Gene: DYRK1A

Alternate names for this Gene: DYRK|DYRK1|HP86|MNB|MNBH|MRD7

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.13

Description of this Gene: dual specificity tyrosine phosphorylation regulated kinase 1A

Type of Gene: protein-coding

rs2835750 in DYRK1A gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17193211 in DYRK1A gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs797044519 in DYRK1A gene and Broad-based gait PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs1555985620 in DYRK1A gene and Dysmorphic features PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

rs17814633 in DYRK1A gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12483205 in DYRK1A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs797044519 in DYRK1A gene and Global developmental delay PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044519 in DYRK1A gene and Intrauterine retardation PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs1057519628 in DYRK1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 28053047 2017 Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs797044519 in DYRK1A gene and Microcephaly (physical finding) PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs1555990751 in DYRK1A gene and Multiple congenital anomalies PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

rs1555985642 in DYRK1A gene and Muscle hypotonia PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

rs797044519 in DYRK1A gene and Poor school performance PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs2835750 in DYRK1A gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs797044519 in DYRK1A gene and Seizures PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044519 in DYRK1A gene and Severe speech delay PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044519 in DYRK1A gene and Short stature PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs2835731 in DYRK1A gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.