Entity Detail — Knowledge Graph Node
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.
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.
| Gene Symbol | KMT2D |
| Full Name | Lysine Methyltransferase 2D |
| Protein Type | Transferase |
| Function | KMT2D (also known as MLL4) is a histone H3K4 monomethyltransferase that functions as a transcriptional coactivator. |
| Primary Expression | the brain and plays crucial roles in neurodevelopment and synaptic function |
| Pathways | ubiquitin-proteasome |
| Ensembl ID | ENSG00000167525 |
| GeneCards | KMT2D |
| Human Protein Atlas | KMT2D |
| H3K4 Methylation | Catalyzes H3K4me1 at enhancer regions |
| Enhancer Activation | Essential for enhancer activation and super-enhancer function |
| Transcriptional Regulation | Activates gene expression through chromatin modification |
| SET Domain | Catalytic methyltransferase domain |
| PHD Finger Domains | Chromatin reading for substrate recognition |
| FYR Domains | Regulatory domains |
| Associated Diseases | Carcinoma, Inflammation, Tumor |
| Interactions | BCL2, NSD2, NOTCH2, NFKBIE, CDKN2A, SMARCA4 |
| KG Connections | 115 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
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| Target | Relation | Type | Str |
|---|---|---|---|
| Leukemia | therapeutic_target | disease | 0.65 |
| Autoimmune | therapeutic_target | disease | 0.65 |
| Lymphoma | expressed_in | disease | 0.65 |
| Als | expressed_in | disease | 0.65 |
| Cancer | expressed_in | disease | 0.65 |
| Tumor | expressed_in | disease | 0.65 |
| Lymphoma | interacts_with | disease | 0.65 |
| Tumor | associated_with | disease | 0.65 |
| Carcinoma | associated_with | disease | 0.65 |
| Inflammation | associated_with | disease | 0.65 |
| Aging | therapeutic_target | disease | 0.65 |
| Als | therapeutic_target | disease | 0.65 |
| Lymphoma | therapeutic_target | disease | 0.65 |
| Rheumatoid Arthritis | therapeutic_target | disease | 0.65 |
| Carcinoma | therapeutic_target | disease | 0.65 |
| Cancer | therapeutic_target | disease | 0.65 |
| Carcinoma | activates | disease | 0.65 |
| Cancer | activates | disease | 0.65 |
| Schizophrenia | inhibits | disease | 0.65 |
| Autism | inhibits | disease | 0.65 |
| STAT3 | expressed_in | gene | 0.60 |
| DDX3X | expressed_in | gene | 0.60 |
| RB1 | expressed_in | gene | 0.60 |
| GNA13 | expressed_in | gene | 0.60 |
| REL | expressed_in | gene | 0.60 |
| PRDM1 | expressed_in | gene | 0.60 |
| STK11 | expressed_in | gene | 0.60 |
| PTEN | expressed_in | gene | 0.60 |
| KMT2C | expressed_in | gene | 0.60 |
| BCL2 | interacts_with | gene | 0.60 |
| C1QB | associated_with | gene | 0.60 |
| NSD2 | interacts_with | gene | 0.60 |
| NOTCH2 | interacts_with | gene | 0.60 |
| NFKBIE | interacts_with | gene | 0.60 |
| CDKN2A | interacts_with | gene | 0.60 |
| SMARCA4 | interacts_with | gene | 0.60 |
| TET2 | associated_with | gene | 0.60 |
| GAIN | therapeutic_target | gene | 0.60 |
| STAT3 | therapeutic_target | gene | 0.60 |
| RB1 | therapeutic_target | gene | 0.60 |
| PIK3CA | therapeutic_target | gene | 0.60 |
| KDM6A | associated_with | gene | 0.60 |
| FGFR3 | therapeutic_target | gene | 0.60 |
| RB1 | activates | gene | 0.60 |
| PIK3CA | activates | gene | 0.60 |
| FGFR3 | activates | gene | 0.60 |
| CACNA1G | inhibits | gene | 0.60 |
| KMT2A | inhibits | gene | 0.60 |
| KMT2B | inhibits | gene | 0.60 |
| GAIN | expressed_in | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| TET2 | associated_with | gene | 0.60 |
| STAT3 | therapeutic_target | gene | 0.60 |
| GAIN | therapeutic_target | gene | 0.60 |
| CDKN2A | expressed_in | gene | 0.60 |
| TP53 | expressed_in | gene | 0.60 |
| TET2 | expressed_in | gene | 0.60 |
| MYD88 | expressed_in | gene | 0.60 |
| CREBBP | interacts_with | gene | 0.60 |
| APOE | associated_with | gene | 0.60 |
| CD19 | therapeutic_target | gene | 0.60 |
| TP53 | interacts_with | gene | 0.60 |
| SOX11 | therapeutic_target | gene | 0.60 |
| MYC | therapeutic_target | gene | 0.60 |
| TP53 | therapeutic_target | gene | 0.60 |
| TP53 | activates | gene | 0.60 |
| OVERVIEW | activates | gene | 0.60 |
| SETD1A | inhibits | gene | 0.60 |
| GAIN | expressed_in | gene | 0.60 |
| KMT2B | inhibits | gene | 0.60 |
| SHANK3 | inhibits | gene | 0.60 |
| KMT2A | inhibits | gene | 0.60 |
| CACNA1G | inhibits | gene | 0.60 |
| EZH2 | activates | gene | 0.60 |
| KDM6A | activates | gene | 0.60 |
| ACSL4 | associated_with | gene | 0.60 |
| GRIN1 | associated_with | gene | 0.60 |
| HCN1 | associated_with | gene | 0.60 |
| CREB | interacts_with | gene | 0.60 |
| INFLAMMATION | associated_with | gene | 0.60 |
| AND | interacts_with | gene | 0.60 |
| JAK | therapeutic_target | gene | 0.60 |
| CYTOKINES | therapeutic_target | gene | 0.60 |
| AND | associated_with | gene | 0.60 |
| ANK3 | inhibits | gene | 0.60 |
| RNA | expressed_in | gene | 0.60 |
| GENES | inhibits | gene | 0.60 |
| AND | inhibits | gene | 0.60 |
| AUTISM | inhibits | disease | 0.50 |
| SCHIZOPHRENIA | inhibits | disease | 0.50 |
| KDM6A | associated_with | gene | 0.35 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||