DYRK1A Chromosome 21
Dual specificity tyrosine phosphorylation regulated kinase 1A
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What This Gene Does
This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dual-specificity tyrosine-regulated kinase family
Locus Type
gene with protein product
Location
21q22.13
Ensembl
ENSG00000157540
Associated Conditions (18)
DYRK1A-related intellectual disability syndrome
Inborn genetic diseases
Neurodevelopmental disorder
See cases
Intellectual disability
DYRK1A-related disorder
Clear cell carcinoma of kidney
Complex neurodevelopmental disorder
Male infertility with spermatogenesis disorder
6 conditions
Global developmental delay
Autism spectrum disorder
Absent or delayed speech development
Deeply set eye
Feeding difficulties
Microcephaly
Generalized-onset seizure
Microphthalmia
Key Variants
RS1029281009
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1041691170
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, Inborn genetic diseases, DYRK1A-related intellectual disability syndrome
Health Risk
RS1057175147
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1057521693
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1057522660
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1131692019
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1212700979
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1241074832
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1263036686
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1268200083
Conflicting classifications of pathogenicity
Inborn genetic diseases, DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
Health Risk
RS1336115331
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
Health Risk
RS1353409115
Conflicting classifications of pathogenicity
DYRK1A-related intellectual disability syndrome, Inborn genetic diseases, Neurodevelopmental disorder
Health Risk
All Variants (265)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886041778 | Health Risk | Pathogenic | — |
| RS886041833 | Health Risk | Pathogenic | — |
| RS886041993 | Health Risk | Pathogenic | — |
| RS1064794894 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome |
| RS1064796367 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder, DYRK1A-related intellectual disability syndrome |
| RS1555984064 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, Intellectual disability, See cases |
| RS1555984461 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder, DYRK1A-related intellectual disability syndrome |
| RS1601315812 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, DYRK1A-related disorder, DYRK1A-related intellectual disability syndrome |
| RS2148612918 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, DYRK1A-related intellectual disability syndrome, Intellectual disability |
| RS2518048062 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome |
| RS753795563 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, DYRK1A-related disorder, DYRK1A-related intellectual disability syndrome |
| RS780441716 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder |
| RS797044526 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome |
| RS797045041 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, Intellectual disability, Complex neurodevelopmental disorder |
| RS869312708 | Health Risk | Pathogenic/Likely pathogenic | DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome |