gene

CACNA2D4

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about CACNA2D4: 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.

2Connections

0Hypotheses

0Analyses

2Outgoing

0Incoming

0Experiments

0Debates

Summary

CACNA2D4 encodes the alpha2delta-4 subunit of voltage-gated calcium channels. Mutations cause retinal degeneration (retinitis pigmentosa, cone-rod dystrophy) and are associated with autism spectrum disorder. Expressed primarily in retina and certain brain regions.

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🧬 Gene Info

Gene Symbol	CACNA2D4
Full Name	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4
Aliases	retinitis pigmentosa, cone-rod dystrophy
Chromosome	12p13.33
Primary Expression	Primarily localized to the plasma membrane
Subcellular Localization	Primarily localized to the plasma membrane
Amino Acids	2024 aa
Exons	38
UniProt ID	Q7Z3Y7
NCBI Gene ID	93589
Ensembl ID	ENSG00000151092
OMIM	608898
GeneCards	CACNA2D4
Human Protein Atlas	CACNA2D4
Alpha2 fragment (residues 1-1470)	Large extracellular domain containing multiple conserved domains
Associated Diseases	neurodegeneration
Interactions	CAV1
KG Connections	2 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: CACNA2D4 — AlphaFold Q7Z3Y7 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

CACNA2D4 Gene

gene · 1219 words

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Pathway Diagram

graph TD
    CACNA2D4["CACNA2D4"]
    Ms["Ms"]
    CAV1["CAV1"]
    neurodegeneration["neurodegeneration"]

    CACNA2D4 -->|"contributes to"| Ms
    CACNA2D4 -->|"inhibits"| CAV1
    CACNA2D4 -->|"implicated in"| neurodegeneration

    style CACNA2D4 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#fff
    style Ms fill:#3e1a1a,stroke:#ef5350,stroke-width:2px,color:#fff
    style CAV1 fill:#1a237e,stroke:#ce93d8,stroke-width:2px,color:#fff
    style neurodegeneration fill:#1a1a2e,stroke:#888,stroke-width:2px,color:#fff

Outgoing (2)

Target	Relation	Type	Str
Ms	contributes_to	disease	0.65
CAV1	inhibits	gene	0.60

Incoming (0)

Source	Relation	Type	Str
No incoming edges

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

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning CACNA2D4 in their description or question text

No additional research found