Gene Gene information from NCBI Gene database.
Entrez ID 1859
Gene name Dual specificity tyrosine phosphorylation regulated kinase 1A
Gene symbol DYRK1A
Synonyms (NCBI Gene)
DYRKDYRK1HP86MNBMNBHMRD7
Chromosome 21
Chromosome location 21q22.13
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
SNPs SNP information provided by dbSNP.
55
SNP ID Visualize variation Clinical significance Consequence
rs149948846 A>C,G Conflicting-interpretations-of-pathogenicity Missense variant, 3 prime UTR variant, coding sequence variant
rs200808105 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, 3 prime UTR variant, coding sequence variant
rs373178770 C>A,G,T Pathogenic, uncertain-significance Stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs376106351 C>A,T Likely-pathogenic Synonymous variant, stop gained, coding sequence variant, intron variant
rs587776929 TA>- Pathogenic Frameshift variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
649
miRTarBase ID miRNA Experiments Reference
MIRT017031 hsa-miR-335-5p Microarray 18185580
MIRT024657 hsa-miR-215-5p Microarray 19074876
MIRT026006 hsa-miR-148a-3p Sequencing 20371350
MIRT026227 hsa-miR-192-5p Microarray 19074876
MIRT049774 hsa-miR-92a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
REST Unknown 21252229
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
85
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0000724 Process Double-strand break repair via homologous recombination IDA 22492721
GO:0003713 Function Transcription coactivator activity IBA
GO:0003779 Function Actin binding IPI 24327345
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600855 3091 ENSG00000157540
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13627
Protein name Dual specificity tyrosine-phosphorylation-regulated kinase 1A (EC 2.7.11.23) (EC 2.7.12.1) (Dual specificity YAK1-related kinase) (HP86) (Protein kinase minibrain homolog) (MNBH) (hMNB)
Protein function Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities (PubMed:20981014, PubMed:21127067, PubMed:23665168, PubMed:30773093, PubMed:8769099). Exhibits a substrate preference for proline at position P+1 and ar
PDB 2VX3 , 2WO6 , 3ANQ , 3ANR , 4AZE , 4MQ1 , 4MQ2 , 4NCT , 4YLJ , 4YLK , 4YLL , 4YU2 , 5A3X , 5A4E , 5A4L , 5A4Q , 5A4T , 5A54 , 5AIK , 6A1F , 6A1G , 6EIF , 6EIJ , 6EIL , 6EIP , 6EIQ , 6EIR , 6EIS , 6EIV , 6EJ4 , 6LN1 , 6QU2 , 6S11 , 6S14 , 6S17 , 6S1B , 6S1H , 6S1I , 6S1J , 6T6A , 6UIP , 6UWY , 6YF8 , 7A4O , 7A4R , 7A4S , 7A4W , 7A4Z , 7A51 , 7A52 , 7A53
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 159 479 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. {ECO:0000269|PubMed:10329007, ECO:0000269|PubMed:8769099, ECO:0000269|PubMed:8872470, ECO:0000269|PubMed:8975710}.
Sequence
MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSD
QIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQ
QGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRV
EQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEM
LSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKR
SAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPL
FSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGT
RKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFF
K
KTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGG
HFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQVTVETHPVQETTFHVAPQQNALHH
HHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVGHSHHSMTSLSS
STTSSSTSSSSTGNQGNQAYQNRPVAANTLDFGQNGAMDVNLTVYSNPRQETGIAGHPTY
QFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSPVASS
Sequence length 763
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    G0 and Early G1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
45
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Absent or delayed speech development Pathogenic rs724159949, rs724159950 RCV000149559
RCV000149560
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder Pathogenic rs724159948 RCV003126545
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder Pathogenic; Likely pathogenic rs724159953, rs797044521, rs797045041, rs746177928, rs1057518204, rs1064796367, rs780441716, rs1064794006, rs376106351, rs1131691946, rs1555984461, rs1555990958, rs1555990946, rs1555984102, rs1555985642
View all (3 more)
RCV001265301
RCV001265238
RCV001265307
RCV001265300
RCV001265465
View all (13 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deeply set eye Pathogenic rs724159949, rs724159950 RCV000149559
RCV000149560
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLECYSTITIS, ACUTE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 22354166, 22354171
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 27601662
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18696092, 19995442, 20067632, 21573099, 25264830, 25756379, 26234946, 31683476, 32957634, 33380426, 33633844, 35194165 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27807027 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 17135279
★☆☆☆☆
Found in Text Mining only
Amblyopia Amblyopia Pubtator 33562844 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 20456003, 25116835
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 25756379 Associate
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 23099646, 25944381
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman syndrome Pubtator 25944381 Associate
★☆☆☆☆
Found in Text Mining only