gene

GJB1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

8Connections
0Hypotheses
0Analyses
6Outgoing
2Incoming

Summary

GJB1 — Gap Junction Protein Beta 1

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🧬 Gene Info
Gene SymbolGJB1
Full NameGap Junction Protein Beta 1
ChromosomeXq13.1
FunctionThe GJB1 gene encodes Connexin 32, a gap junction protein critical for communication between Schwann cells in the peripheral nervous system.
Primary ExpressionPeripheral nervous system, Schwann cells, Nodes of Ranvier
UniProt IDP29508
NCBI Gene ID2700
Ensembl IDENSG00000187048
OMIM304040
GeneCardsGJB1
Human Protein AtlasGJB1
Symbol [@omim] GJB1 [@uniprot] Full NameGap Junction Protein Beta 1 (Connexin 32)
Associated DiseasesCharcot-Marie-Tooth Disease
KG Connections8 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: GJB1 — AlphaFold P29508 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (18)

Knowledge base pages for this entity

Canonical Page

GJB1 — Gap Junction Protein Beta 1

gene · 740 words

Schwann Cells in Peripheral Neuropathy

cell · 3166 words

Charcot-Marie-Tooth Disease

disease · 2858 words

Schwann Cells

cell · 2252 words

Schwann Cells (Peripheral Nervous System)

cell · 1458 words

Schwann Cell Precursors

cell · 1321 words

Pathway Diagram

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 disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
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    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

Outgoing (6)

TargetRelationTypeStr
Charcot-Marie-Tooth Diseasecausesdisease0.90
Schwann Cell Biologyinvolved_inprocess0.80
MFN2causesgene0.60
MPZcausesgene0.60
PMP22causesgene0.60

Incoming (2)

SourceRelationTypeStr
CX32causesgene0.60
EGR2causesgene0.60

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