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Aliases for DYRK1A Gene

Aliases for DYRK1A Gene

  • Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A 2 3 5
  • Dual Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2 3
  • Dual Specificity YAK1-Related Kinase 3 4
  • Protein Kinase Minibrain Homolog 3 4
  • DYRK 3 4
  • MNBH 3 4
  • HP86 3 4
  • MNB 3 4
  • Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2
  • Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A 3
  • Serine/Threonine-Specific Protein Kinase 3
  • Mnb Protein Kinase Homolog Hp86 3
  • Serine/Threonine Kinase MNB 3
  • MNB/DYRK Protein Kinase 3
  • EC 2.7.12.1 4
  • EC 2.7.12 56
  • DYRK1 3
  • MRD7 3
  • HMNB 4

External Ids for DYRK1A Gene

Previous HGNC Symbols for DYRK1A Gene

  • DYRK1
  • DYRK
  • MNBH

Previous GeneCards Identifiers for DYRK1A Gene

  • GC21P035317
  • GC21P037659
  • GC21P037712
  • GC21P037660
  • GC21P037661
  • GC21P038739
  • GC21P024215

Summaries for DYRK1A Gene

Entrez Gene Summary for DYRK1A Gene

  • 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]

GeneCards Summary for DYRK1A Gene

DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A) is a Protein Coding gene. Diseases associated with DYRK1A include Mental Retardation, Autosomal Dominant 7 and Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation. Among its related pathways are T-Cell Receptor and Co-stimulatory Signaling and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is DYRK1B.

UniProtKB/Swiss-Prot for DYRK1A Gene

  • Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity).

Tocris Summary for DYRK1A Gene

  • Dual-specificity tyrosine phosphorylation-regulated kinases (DYRKs) are conserved serine/threonine kinases. DYRKs have been implicated in cell survival, proliferation and differentiation, and in the pathology of Down Syndrome and Alzheimer's disease.

Gene Wiki entry for DYRK1A Gene

Additional gene information for DYRK1A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYRK1A Gene

Genomics for DYRK1A Gene

GeneHancer (GH) Regulatory Elements for DYRK1A Gene

Promoters and enhancers for DYRK1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I037364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 555.7 +2.5 2465 7.1 MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC MEF2D DYRK1A GC21M037368 TTC3 ENSG00000242553 DSCR3 LOC100288590 ENSG00000273210
GH21I037420 Promoter/Enhancer 1 EPDnew dbSUPER 550.2 +54.5 54516 0.1 ZNF148 ATF4 ZNF512 ZEB2 DYRK1A GC21M037455 GC21P037381 GC21M037417
GH21I037418 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.2 +53.1 53050 0.1 SCRT2 DYRK1A GC21M037455 GC21P037381 GC21M037417
GH21I037071 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 34.2 -292.6 -292646 4.2 DMAP1 YY1 ZNF213 ZNF416 ZNF143 ZNF548 SP3 NFYC ZNF610 GLIS1 TTC3 PIGP SETD4 ENSG00000242553 DYRK1A MORC3 TTC3-AS1 ENSG00000224790 LOC105372795 GC21M037042
GH21I038229 Enhancer 1 ENCODE dbSUPER 53.9 +863.6 863608 0.1 ZNF529 KLF17 KLF5 ZNF155 ZNF280A ZNF23 CBX5 ZNF302 ZNF416 ZNF350 DYRK1A GC21M038236 DSCR10 KCNJ15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DYRK1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DYRK1A gene promoter:

Genomic Locations for DYRK1A Gene

Genomic Locations for DYRK1A Gene
chr21:37,365,790-37,517,450
(GRCh38/hg38)
Size:
151,661 bases
Orientation:
Plus strand
chr21:38,738,092-38,889,753
(GRCh37/hg19)

Genomic View for DYRK1A Gene

Genes around DYRK1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYRK1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYRK1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYRK1A Gene

Proteins for DYRK1A Gene

  • Protein details for DYRK1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13627-DYR1A_HUMAN
    Recommended name:
    Dual specificity tyrosine-phosphorylation-regulated kinase 1A
    Protein Accession:
    Q13627
    Secondary Accessions:
    • O60769
    • Q92582
    • Q92810
    • Q9UNM5

    Protein attributes for DYRK1A Gene

    Size:
    763 amino acids
    Molecular mass:
    85584 Da
    Quaternary structure:
    • Interacts RAD54L2/ARIP4 (By similarity). Interacts with CRY2 (By similarity). Interacts with RANBP9 (PubMed:14500717). Interacts with WDR68 (PubMed:14593110). Interacts with SRSF6 (PubMed:22767602). Interacts with SIRT1 (By similarity).
    • (Microbial infection) Interacts with human adenovirus 5 E1A protein (PubMed:23864635).

    Three dimensional structures from OCA and Proteopedia for DYRK1A Gene

    Alternative splice isoforms for DYRK1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYRK1A Gene

Selected DME Specific Peptides for DYRK1A Gene

Q13627:
  • QYSDRRQ
  • SHHSMTSLSSSTTSSSTSSSSTGNQGNQAYQNRPVAANTL
  • HDTEMKYYIVHLK
  • AMDCETHSPQVRQQFP
  • YDLAIDMWSLGCILVEMHTGEPLFSG
  • ALQHSFF
  • WMDRYEIDSLIGK
  • PYYALQH
  • DQIQQPL
  • SNPRQETGI
  • FRGVSLNLTRK
  • IVEVLGIPPA
  • EYKPPGTRKLHN
  • LSYNLYDLLRNT
  • EAPTQVT
  • NEVDQMNKIVEVLG
  • DLIKTYKHIN
  • IGKGSFGQV
  • NPKRSAIKI
  • QAPKARK
  • ETHPVQETTFHV

Post-translational modifications for DYRK1A Gene

  • Autophosphorylated on numerous tyrosine residues. Can also autophosphorylate on serine and threonine residues (in vitro).

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DYRK1A (DYRK1A)
  • Abcam antibodies for DYRK1A
  • Santa Cruz Biotechnology (SCBT) Antibodies for DYRK1A

Domains & Families for DYRK1A Gene

Gene Families for DYRK1A Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DYRK1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13627

UniProtKB/Swiss-Prot:

DYR1A_HUMAN :
  • The polyhistidine repeats act as targeting signals to nuclear speckles.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
Domain:
  • The polyhistidine repeats act as targeting signals to nuclear speckles.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
genes like me logo Genes that share domains with DYRK1A: view

Function for DYRK1A Gene

Molecular function for DYRK1A Gene

GENATLAS Biochemistry:
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1,Drosophila minibrain homolog Dres27,mouse homolog ubiquitously expressed at low levels in embryo,expressed in adult central nervous system -cortex,hippocampus,striatum and spinal cord) located in the Down syndrome critical region (DCR),involved in post-embryonic neurogenesis,putatively overexpressed in Down syndrome and involved in the learning defect and in hypotonia
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by RANBP9 (PubMed:14500717). Inhibited by harmine, leucettamine B and leucettine L41 (PubMed:22998443).
UniProtKB/Swiss-Prot Function:
Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity).

Enzyme Numbers (IUBMB) for DYRK1A Gene

Phenotypes From GWAS Catalog for DYRK1A Gene

Gene Ontology (GO) - Molecular Function for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS --
GO:0004674 protein serine/threonine kinase activity TAS,ISS 20736167
GO:0004712 protein serine/threonine/tyrosine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity ISS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IDA 9748265
genes like me logo Genes that share ontologies with DYRK1A: view
genes like me logo Genes that share phenotypes with DYRK1A: view

Human Phenotype Ontology for DYRK1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYRK1A Gene

MGI Knock Outs for DYRK1A:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for DYRK1A Gene

Localization for DYRK1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYRK1A Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYRK1A gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,TAS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 24327345
GO:0005856 colocalizes_with cytoskeleton IDA 24327345
GO:0016607 nuclear speck TAS,ISS 28377597
genes like me logo Genes that share ontologies with DYRK1A: view

Pathways & Interactions for DYRK1A Gene

genes like me logo Genes that share pathways with DYRK1A: view

Pathways by source for DYRK1A Gene

1 Cell Signaling Technology pathway for DYRK1A Gene
1 GeneGo (Thomson Reuters) pathway for DYRK1A Gene
1 R&D Systems pathway for DYRK1A Gene

SIGNOR curated interactions for DYRK1A Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006468 protein phosphorylation TAS,ISS 24327345
GO:0007399 nervous system development TAS 8769099
GO:0007623 circadian rhythm ISS --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with DYRK1A: view

Drugs & Compounds for DYRK1A Gene

(13) Drugs for DYRK1A Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-(5-{[(2S)-4-amino-2-(3-chlorophenyl)butanoyl]amino}-1H-indazol-3-yl)benzamide Experimental Pharma Target 0
ATP Investigational Nutra Agonist 0
ID-8 Pharma 0
Harmine Pharma Potent and selective DYRK1A inhibitor 1
INDY Pharma Dyrk1A and Dyrk1B inhibitor, selective, DYRK1A/B inhibitor 0

(6) Additional Compounds for DYRK1A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(3) Tocris Compounds for DYRK1A Gene

Compound Action Cas Number
Harmine Potent and selective DYRK1A inhibitor 442-51-3
INDY DYRK1A/B inhibitor 1169755-45-6
ProINDY DYRK1A/B inhibitor; prodrug of INDY (Cat. No. 4997) 719277-30-2

(1) ApexBio Compounds for DYRK1A Gene

Compound Action Cas Number
ID-8 147591-46-6
genes like me logo Genes that share compounds with DYRK1A: view

Drug Products

Transcripts for DYRK1A Gene

Unigene Clusters for DYRK1A Gene

Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYRK1A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1: -
SP2: - -
SP3: -
SP4: - - -
SP5: - - - -
SP6: - - - - -

Relevant External Links for DYRK1A Gene

GeneLoc Exon Structure for
DYRK1A
ECgene alternative splicing isoforms for
DYRK1A

Expression for DYRK1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DYRK1A Gene

Protein differential expression in normal tissues from HIPED for DYRK1A Gene

This gene is overexpressed in Fetal Brain (10.8), Heart (10.1), Peripheral blood mononuclear cells (8.8), Placenta (8.0), and Fetal ovary (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DYRK1A Gene



Protein tissue co-expression partners for DYRK1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DYRK1A Gene:

DYRK1A

SOURCE GeneReport for Unigene cluster for DYRK1A Gene:

Hs.368240

mRNA Expression by UniProt/SwissProt for DYRK1A Gene:

Q13627-DYR1A_HUMAN
Tissue specificity: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney.

Evidence on tissue expression from TISSUES for DYRK1A Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Muscle(2.3)
  • Blood(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DYRK1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DYRK1A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DYRK1A Gene

Orthologs for DYRK1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DYRK1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYRK1A 33 34
  • 99.65 (n)
oppossum
(Monodelphis domestica)
Mammalia DYRK1A 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYRK1A 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYRK1A 33 34
  • 96.51 (n)
cow
(Bos Taurus)
Mammalia DYRK1A 33 34
  • 95.54 (n)
rat
(Rattus norvegicus)
Mammalia Dyrk1a 33
  • 94.28 (n)
mouse
(Mus musculus)
Mammalia Dyrk1a 33 16 34
  • 93.93 (n)
chicken
(Gallus gallus)
Aves DYRK1A 33 34
  • 88.15 (n)
lizard
(Anolis carolinensis)
Reptilia DYRK1A 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dyrk1a 33
  • 83.85 (n)
Str.507 33
African clawed frog
(Xenopus laevis)
Amphibia dyrk1a-prov 33
zebrafish
(Danio rerio)
Actinopterygii dyrk1ab 34
  • 84 (a)
OneToMany
dyrk1aa 33 34
  • 72.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta mnb 35 34
  • 82 (a)
worm
(Caenorhabditis elegans)
Secernentea mbk-1 35 34
  • 70 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAK1 34
  • 21 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.14313 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1202 34
  • 79 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4844 33
Species where no ortholog for DYRK1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DYRK1A Gene

ENSEMBL:
Gene Tree for DYRK1A (if available)
TreeFam:
Gene Tree for DYRK1A (if available)

Paralogs for DYRK1A Gene

Paralogs for DYRK1A Gene

(14) SIMAP similar genes for DYRK1A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DYRK1A: view

Variants for DYRK1A Gene

Sequence variations from dbSNP and Humsavar for DYRK1A Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1039571136 likely-pathogenic, pathogenic, not provided, Mental retardation, autosomal dominant 7 37,490,442(+) C/A/T coding_sequence_variant, missense_variant
rs1049764 likely-benign, not specified, Mental retardation, autosomal dominant 7 37,478,234(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1057175147 uncertain-significance, Mental retardation, autosomal dominant 7 37,472,720(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1057516030 pathogenic, Mental retardation, autosomal dominant 7 37,480,786(+) A/AA coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs1057518204 pathogenic, not provided, Mental retardation, autosomal dominant 7 37,480,659(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for DYRK1A Gene

Variant ID Type Subtype PubMed ID
nsv953362 CNV duplication 24416366
nsv834096 CNV loss 17160897
nsv1136635 CNV deletion 24896259
nsv1059823 CNV gain 25217958
esv3646991 CNV loss 21293372
esv3377435 CNV insertion 20981092
esv1001034 CNV deletion 20482838
dgv1271e212 CNV loss 25503493
dgv1270e212 CNV loss 25503493

Variation tolerance for DYRK1A Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYRK1A Gene

Human Gene Mutation Database (HGMD)
DYRK1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYRK1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYRK1A Gene

Disorders for DYRK1A Gene

MalaCards: The human disease database

(13) MalaCards diseases for DYRK1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 7
  • mrd7
intellectual disability syndrome due to a dyrk1a point mutation
  • dyrk1a-related intellectual disability syndrome due to a point mutation
microcephaly
  • microcephalus
visual epilepsy
  • epilepsy, visual
seizure disorder
  • epilepsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DYR1A_HUMAN
  • Mental retardation, autosomal dominant 7 (MRD7) [MIM:614104]: A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21294719, ECO:0000269 PubMed:23160955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DYRK1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DYRK1A: view

No data available for Genatlas for DYRK1A Gene

Publications for DYRK1A Gene

  1. DYRK1A and DYRK3 promote cell survival through phosphorylation and activation of SIRT1. (PMID: 20167603) Guo X … Li X (The Journal of biological chemistry 2010) 3 4 22 58
  2. DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. (PMID: 19995442) Vázquez-Higuera JL … Combarros O (BMC medical genetics 2009) 3 22 44 58
  3. Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (PMID: 10329007) Guimera J … Pritchard M (Genomics 1999) 3 4 22 58
  4. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PMID: 9037601) Ohira M … Ohki M (Genome research 1997) 3 4 22 58
  5. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PMID: 9284911) Guimera J … Estivill X (Cytogenetics and cell genetics 1997) 2 3 22 58

Products for DYRK1A Gene

Sources for DYRK1A Gene

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