Gene Gene information from NCBI Gene database.
Entrez ID 9149
Gene name Dual specificity tyrosine phosphorylation regulated kinase 1B
Gene symbol DYRK1B
Synonyms (NCBI Gene)
AOMS3MIRK
Chromosome 19
Chromosome location 19q13.2
Summary This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdomi
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT016969 hsa-miR-335-5p Microarray 18185580
MIRT045408 hsa-miR-149-5p CLASH 23622248
MIRT044780 hsa-miR-320a CLASH 23622248
MIRT043128 hsa-miR-324-5p CLASH 23622248
MIRT038537 hsa-miR-30c-1-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 11980910
GO:0004672 Function Protein kinase activity IDA 11980910
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604556 3092 ENSG00000105204
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y463
Protein name Dual specificity tyrosine-phosphorylation-regulated kinase 1B (EC 2.7.12.1) (Minibrain-related kinase) (Mirk protein kinase)
Protein function Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Plays an essential role in ribosomal DNA (rDNA) double-strand break repair and rDNA copy number maintenance (PubMed:33469661). During DNA damage, media
PDB 8C2Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 111 431 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in skeletal muscle, testis, heart and brain with little expression in colon or lung. Expressed in a variety of tumor cell lines. {ECO:0000269|PubMed:10910078}.
Sequence
MAVPPGHGPFSGFPGPQEHTQVLPDVRLLPRRLPLAFRDATSAPLRKLSVDLIKTYKHIN
EVYYAKKKRRAQQAPPQDSSNKKEKKVLNHGYDDDNHDYIVRSGERWLERYEIDSLIGKG
SFGQVVKAYDHQTQELVAIKIIKNKKAFLNQAQIELRLLELMNQHDTEMKYYIVHLKRHF
MFRNHLCLVFELLSYNLYDLLRNTHFRGVSLNLTRKLAQQLCTALLFLATPELSIIHCDL
KPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGTPYDLAIDMWSLG
CILVEMHTGEPLFSGSNEVDQMNRIVEVLGIPPAAMLDQAPKARKYFERLPGGGWTLRRT
KELRKDYQGPGTRRLQEVLGVQTGGPGGRRAGEPGHSPADYLRFQDLVLRMLEYEPAARI
SPLGALQHGFF
RRTADEATNTGPAGSSASTSPAPLDTCPSSSTASSISSSGGSSGSSSDN
RTYRYSNRYCGGPGPPITDCEMNSPQVPPSQPLRPWAGGDVPHKTHQAPASASSLPGTGA
QLPPQPRYLGRPPSPTSPPPPELMDVSLVGGPADCSPPHPAPAPQHPAASALRTRMTGGR
PPLPPPDDPATLGPHLGLRGVPQSTAASS
Sequence length 629
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
134
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abdominal obesity-metabolic syndrome 3 Pathogenic rs367643250, rs587777380 RCV000119261
RCV000119262
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of neuronal migration Conflicting classifications of pathogenicity rs556237495 RCV000201390
DYRK1B-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs893357514, rs146996483, rs144803038, rs1320191888, rs201029953, rs1010396277, rs563238934, rs529074049, rs147484701, rs775501167, rs373037030, rs377036516, rs776537297, rs572640359, rs966556487
View all (99 more)
RCV004746436
RCV003913416
RCV003911040
RCV004746529
RCV004746581
RCV004746533
RCV003933794
RCV003903708
RCV003936520
RCV003395600
RCV003898868
RCV003953955
RCV003926413
RCV004747106
RCV003961113
RCV004747136
RCV003401044
RCV003936365
RCV003898653
RCV004747234
RCV004747238
RCV004747244
RCV004725600
RCV003420538
RCV004725661
RCV004747283
RCV004747285
RCV004747288
RCV003404305
RCV003417047
RCV003417066
RCV003427846
RCV003417094
RCV003417095
RCV003417118
RCV003410751
RCV003393089
RCV003402869
RCV003410616
RCV003414342
RCV003399947
RCV003397606
RCV003400027
RCV003414181
RCV003412200
RCV003416971
RCV003418774
RCV003402901
RCV003919240
RCV003939065
RCV003939066
RCV004747305
RCV003984383
RCV004747324
RCV003981083
RCV003919343
RCV003893428
RCV004747386
RCV004747399
RCV003896872
RCV003897085
RCV003894592
RCV003909462
RCV003921565
RCV003921622
RCV003929572
RCV003982791
RCV003982804
RCV003893953
RCV003893972
RCV003894015
RCV003894031
RCV003894147
RCV003894242
RCV003894435
RCV003906952
RCV003901997
RCV003912050
RCV003982325
RCV003899374
RCV003911471
RCV003909696
RCV003913976
RCV003943940
RCV003971914
RCV003919473
RCV003941561
RCV003939562
RCV003939663
RCV003939707
RCV003914463
RCV003951423
RCV003922238
RCV003932034
RCV003956790
RCV003964697
RCV003983713
RCV003971740
RCV003969808
RCV003962306
RCV003961881
RCV003964239
RCV004747413
RCV004747438
RCV003935284
RCV003979889
RCV003935815
RCV003983807
RCV003930509
RCV003922953
RCV003932852
RCV004746137
RCV003903050
RCV003983271
RCV004746170
Myoepithelial tumor Uncertain significance rs2514841029 RCV002463902
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 25264830
Colonic Neoplasms Associate 19542220
Colorectal Neoplasms Associate 19542220, 38040123
Coronary Artery Disease Associate 24827035
Diabetes Mellitus Associate 24827035, 37301518
Diabetes Mellitus Type 2 Associate 34193236
Down Syndrome Associate 25264830
Genetic Diseases Inborn Associate 25264830
Hypertension Associate 24827035
Hypoxia Stimulate 38040123