CASTOR2

Chr 7

cytosolic arginine sensor for mTORC1 subunit 2

Also known as: GATSL1, GATSL2

NCBI Gene: 729438ENSG00000274070UniProt: A6NHX0

Enables identical protein binding activity. Involved in negative regulation of TORC1 signaling. Located in GATOR2 complex and cytosol. [provided by Alliance of Genome Resources, Jul 2025]

34
ClinVar variants
29
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CASTOR2
📋
ClinVar Variants
29 Pathogenic / Likely Pathogenic· 4 VUS of 34 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

34 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic2
VUS4
Likely Benign1
27
Pathogenic
2
Likely Pathogenic
4
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————27
Likely Pathogenic
————2
VUS
————4
Likely Benign
————1
Benign
————0
Total—34

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CASTOR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools