gene

COL4A2

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about COL4A2: 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.

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Summary

COL4A2 Gene

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🧬 Gene Info

Gene Symbol	COL4A2
Function	COL4A2 encodes the alpha-2 chain of type IV collagen, a major structural component of basement membranes throughout the body.
Ensembl ID	ENSG00000134871
GeneCards	COL4A2
Human Protein Atlas	COL4A2
Basement membrane integrity	The α1α1α2(IV) protomer (two COL4A1 chains + one COL4A2 chain) is the predominant collagen IV isoform in cerebrovascular basement membranes, providing structural integrity to blood vessels
Blood-brain barrier (BBB) maintenance	Collagen IV in the vascular basement membrane provides the structural scaffold for the BBB, supporting endothelial cells, pericytes, and astrocyte endfeet
Angiogenesis and vascular development	Required for proper cerebrovascular development; interacts with integrins and growth factor receptors on endothelial cells
Cell signaling scaffold	Collagen IV binds and presents growth factors (VEGF, PDGF, FGF) to cell surface receptors, modulating signaling
Neurovascular unit support	Maintains the structural relationship between neurons, glia, and blood vessels essential for neurovascular coupling and cerebral autoregulation
Clinical spectrum	Ranges from severe neonatal porencephaly to adult-onset lacunar strokes and leukoaraiencephalopathy
Vascular pathology	Thickened, irregular basement membranes; fibrinoid necrosis; small vessel occlusion; microaneurysm formation
Overlap with [COL4A1](/genes/col4a1)	Since COL4A1 and COL4A2 form obligate heterotrimers, mutations in either gene cause overlapping phenotypes
Pathogenesis	Basement membrane fragility leads to cerebrovascular rupture during fetal development or the perinatal period
Features	Fluid-filled cystic cavities in the brain parenchyma communicating with the ventricular system
Associated Diseases	neurodegeneration
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

COL4A2 Gene

gene · 1383 words

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Pathway Diagram

graph TD
    COL4A2["COL4A2"]
    neurodegeneration["neurodegeneration"]
    COL4A2 -->|"implicated_in"| neurodegeneration
    style COL4A2 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

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Targeting Hypotheses (0)

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Mentioning Analyses (0)

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Experiments (0)

Experimental studies targeting or related to this entity

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Related Papers (0)

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Debates (0)

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Related Research

Hypotheses and analyses mentioning COL4A2 in their description or question text

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