 2C

gene · 1394 words

Neurodevelopmental Disorders

disease · 1048 words

SHANK3 - SH3 and Multiple Ankyrin Repeat Domains 3

gene · 830 words

Pathway Diagram

graph TD
    KMT2D["<b>KMT2D</b>"]
    Leukemia{"Leukemia"}
    KMT2D -->|"therapeutic target"| Leukemia
    Autoimmune{"Autoimmune"}
    KMT2D -->|"therapeutic target"| Autoimmune
    Lymphoma{"Lymphoma"}
    KMT2D -->|"expressed in"| Lymphoma
    Als{"Als"}
    KMT2D -->|"expressed in"| Als
    Cancer{"Cancer"}
    KMT2D -->|"expressed in"| Cancer
    Tumor{"Tumor"}
    KMT2D -->|"expressed in"| Tumor
    Jak_Stat(["Jak-Stat"])
    KMT2D -->|"therapeutic target"| Jak_Stat
    NF__B["NF-KappaB"]
    KMT2D -->|"expressed in"| NF__B
    STAT3["STAT3"]
    KMT2D -->|"expressed in"| STAT3
    DDX3X["DDX3X"]
    KMT2D -->|"expressed in"| DDX3X
    APOPTOSIS["APOPTOSIS"]
    KMT2D -->|"expressed in"| APOPTOSIS
    RB1["RB1"]
    KMT2D -->|"expressed in"| RB1
    TET2["TET2"]
    TET2 -->|"associated with"| KMT2D
    STAT3 -->|"therapeutic target"| KMT2D
    GAIN["GAIN"]
    GAIN -->|"therapeutic target"| KMT2D
    CDKN2A["CDKN2A"]
    CDKN2A -->|"expressed in"| KMT2D
    TP53["TP53"]
    TP53 -->|"expressed in"| KMT2D
    TET2 -->|"expressed in"| KMT2D
    MYD88["MYD88"]
    MYD88 -->|"expressed in"| KMT2D
    style KMT2D fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (75)

TargetRelationTypeStr
Leukemiatherapeutic_targetdisease0.65
Autoimmunetherapeutic_targetdisease0.65
Lymphomaexpressed_indisease0.65
Alsexpressed_indisease0.65
Cancerexpressed_indisease0.65

Incoming (40)

SourceRelationTypeStr
TET2associated_withgene0.60
STAT3therapeutic_targetgene0.60
GAINtherapeutic_targetgene0.60
CDKN2Aexpressed_ingene0.60
TP53expressed_ingene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
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 & PMIDAuthorsJournalYearCitations
No papers found