FRMD5 Chromosome 15
FERM domain containing 5
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What This Gene Does
Enables integrin binding activity and protein kinase binding activity. Involved in negative regulation of cell motility; positive regulation of cell adhesion; and regulation of cell migration. Located in adherens junction. Implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
FERM domain containing
Locus Type
gene with protein product
Location
15q15.3
Ensembl
ENSG00000171877
Associated Conditions (2)
See cases
Neurodevelopmental disorder with eye movement abnormalities and ataxia
Key Variants
RS2140355061
Conflicting classifications of pathogenicity
See cases, Neurodevelopmental disorder with eye movement abnormalities and ataxia, See cases
Health Risk
RS2508377566
Likely pathogenic
Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia
Health Risk
RS2508377588
Pathogenic
Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia
Health Risk
RS751184580
Pathogenic
Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140355061 | Health Risk | Conflicting classifications of pathogenicity | See cases, Neurodevelopmental disorder with eye movement abnormalities and ataxia, See cases |
| RS2508377566 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia |
| RS2508377588 | Health Risk | Pathogenic | Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia |
| RS751184580 | Health Risk | Pathogenic | Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia |