CSNK2B Chromosome 6
Casein kinase 2 beta
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What This Gene Does
This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Associated Conditions (17)
Poirier-Bienvenu neurodevelopmental syndrome
Inborn genetic diseases
Intellectual disability
Seizure
Developmental delay
Autism spectrum disorder
Autosomal dominant non-syndromic intellectual disability
Melanoma
CSNK2B-related disorder
Intellectual disability and seizures
12 conditions
Intellectual disability-craniodigital syndrome
CSNK2B-related intellectual disability with or without epilepsy
Neurodevelopmental disorder
Medulloblastoma WNT activated
See cases
Nonpapillary renal cell carcinoma
Key Variants
RS1583608433
Conflicting classifications of pathogenicity
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS2151188873
Conflicting classifications of pathogenicity
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS2151188947
Conflicting classifications of pathogenicity
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS2536966124
Conflicting classifications of pathogenicity
Poirier-Bienvenu neurodevelopmental syndrome, Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS2536970927
Conflicting classifications of pathogenicity
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS372125807
Conflicting classifications of pathogenicity
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS1374628000
Likely pathogenic
Health Risk
RS1562050885
Likely pathogenic
Health Risk
RS1583610622
Likely pathogenic
Intellectual disability, Seizure, Developmental delay
Health Risk
RS1801761541
Likely pathogenic
Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome, Autism spectrum disorder
Health Risk
RS1802000840
Likely pathogenic
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
RS1802030746
Likely pathogenic
Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536947862 | Health Risk | Pathogenic | — |
| RS2536957931 | Health Risk | Pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS2536962628 | Health Risk | Pathogenic | — |
| RS2536963135 | Health Risk | Pathogenic | — |
| RS2536966052 | Health Risk | Pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS2536966071 | Health Risk | Pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS2536967534 | Health Risk | Pathogenic | — |
| RS2536967665 | Health Risk | Pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS2536968042 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554169462 | Health Risk | Pathogenic/Likely pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1554169967 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome, Inborn genetic diseases |
| RS1801755635 | Health Risk | Pathogenic/Likely pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1801961640 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome, Medulloblastoma WNT activated |
| RS1802000298 | Health Risk | Pathogenic/Likely pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS1802026476 | Health Risk | Pathogenic/Likely pathogenic | See cases, Poirier-Bienvenu neurodevelopmental syndrome, See cases |
| RS1802055133 | Health Risk | Pathogenic/Likely pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS2151185341 | Health Risk | Pathogenic/Likely pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome |
| RS2151188789 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Poirier-Bienvenu neurodevelopmental syndrome, Neurodevelopmental disorder |
| RS2536958403 | Health Risk | Pathogenic/Likely pathogenic | CSNK2B-related disorder, Poirier-Bienvenu neurodevelopmental syndrome, Nonpapillary renal cell carcinoma |
| RS2536967921 | Health Risk | Pathogenic/Likely pathogenic | Poirier-Bienvenu neurodevelopmental syndrome, Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome |