Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about GJB1: 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.
| Gene Symbol | GJB1 |
| Full Name | Gap Junction Protein Beta 1 |
| Chromosome | Xq13.1 |
| Function | The GJB1 gene encodes Connexin 32, a gap junction protein critical for communication between Schwann cells in the peripheral nervous system. |
| Primary Expression | Peripheral nervous system, Schwann cells, Nodes of Ranvier |
| UniProt ID | P29508 |
| NCBI Gene ID | 2700 |
| Ensembl ID | ENSG00000187048 |
| OMIM | 304040 |
| GeneCards | GJB1 |
| Human Protein Atlas | GJB1 |
| Symbol [@omim] GJB1 [@uniprot] Full Name | Gap Junction Protein Beta 1 (Connexin 32) |
| Associated Diseases | Charcot-Marie-Tooth Disease |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
flowchart TD
N0["GJB1"]
N1["CX32"]
N1 -->|"causes"| N0
N2["EGR2"]
N2 -->|"causes"| N0
N3["Charcot-Marie-Tooth Disease"]
N0 -->|"causes"| N3
N4["Schwann Cell Biology"]
N0 -->|"involved in"| N4
N5["MFN2"]
N0 -->|"causes"| N5
N6["MPZ"]
N0 -->|"causes"| N6
N7["PMP22"]
N0 -->|"causes"| N7
N8["TTR"]
N0 -->|"causes"| N8
N9["neurodegeneration"]
N0 -->|"implicated in"| N9
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classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
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classDef therapeutic fill:#1a2a2a,stroke:#26c6da,color:#e0e0e0
classDef index fill:#1a1a2a,stroke:#7986cb,color:#e0e0e0
class N0 gene
class N1 gene
class N2 gene
class N3 disease
class N4 process
class N5 gene
class N6 gene
class N7 gene
class N8 gene| Target | Relation | Type | Str |
|---|---|---|---|
| Charcot-Marie-Tooth Disease | causes | disease | 0.90 |
| Schwann Cell Biology | involved_in | process | 0.80 |
| MFN2 | causes | gene | 0.60 |
| MPZ | causes | gene | 0.60 |
| PMP22 | causes | gene | 0.60 |
| TTR | causes | gene | 0.60 |
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 | ||||