CAPRIN1 Chromosome 11
Cell cycle associated protein 1
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What This Gene Does
Enables several functions, including ATP binding activity; molecular condensate scaffold activity; and signaling adaptor activity. Involved in membraneless organelle assembly; positive regulation of stress granule assembly; and regulation of gene expression. Located in cell leading edge and cytosol. Is active in intracellular membraneless organelle. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (17)
Neurodegeneration
childhood-onset
with cerebellar ataxia and cognitive decline
Cerebellar ataxia
Moyamoya angiopathy
Focal-onset seizure
Moderate global developmental delay
Epileptic encephalopathy
Autistic behavior
Moderate intellectual disability
Seizure
Autism
Neurodevelopmental disorder with language impairment
autism
and attention deficit-hyperactivity disorder
CAPRIN1-related neurodevelopmental disorders
Juvenile myoclonic epilepsy
Key Variants
RS2496097769
Conflicting classifications of pathogenicity
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
Health Risk
RS1276785065
Likely pathogenic
Moyamoya angiopathy, Moyamoya angiopathy
Health Risk
RS1851273791
Likely pathogenic
Focal-onset seizure, Moderate global developmental delay, Epileptic encephalopathy
Health Risk
RS2496026698
Likely pathogenic
Autistic behavior, Moderate intellectual disability, Seizure
Health Risk
RS2496103618
Likely pathogenic
Health Risk
RS148571717
Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
Health Risk
RS2134131094
Pathogenic
CAPRIN1-related neurodevelopmental disorders, CAPRIN1-related neurodevelopmental disorders
Health Risk
RS2496067678
Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
Health Risk
RS2496067951
Pathogenic
Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
Health Risk
RS2496067959
Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
Health Risk
RS2496078103
Pathogenic
Health Risk
RS2496079413
Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2496097769 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline |
| RS1276785065 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS1851273791 | Health Risk | Likely pathogenic | Focal-onset seizure, Moderate global developmental delay, Epileptic encephalopathy |
| RS2496026698 | Health Risk | Likely pathogenic | Autistic behavior, Moderate intellectual disability, Seizure |
| RS2496103618 | Health Risk | Likely pathogenic | — |
| RS148571717 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder |
| RS2134131094 | Health Risk | Pathogenic | CAPRIN1-related neurodevelopmental disorders, CAPRIN1-related neurodevelopmental disorders |
| RS2496067678 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder |
| RS2496067951 | Health Risk | Pathogenic | Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy |
| RS2496067959 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder |
| RS2496078103 | Health Risk | Pathogenic | — |
| RS2496079413 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder |