Human Gene BRSK2 (ENST00000308219.13) from GENCODE V44
  Description: Homo sapiens BR serine/threonine kinase 2 (BRSK2), transcript variant 2, mRNA. (from RefSeq NM_003957)
Gencode Transcript: ENST00000308219.13
Gencode Gene: ENSG00000174672.16
Transcript (Including UTRs)
   Position: hg38 chr11:1,389,899-1,462,685 Size: 72,787 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg38 chr11:1,390,285-1,460,989 Size: 70,705 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:1,389,899-1,462,685)mRNA (may differ from genome)Protein (668 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BRSK2_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein kinase BRSK2; EC=2.7.11.1; AltName: Full=Brain-selective kinase 2; EC=2.7.11.26; AltName: Full=Brain-specific serine/threonine-protein kinase 2; Short=BR serine/threonine-protein kinase 2; AltName: Full=Serine/threonine-protein kinase 29; AltName: Full=Serine/threonine-protein kinase SAD-A;
FUNCTION: Serine/threonine-protein kinase that plays a key role in polarization of neurons. Phosphorylates MAPT/TAU and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in post-mitotic neurons, leading to down-regulate WEE1 activity in polarized neurons.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
CATALYTIC ACTIVITY: ATP + [tau protein] = ADP + [tau protein] phosphate.
COFACTOR: Magnesium (By similarity).
ENZYME REGULATION: Activated by phosphorylation on Thr-174 by STK11/LKB1.
PTM: Phosphorylated at Thr-174 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not phosphorylated at Thr-174 by CaMKK2. In contrast, it is phosphorylated and activated by CaMKK1. May be inactivated via dephosphorylation of Thr-174 by PP2C. May be phosphorylated at Thr-260 by PKA. However, phosphorylation at Thr-260 by PKA was not comfirmed later (PubMed:18339622).
SIMILARITY: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 UBA domain.
SEQUENCE CAUTION: Sequence=AAD09654.1; Type=Erroneous termination; Positions=663; Note=Translated as Gly; Sequence=AAD09654.1; Type=Frameshift; Positions=640; Sequence=AAH24291.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BRSK2
Diseases sorted by gene-association score: limbic encephalitis (5), pleural tuberculosis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.08 RPKM in Brain - Cerebellum
Total median expression: 339.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -262.80386-0.681 Picture PostScript Text
3' UTR -758.001696-0.447 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain

ModBase Predicted Comparative 3D Structure on Q8IWQ3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019901 protein kinase binding
GO:0046872 metal ion binding
GO:0050321 tau-protein kinase activity
GO:0051117 ATPase binding
GO:0060590 ATPase regulator activity

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006468 protein phosphorylation
GO:0006887 exocytosis
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007399 nervous system development
GO:0007409 axonogenesis
GO:0010975 regulation of neuron projection development
GO:0016310 phosphorylation
GO:0018105 peptidyl-serine phosphorylation
GO:0030010 establishment of cell polarity
GO:0030182 neuron differentiation
GO:0031532 actin cytoskeleton reorganization
GO:0036503 ERAD pathway
GO:0043462 regulation of ATPase activity
GO:0048812 neuron projection morphogenesis
GO:0050770 regulation of axonogenesis
GO:0051301 cell division
GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0090176 microtubule cytoskeleton organization involved in establishment of planar polarity
GO:1904152 regulation of retrograde protein transport, ER to cytosol
GO:2000807 regulation of synaptic vesicle clustering

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AY166857 - Homo sapiens serine/threonine protein kinase isoform mRNA, complete cds.
AF533878 - Homo sapiens putative serine/threonine protein kinase variant B2 mRNA, complete cds.
AF533876 - Homo sapiens putative serine/threonine protein kinase variant A mRNA, complete cds.
AF533877 - Homo sapiens putative serine/threonine protein kinase variant B1 mRNA, complete cds.
AF533879 - Homo sapiens putative serine/threonine protein kinase variant C mRNA, complete cds.
AF533880 - Homo sapiens putative serine/threonine protein kinase variant B3 mRNA, complete cds.
HM005343 - Homo sapiens clone HTL-T-30 testicular tissue protein Li 30 mRNA, complete cds.
AY505125 - Homo sapiens protein kinase SAD-A mRNA, complete cds.
BC152769 - Synthetic construct Homo sapiens clone IMAGE:100015944, MGC:184168 BR serine/threonine kinase 2 (BRSK2) mRNA, encodes complete protein.
AK122851 - Homo sapiens cDNA FLJ16471 fis, clone BRHIP3013271, highly similar to BR serine/threonine-protein kinase 2 (EC 2.7.11.1).
AK131534 - Homo sapiens cDNA FLJ16763 fis, clone BRAMY3018357, weakly similar to SNF1-related protein kinase KIN10 (EC 2.7.1.-).
AJ006701 - Homo sapiens mRNA for putative serine/threonine protein kinase, partial.
AK297211 - Homo sapiens cDNA FLJ58378 complete cds, highly similar to BR serine/threonine-protein kinase 2 (EC 2.7.11.1).
JD276406 - Sequence 257430 from Patent EP1572962.
JD419560 - Sequence 400584 from Patent EP1572962.
AK074411 - Homo sapiens cDNA FLJ23831 fis, clone KAIA00425, highly similar to Homo sapiens mRNA for putative serine/threonine protein kinase.
AK297306 - Homo sapiens cDNA FLJ51499 complete cds, highly similar to BR serine/threonine-protein kinase 2 (EC 2.7.11.1).
DQ600947 - Homo sapiens piRNA piR-39013, complete sequence.
BC017182 - Homo sapiens BR serine/threonine kinase 2, mRNA (cDNA clone IMAGE:3343795).
BC024291 - Homo sapiens BR serine/threonine kinase 2, mRNA (cDNA clone IMAGE:3354414), complete cds.
AF020089 - Homo sapiens PEN11B mRNA, complete cds.
AK123356 - Homo sapiens cDNA FLJ41362 fis, clone BRCAN2003703, highly similar to Homo sapiens mRNA for putative serine/threonine protein kinase.
JD510349 - Sequence 491373 from Patent EP1572962.
JD461510 - Sequence 442534 from Patent EP1572962.
JD371549 - Sequence 352573 from Patent EP1572962.
JD455461 - Sequence 436485 from Patent EP1572962.
JD133866 - Sequence 114890 from Patent EP1572962.
JD054834 - Sequence 35858 from Patent EP1572962.
JD126756 - Sequence 107780 from Patent EP1572962.
JD334319 - Sequence 315343 from Patent EP1572962.
JD189173 - Sequence 170197 from Patent EP1572962.
JD107148 - Sequence 88172 from Patent EP1572962.
JD527121 - Sequence 508145 from Patent EP1572962.
JD462003 - Sequence 443027 from Patent EP1572962.
JD553684 - Sequence 534708 from Patent EP1572962.
JD217561 - Sequence 198585 from Patent EP1572962.
JD480155 - Sequence 461179 from Patent EP1572962.
JD271754 - Sequence 252778 from Patent EP1572962.
JD396663 - Sequence 377687 from Patent EP1572962.
JD143569 - Sequence 124593 from Patent EP1572962.
JD097283 - Sequence 78307 from Patent EP1572962.
JD372762 - Sequence 353786 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BRSK2_HUMAN, C11orf7, ENST00000308219.1, ENST00000308219.10, ENST00000308219.11, ENST00000308219.12, ENST00000308219.2, ENST00000308219.3, ENST00000308219.4, ENST00000308219.5, ENST00000308219.6, ENST00000308219.7, ENST00000308219.8, ENST00000308219.9, HUSSY-12, NM_003957, O60843, O95099, PEN11B, Q5J5B4, Q6ZMQ4, Q8IWQ3, Q8TB60, SADA, STK29, uc001ltj.1, uc001ltj.2, uc001ltj.3, uc001ltj.4, uc001ltj.5
UCSC ID: ENST00000308219.13
RefSeq Accession: NM_003957
Protein: Q8IWQ3 (aka BRSK2_HUMAN)
CCDS: CCDS41590.1, CCDS58106.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.