Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

DYRK1A

contributors: mct/pg/shn - updated : 25-01-2022

HGNC name	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
HGNC id	3091

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

TRI21 , DEL21QD , MRD7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   significantly elevated in hippocampus of patients with Alzheimer constitutional   deletion     haploinsufficiency causative for microcephaly observed in partial monosomy 21 constitutional     --other   DYRK1A dosage imbalance perturbs REST levels with decreased REST expression in embryonic neurons and increased expression in adult neurons constitutional     --over   contributes to neurofibrillary degeneration in Down syndrome more significantly than in subjects with two copies of the DYRK1A gene and sporadic Alzheimer disease) constitutional     --over   as in Down syndrome could lead to neurofibrillary degeneration by shifting the alternative splicing of MAPT exon 10 to an increase in the ratio of 3R-tau/4R-tau tumoral     --over   in glioma and glioblastoma cells, and its expression was positively correlated with that of NFATC1 tumoral     --over   in pancreatic ductal adenocarcinoma (PDAC)

Susceptibility

Variant & Polymorphism

Candidate gene	for mental retardation in Down syndrome through deregulation of REST
Marker
Therapy target
	System Type Disorder Pubmed mental retardation trisomy   DYRK1A inhibitor has been proposed as a novel drug to address learning and memory deficit in Down syndrome neurology neurodegenerative   targeting DYRK1A is a potential strategy for management of neurodegenerative disorders cancer     targeting DYRK1A as a potential strategy for management of cancer cancer brain glioma/neuroblstoma pharmacological inhibition of DYRK1A by polypeptides could represent a promising therapeutic intervention for GBM neurology neurodegenerative alzheimer small molecule inhibition of DYRK1A could thus represent an interesting approach toward the treatment of Alzheimer's and other neurodegenerative disease cancer endocrine pancreas inhibition of DYRK1A could represent a novel therapeutic target for PDAC

ANIMAL & CELL MODELS

	Dyrk1A Mutant Drosophila minibrain flies have a reduction in both optic lobes and central brain, showing learning deficits and hypoactivity
	mice overexpressing the full-length cDNA of Dyrk1A exhibit delayed cranio-caudal maturation with functional consequences in neuromotor development, altered motor skill acquisition and hyperactivity, a significant impairment in spatial learning and cognitive flexibility, hippocampal and prefrontal cortex dysfunction
	Dyrk1A(-/-) mice have a general growth delay and die during midgestation and Dyrk1A(+/-) mice show decreased neonatal viability and a significant body size reduction from birth to adulthood
	Dyrk1a overexpression in primary mouse cortical neurons induced severe reduction of the dendritic growth and dendritic complexity
	increased expression of phospho-Thr(192)-RCAN1 was observed in the brains of transgenic mice overexpressing the Dyrk1A protein
	normalizing Dyrk1A gene expression in the striatum of adult TgDyrk1A mice, by means of AAVshRNA, clearly reverses motor impairment