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Dyrk1a Gene Detail
Summary
  • Symbol
    Dyrk1a
  • Name
    dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a
  • Synonyms
    2310043O08Rik, D16Ertd272e, D16Ertd493e, Dyrk, Mnbh
  • Feature Type
    protein coding gene
  • IDs
    MGI:1330299
    NCBI Gene: 13548
  • Gene Overview
    MyGene.info: DYRK1A
Location & Maps
more
  • Sequence Map
    Chr16:94570010-94695067 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      125058 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DYRK1A, dual specificity tyrosine phosphorylation regulated kinase 1A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DYRK1A, dual specificity tyrosine phosphorylation regulated kinase 1A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DYRK, DYRK1, HP86, MNB, MNBH, MRD7
  • Links
    NCBI Gene ID: 1859
    neXtProt AC: NX_Q13627

  • Chr Location
    21q22.13; chr21:37365790-37515376 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Dyrk1a mouse models; 1 with human DYRK1A associations

Human Disease Mouse Models
       Down Syndrome   OMIM: 190685 View 5 models
       Mental Retardation, Autosomal Dominant 7; MRD7   OMIM: 614104
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 4 alleles in 5 genetic backgrounds
    24 phenotypes from multigenic genotypes
    58 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    151
  • Gene trapped
    130
  • Targeted
    13
  • Transgenic
    8
  • Genomic Mutations
    9 involving Dyrk1a
  • Incidental Mutations
Mice homozygous for a targeted deletion present a general embryonic growth delay and die during midgestation. Heterozygotes display reduced postnatal survival, postnatal growth retardation, microcephaly, behavioral and motor deficits, and altered neocortical pyramidal cell morphology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028435 VEGA Gene Model | MGI Sequence Detail 125058 C57BL/6J ±  kb
transcript OTTMUST00000070459 VEGA | MGI Sequence Detail 5759 Not Applicable  
polypeptide OTTMUSP00000035913 VEGA | MGI Sequence Detail 763 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    513 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000006781 dual specificity tyrosine-phosphorylation-regulated kinase 1A
  • EC
  • InterPro Domains
    IPR028318 Dual specificity tyrosine-phosphorylation-regulated kinase 1A
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
Molecular
Reagents
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  • All nucleic 153
    Genomic 5
    cDNA 139
    Primer pair 7
    Other 2

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-28072, MGD-MRK-38315, MGI:104780, MGI:109270, MGI:1196299, MGI:1277155, MGI:1923715
References
more
  • Summaries
    All 90
    Developmental Gene Expression 21
    Diseases 12
    Gene Ontology 13
    Phenotypes 58
  • Earliest
    J:29230 Patil N, et al., A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation [see comments]. Nat Genet. 1995 Oct;11(2):126-9
  • Latest
    J:226041 Blazek JD, et al., Rescue of the abnormal skeletal phenotype in Ts65Dn Down syndrome mice using genetic and therapeutic modulation of trisomic Dyrk1a. Hum Mol Genet. 2015 Oct 15;24(20):5687-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory