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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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 |
|
| Sequence length |
629 |
| Interactions |
View interactions |
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|
| 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, rs556237495, rs765779420, rs376341893, rs563920364, rs761527610, rs777699056, rs763767536, rs780163777, rs2514821156, rs778845035, rs370916863, rs770275514, rs376035962, rs771417583, rs1011510813, rs370142622, rs368238144, rs1193986807, rs373240762, rs781666002, rs764175273, rs200104062, rs749209600, rs779019532, rs377489900, rs745880233, rs750653288, rs373850179, rs777674210, rs762302792, rs1236287085, rs2514835525, rs375200082, rs148897290, rs149848740, rs1968526630, rs370270909, rs776640518, rs146845211, rs200639977, rs1246709294, rs141849649, rs1470138524, rs759742868, rs2514828062, rs763155290, rs749686968, rs1272223595, rs1034254717, rs746346346, rs142943294, rs769617031, rs1409770889, rs768079960, rs1968826886, rs1391630651, rs560281747, rs757658083, rs375205659, rs868166543, rs749297764, rs989813783, rs779874553, rs374201026, rs771204068, rs200681061, rs755994296, rs538308215, rs746933234, rs148788670, rs753578998, rs1968497789, rs149054894, rs1161676501, rs772198180, rs776153492, rs370695515, rs751446560, rs543090482, rs992170060, rs1162340849, rs368441972, rs943781686, rs377232175, rs745682157, rs749102527, rs1968826689, rs773857931, rs370237703, rs78838108, rs367812081, rs34587974, rs371524346, rs376532410, rs575857490, rs758978709, rs201098298, rs538648311, rs773231614 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 |
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| 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 |
| Infections |
Associate |
25648438 |
| Lymphoma |
Associate |
25648438 |
| Metabolic Syndrome |
Associate |
24827035, 26346493, 28743892 |
| Mouth Diseases |
Associate |
29559974 |
| Neoplasms |
Associate |
19542220, 21878655, 22385282, 23114871, 26346493, 38040123 |
| Neurodegenerative Diseases |
Associate |
25264830 |
| Obesity |
Associate |
37329217 |
| Osteosarcoma |
Associate |
20042639 |
| Ovarian Neoplasms |
Associate |
23114871, 24590896 |
| Pancreatic Neoplasms |
Associate |
19351855, 21878655, 24590896 |
| Papillomavirus Infections |
Associate |
26307683 |
| Prostatic Neoplasms |
Associate |
25777618 |
| Tauopathies |
Associate |
25264830 |
| Vascular Diseases |
Associate |
37301518 |
|