DYRK1B Chromosome 19
Dual specificity tyrosine phosphorylation regulated kinase 1B
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What This Gene Does
This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Dual-specificity tyrosine-regulated kinase family"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105204
Associated Conditions (3)
Abnormality of neuronal migration
DYRK1B-related disorder
Abdominal obesity-metabolic syndrome 3
Key Variants
RS556237495
Conflicting classifications of pathogenicity
Abnormality of neuronal migration, DYRK1B-related disorder, Abnormality of neuronal migration
Health Risk
RS563238934
Conflicting classifications of pathogenicity
Abdominal obesity-metabolic syndrome 3, DYRK1B-related disorder, Abdominal obesity-metabolic syndrome 3
Health Risk
RS367643250
Pathogenic
Abdominal obesity-metabolic syndrome 3, Abdominal obesity-metabolic syndrome 3
Health Risk
RS587777380
Pathogenic
Abdominal obesity-metabolic syndrome 3, Abdominal obesity-metabolic syndrome 3
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS556237495 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of neuronal migration, DYRK1B-related disorder, Abnormality of neuronal migration |
| RS563238934 | Health Risk | Conflicting classifications of pathogenicity | Abdominal obesity-metabolic syndrome 3, DYRK1B-related disorder, Abdominal obesity-metabolic syndrome 3 |
| RS367643250 | Health Risk | Pathogenic | Abdominal obesity-metabolic syndrome 3, Abdominal obesity-metabolic syndrome 3 |
| RS587777380 | Health Risk | Pathogenic | Abdominal obesity-metabolic syndrome 3, Abdominal obesity-metabolic syndrome 3 |