UBAP2L Chromosome 1
Ubiquitin associated protein 2 like
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What This Gene Does
Enables RNA binding activity. Involved in binding activity of sperm to zona pellucida; positive regulation of stress granule assembly; and stress granule assembly. Acts upstream of or within hematopoietic stem cell homeostasis. Part of PcG protein complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143569
Associated Conditions (4)
Global developmental delay
Neurodevelopmental disorder with impaired language
behavioral abnormalities
and dysmorphic facies
Key Variants
RS763832290
Conflicting classifications of pathogenicity
Global developmental delay, Neurodevelopmental disorder with impaired language, behavioral abnormalities
Health Risk
RS1683280621
Pathogenic
Health Risk
RS2524793782
Pathogenic
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Health Risk
RS2526619291
Pathogenic
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Health Risk
RS2527246387
Pathogenic
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Health Risk
RS2527247243
Pathogenic
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Health Risk
RS2528067118
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763832290 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Neurodevelopmental disorder with impaired language, behavioral abnormalities |
| RS1683280621 | Health Risk | Pathogenic | — |
| RS2524793782 | Health Risk | Pathogenic | Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies |
| RS2526619291 | Health Risk | Pathogenic | Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies |
| RS2527246387 | Health Risk | Pathogenic | Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies |
| RS2527247243 | Health Risk | Pathogenic | Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies |
| RS2528067118 | Health Risk | Pathogenic | — |