MCTP2 Chromosome 15

Multiple C2 and transmembrane domain containing 2
1 variant 1 Health Risk

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What This Gene Does
Enables calcium ion binding activity. Predicted to be involved in regulation of neurotransmitter secretion. Located in cytosol; membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Multiple C2 and transmembrane domain containing
Locus Type
gene with protein product
Location
15q26.2
Ensembl
ENSG00000140563
Associated Conditions (2)
Inborn genetic diseases
MCTP2-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS199933047 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MCTP2-related disorder, Inborn genetic diseases
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