WBP4 Chromosome 13
WW domain binding protein 4
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What This Gene Does
This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers matrin-type|Spliceosomal B complex"
Locus Type
gene with protein product
Location
13q14.11
Ensembl
ENSG00000120688
Associated Conditions (5)
Neurodevelopmental disorder
Neurodevelopmental disorder with hypotonia
feeding difficulties
facial dysmorphism
and brain abnormalities
Key Variants
RS1355288041
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1427720732
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2541859093
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2541856897
Pathogenic/Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia, feeding difficulties
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1355288041 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1427720732 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2541859093 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2541856897 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia, feeding difficulties |