gene

SCAR20

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about SCAR20: 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

IQCA1 - SCAR20 - severe congenital autosomal recessive hearing loss syndrome - implicated in neurodevelopment, ribosomal biogenesis, and transcription regulation

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🧬 Gene Info

Gene Symbol	SCAR20
Full Name	IQCA1 (IQ Motif Containing A)
Aliases	IQCA1
Function	The discovery of SCAR20 as the causative gene for this syndrome provided important insights into the molecular pathways required for normal hearing development and cognitive function.
Subcellular Localization	Signals (NLS): Target the protein to the nucleus - Domain Architecture**: Th
Ensembl ID	ENSG00000165704
GeneCards	SCAR20
Human Protein Atlas	SCAR20
IQ Motifs	Calcium-independent calmodulin-binding motifs that mediate protein-protein interactions
Coiled-coil Regions	Involved in protein oligomerization and complex formation
Nuclear Localization Signals (NLS)	Target the protein to the nucleus
Domain Architecture	The N-terminal region contains the IQ motifs, while the C-terminal portion includes regions for nuclear targeting and protein interactions
Nucleus	Predominantly nuclear localization, particularly in the nucleolus
Nucleolus	Enriched in the nucleolus, suggesting a role in ribosome biogenesis
Cytoplasm	Lower levels in the cytoplasm, potentially representing a pool for nuclear import
Associated Diseases	neurodegeneration
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (4)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    SCAR20["SCAR20"]
    neurodegeneration["neurodegeneration"]
    SCAR20 -->|"implicated_in"| neurodegeneration
    style SCAR20 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

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Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

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Mentioning Analyses (0)

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Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
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Related Papers (0)

Scientific publications cited in analyses involving this entity

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Debates (0)

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