SNRPB Chromosome 20
Small nuclear ribonucleoprotein polypeptides B and B1
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What This Gene Does
The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Sm spliceosomal proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000125835
Associated Conditions (5)
Inborn genetic diseases
Isolated Pierre-Robin syndrome
Intellectual disability
Cerebro-costo-mandibular syndrome
SNRPB-related disorder
Key Variants
RS558249175
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2085044676
Likely pathogenic
Isolated Pierre-Robin syndrome, Intellectual disability, Isolated Pierre-Robin syndrome
Health Risk
RS2514419360
Likely pathogenic
Health Risk
RS2514423027
Likely pathogenic
Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
Health Risk
RS759561105
Likely pathogenic
Health Risk
RS786201020
Pathogenic
Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
Health Risk
RS786201021
Pathogenic
Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
Health Risk
RS786201022
Pathogenic
Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
Health Risk
RS786201019
Pathogenic/Likely pathogenic
Cerebro-costo-mandibular syndrome, SNRPB-related disorder, Cerebro-costo-mandibular syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS558249175 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2085044676 | Health Risk | Likely pathogenic | Isolated Pierre-Robin syndrome, Intellectual disability, Isolated Pierre-Robin syndrome |
| RS2514419360 | Health Risk | Likely pathogenic | — |
| RS2514423027 | Health Risk | Likely pathogenic | Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome |
| RS759561105 | Health Risk | Likely pathogenic | — |
| RS786201020 | Health Risk | Pathogenic | Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome |
| RS786201021 | Health Risk | Pathogenic | Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome |
| RS786201022 | Health Risk | Pathogenic | Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome |
| RS786201019 | Health Risk | Pathogenic/Likely pathogenic | Cerebro-costo-mandibular syndrome, SNRPB-related disorder, Cerebro-costo-mandibular syndrome |