WBP11 Chromosome 12
WW domain binding protein 11
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What This Gene Does
This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Cilia and flagella associated|Spliceosomal B complex"
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000084463
Associated Conditions (7)
Inborn genetic diseases
Vertebral
cardiac
tracheoesophageal
renal
and limb defects
WBP11 spliceosomopathy
Key Variants
RS148994715
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370288866
Conflicting classifications of pathogenicity
Inborn genetic diseases, Vertebral, cardiac
Health Risk
RS1949868116
Likely pathogenic
WBP11 spliceosomopathy, Vertebral, cardiac
Health Risk
RS1949900423
Likely pathogenic
Vertebral, cardiac, tracheoesophageal
Health Risk
RS2137238267
Likely pathogenic
Vertebral, cardiac, tracheoesophageal
Health Risk
RS2498067242
Likely pathogenic
Vertebral, cardiac, tracheoesophageal
Health Risk
RS1949866551
Pathogenic
WBP11 spliceosomopathy, Vertebral, cardiac
Health Risk
RS1949874442
Pathogenic
WBP11 spliceosomopathy, WBP11 spliceosomopathy
Health Risk
RS2498037109
Pathogenic
Vertebral, cardiac, tracheoesophageal
Health Risk
RS767139774
Pathogenic
WBP11 spliceosomopathy, Vertebral, cardiac
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148994715 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370288866 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Vertebral, cardiac |
| RS1949868116 | Health Risk | Likely pathogenic | WBP11 spliceosomopathy, Vertebral, cardiac |
| RS1949900423 | Health Risk | Likely pathogenic | Vertebral, cardiac, tracheoesophageal |
| RS2137238267 | Health Risk | Likely pathogenic | Vertebral, cardiac, tracheoesophageal |
| RS2498067242 | Health Risk | Likely pathogenic | Vertebral, cardiac, tracheoesophageal |
| RS1949866551 | Health Risk | Pathogenic | WBP11 spliceosomopathy, Vertebral, cardiac |
| RS1949874442 | Health Risk | Pathogenic | WBP11 spliceosomopathy, WBP11 spliceosomopathy |
| RS2498037109 | Health Risk | Pathogenic | Vertebral, cardiac, tracheoesophageal |
| RS767139774 | Health Risk | Pathogenic | WBP11 spliceosomopathy, Vertebral, cardiac |