EIF4A2 Chromosome 3
Eukaryotic translation initiation factor 4A2
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What This Gene Does
Enables ATP hydrolysis activity. Involved in negative regulation of RNA-dependent RNA polymerase activity. Located in perinuclear region of cytoplasm. Implicated in neurodevelopmental disorder with hypotonia and speech delay. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"DEAD-box helicases|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000156976
Associated Conditions (5)
Neurodevelopmental disorder with hypotonia and speech delay
with or without seizures
Neurodevelopmental disorder
Intellectual disability with muscular spams
Neurodevelopmental delay
Key Variants
RS112754953
Likely pathogenic
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, Neurodevelopmental disorder with hypotonia and speech delay
Health Risk
RS1171371205
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2108458548
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2473961744
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2473968343
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2473975415
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS764605841
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2473961852
Pathogenic
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, Neurodevelopmental disorder with hypotonia and speech delay
Health Risk
RS2473970931
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2473970934
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
Health Risk
RS2473983738
Pathogenic
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, Neurodevelopmental disorder with hypotonia and speech delay
Health Risk
RS2108458617
Pathogenic/Likely pathogenic
Intellectual disability with muscular spams, Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112754953 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, Neurodevelopmental disorder with hypotonia and speech delay |
| RS1171371205 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2108458548 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473961744 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473968343 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473975415 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS764605841 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473961852 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, Neurodevelopmental disorder with hypotonia and speech delay |
| RS2473970931 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2473970934 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |
| RS2473983738 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, Neurodevelopmental disorder with hypotonia and speech delay |
| RS2108458617 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability with muscular spams, Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |
| RS2108464046 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |
| RS2473976527 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures |