Aliases for BRSK2 Gene

Aliases for BRSK2 Gene

  • BR Serine/Threonine Kinase 2 2 3 5
  • Brain-Specific Serine/Threonine-Protein Kinase 2 3 4
  • Serine/Threonine-Protein Kinase BRSK2 3 4
  • Serine/Threonine-Protein Kinase SAD-A 3 4
  • BR Serine/Threonine-Protein Kinase 2 3 4
  • Serine/Threonine-Protein Kinase 29 3 4
  • Brain-Selective Kinase 2 3 4
  • EC 2.7.11.1 4 54
  • C11orf7 3 4
  • PEN11B 3 4
  • STK29 3 4
  • SADA 3 4
  • Chromsosome 11 Open Reading Frame 7 2
  • Testicular Tissue Protein Li 30 3
  • Serine/Threonine Kinase 29 2
  • Protein Kinase SAD1B 3
  • EC 2.7.11.26 4
  • EC 2.7.11 54
  • SAD1 3

External Ids for BRSK2 Gene

Previous HGNC Symbols for BRSK2 Gene

  • C11orf7
  • STK29

Previous GeneCards Identifiers for BRSK2 Gene

  • GC11P001368
  • GC11P001247

Summaries for BRSK2 Gene

GeneCards Summary for BRSK2 Gene

BRSK2 (BR Serine/Threonine Kinase 2) is a Protein Coding gene. Diseases associated with BRSK2 include Paraneoplastic Limbic Encephalitis and Limbic Encephalitis. Among its related pathways are Neuroscience and DNA Damage. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BRSK1.

UniProtKB/Swiss-Prot Summary for BRSK2 Gene

  • Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 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 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 can promote insulin secretion (PubMed:22669945). Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress.

Gene Wiki entry for BRSK2 Gene

Additional gene information for BRSK2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRSK2 Gene

Genomics for BRSK2 Gene

GeneHancer (GH) Regulatory Elements for BRSK2 Gene

Promoters and enhancers for BRSK2 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
GH11J001390 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 768.9 +0.7 735 3.7 NFYC HLF L3MBTL2 HDGF MNT POLR2A SP7 GLIS2 ZIC2 PRDM10 BRSK2 CEND1 SLC25A22 TOLLIP-AS1 piR-47801-001
GH11J001388 Enhancer 0.6 FANTOM5 dbSUPER 750.6 -1.4 -1430 0.3 CTCF NR2F6 EZH2 SIN3A BRSK2 KRTAP5-1 KRTAP5-5 KRTAP5-6 KRTAP5-3 HSALNG0082101
GH11J000443 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -942.1 -942085 8.4 SIN3A SP1 ZBTB40 CTCF SIX5 LCORL MLX RBPJ SMARCE1 POLR2A PTDSS2 PHRF1 SNORA52 TSPAN4 RNH1 RIC8A ENSG00000255237 TMEM80 BET1L LRRC56
GH11J000690 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -694.8 -694814 8.7 CTCF SMARCE1 POLR2A USF2 MYC ETV6 L3MBTL2 MAX RAD21 DACH1 TMEM80 EPS8L2 lnc-SCT-3 DEAF1 SNORA52 BET1L ENSG00000255237 RNH1 TSPAN4 RPLP2
GH11J000807 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -578.9 -578912 6.2 ZBTB40 SP1 SIX5 RBPJ POLR2A USF2 ATF1 CREB1 HCFC1 MIXL1 RPLP2 PIDD1 SNORA52 NONHSAG007351.2 lnc-PNPLA2-2 lnc-PIDD1-2 TMEM80 PHRF1 ENSG00000255108 TSPAN4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRSK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BRSK2 gene promoter:
  • E2F
  • E2F-1
  • E47
  • GATA-1
  • NF-1
  • SEF-1 (1)
  • Sp1
  • Tal-1

Genomic Locations for BRSK2 Gene

Genomic Locations for BRSK2 Gene
chr11:1,389,899-1,462,689
(GRCh38/hg38)
Size:
72,791 bases
Orientation:
Plus strand
chr11:1,411,129-1,483,919
(GRCh37/hg19)
Size:
72,791 bases
Orientation:
Plus strand

Genomic View for BRSK2 Gene

Genes around BRSK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRSK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRSK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRSK2 Gene

Proteins for BRSK2 Gene

  • Protein details for BRSK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWQ3-BRSK2_HUMAN
    Recommended name:
    Serine/threonine-protein kinase BRSK2
    Protein Accession:
    Q8IWQ3
    Secondary Accessions:
    • B3KVE9
    • E9PLM7
    • O60843
    • O95099
    • Q5J5B4
    • Q6ZMQ4
    • Q8TB60

    Protein attributes for BRSK2 Gene

    Size:
    736 amino acids
    Molecular mass:
    81633 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with FZR1, a regulatory subunit of the APC ubiquitin ligase complex. Interacts with COPS5. Interacts with PAK1.
    SequenceCaution:
    • Sequence=AAD09654.1; Type=Erroneous termination; Positions=663; Note=Translated as Gly.; Evidence={ECO:0000305}; Sequence=AAD09654.1; Type=Frameshift; Positions=640; Evidence={ECO:0000305}; Sequence=AAH24291.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BRSK2 Gene

neXtProt entry for BRSK2 Gene

Selected DME Specific Peptides for BRSK2 Gene

Q8IWQ3:
  • TSCGSPHYA
  • VSGGELFDY
  • KPENLLLDE
  • ALDFCHS
  • LKPENLL
  • RDLKPEN
  • HRDLKPENLLLD
  • WSCGVIL

Post-translational modifications for BRSK2 Gene

  • 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. Phosphorylated at Thr-260 by PKA. Phosphorylation at Thr-260 by PKA was not observed in another study (PubMed:18339622), but this may reflect differences in the experimental approach. Phosphorylation at Thr-260 seems to play a role in the regulation of insulin secretion (PubMed:22669945).
  • Polyubiquitinated by the APC complex in conjunction with FZR1, leading to its proteasomal degradation. Targeted for proteasomal degradation by interaction with COPS5. BRSK2 levels change during the cell cycle. BRSK2 levels are low at the G1/S boundary and gradually increase as cells progress into G2 phase. BRSK2 levels decrease rapidly at the end of mitosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for BRSK2 Gene

Gene Families for BRSK2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BRSK2 Gene

Suggested Antigen Peptide Sequences for BRSK2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58378, highly similar to BR serine/threonine-protein kinase 2 (EC 2.7.11.1) (B4DLY3_HUMAN)
  • cDNA FLJ51499, highly similar to BR serine/threonine-protein kinase 2 (EC 2.7.11.1) (B4DM60_HUMAN)
  • Serine/threonine-protein kinase SAD-A (BRSK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IWQ3

UniProtKB/Swiss-Prot:

BRSK2_HUMAN :
  • The KEN box motif is required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
Domain:
  • The KEN box motif is required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
genes like me logo Genes that share domains with BRSK2: view

Function for BRSK2 Gene

Molecular function for BRSK2 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 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 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 can promote insulin secretion (PubMed:22669945). Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[tau protein]-L-serine + ATP = [tau protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:12801, Rhea:RHEA-COMP:13701, Rhea:RHEA-COMP:13702, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.26;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[tau protein]-L-threonine + ATP = [tau protein]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:53904, Rhea:RHEA-COMP:13703, Rhea:RHEA-COMP:13704, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.26;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation on Thr-174 by STK11/LKB1.

Enzyme Numbers (IUBMB) for BRSK2 Gene

Phenotypes From GWAS Catalog for BRSK2 Gene

Gene Ontology (GO) - Molecular Function for BRSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 14976552
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity ISS --
GO:0005524 ATP binding IEA,IDA 14976552
genes like me logo Genes that share ontologies with BRSK2: view
genes like me logo Genes that share phenotypes with BRSK2: view

Animal Models for BRSK2 Gene

MGI Knock Outs for BRSK2:

Animal Model Products

  • Taconic Biosciences Mouse Models for BRSK2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRSK2

Clone Products

  • Addgene plasmids for BRSK2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BRSK2 Gene

Localization for BRSK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRSK2 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Endoplasmic reticulum. Note=Detected at centrosomes during mitosis. Localizes to the endoplasmic reticulum in response to stress caused by tunicamycin.

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 BRSK2 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
nucleus 4
cytosol 2
plasma membrane 0
extracellular 0
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA,IDA 22713462
GO:0005783 endoplasmic reticulum IDA 23907667
GO:0005813 centrosome IBA,IDA 23029325
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with BRSK2: view

Pathways & Interactions for BRSK2 Gene

genes like me logo Genes that share pathways with BRSK2: view

Pathways by source for BRSK2 Gene

1 BioSystems pathway for BRSK2 Gene
1 Qiagen pathway for BRSK2 Gene
  • Sperm Motility
3 Cell Signaling Technology pathways for BRSK2 Gene

SIGNOR curated interactions for BRSK2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for BRSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IMP 23029325
GO:0006468 protein phosphorylation IDA,IEA 14976552
GO:0006887 exocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with BRSK2: view

Drugs & Compounds for BRSK2 Gene

(2) Drugs for BRSK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for BRSK2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with BRSK2: view

Transcripts for BRSK2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRSK2

Clone Products

  • Addgene plasmids for BRSK2

Alternative Splicing Database (ASD) splice patterns (SP) for BRSK2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b · 19c · 19d
SP1: - - -
SP2:
SP3:
SP4: - - -
SP5: - - -
SP6: -
SP7: - -
SP8:
SP9: -

Relevant External Links for BRSK2 Gene

GeneLoc Exon Structure for
BRSK2
ECgene alternative splicing isoforms for
BRSK2

Expression for BRSK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRSK2 Gene

mRNA differential expression in normal tissues according to GTEx for BRSK2 Gene

This gene is overexpressed in Brain - Cerebellum (x6.2), Brain - Cerebellar Hemisphere (x5.7), Brain - Cortex (x4.9), and Pancreas (x4.9).

Protein differential expression in normal tissues from HIPED for BRSK2 Gene

This gene is overexpressed in Lung (27.9), Frontal cortex (16.7), Fetal Brain (10.2), and Plasma (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRSK2 Gene



Protein tissue co-expression partners for BRSK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRSK2 Gene:

BRSK2

SOURCE GeneReport for Unigene cluster for BRSK2 Gene:

Hs.170819

mRNA Expression by UniProt/SwissProt for BRSK2 Gene:

Q8IWQ3-BRSK2_HUMAN
Tissue specificity: Detected in pancreas islets (at protein level).

Evidence on tissue expression from TISSUES for BRSK2 Gene

  • Nervous system(4.7)
  • Eye(4.2)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with BRSK2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRSK2 Gene

Orthologs for BRSK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRSK2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BRSK2 33 32
  • 92.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BRSK2 33 32
  • 91.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Brsk2 17 33 32
  • 89.18 (n)
rat
(Rattus norvegicus)
Mammalia Brsk2 32
  • 88.83 (n)
oppossum
(Monodelphis domestica)
Mammalia BRSK2 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRSK2 33 32
  • 79.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRSK2 33
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brsk2 32
  • 75.21 (n)
zebrafish
(Danio rerio)
Actinopterygii BRSK2 (2 of 2) 33
  • 83 (a)
OneToMany
BRSK2 (1 of 2) 33
  • 82 (a)
OneToMany
LOC100334759 32
  • 77.1 (n)
Dr.28076 32
fruit fly
(Drosophila melanogaster)
Insecta sff 33 32
  • 60.66 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012244 32
  • 56.24 (n)
worm
(Caenorhabditis elegans)
Secernentea sad-1 33 32
  • 57.02 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KCC4 33
  • 21 (a)
ManyToMany
GIN4 33
  • 19 (a)
ManyToMany
HSL1 33
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 52 (a)
OneToMany
Species where no ortholog for BRSK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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 BRSK2 Gene

ENSEMBL:
Gene Tree for BRSK2 (if available)
TreeFam:
Gene Tree for BRSK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BRSK2: view image

Paralogs for BRSK2 Gene

genes like me logo Genes that share paralogs with BRSK2: view

Variants for BRSK2 Gene

Sequence variations from dbSNP and Humsavar for BRSK2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1554906003 uncertain-significance, not provided 1,445,382(+) GACGTG/GACGTGACGTG 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1135402760 uncertain-significance, not specified 1,451,405(+) AGAG/AG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1198947199 uncertain-significance, not specified 1,456,609(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1554904159 uncertain-significance, not specified 1,442,607(+) G/A splice_donor_variant
rs1554904772 uncertain-significance, not specified 1,443,490(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BRSK2 Gene

Variant ID Type Subtype PubMed ID
dgv1014n100 CNV gain 25217958
dgv10n68 CNV loss 17160897
dgv128e201 CNV deletion 23290073
dgv129e201 CNV deletion 23290073
dgv130e201 CNV deletion 23290073
dgv1537n54 CNV loss 21841781
dgv1550n54 CNV loss 21841781
esv1010049 CNV gain 20482838
esv1076319 CNV deletion 17803354
esv1341351 CNV deletion 17803354
esv1644887 CNV insertion 17803354
esv1733198 CNV deletion 17803354
esv1962941 CNV deletion 18987734
esv23309 CNV gain+loss 19812545
esv23631 CNV gain 19812545
esv24637 CNV loss 19812545
esv2657570 CNV deletion 23128226
esv2669189 CNV deletion 23128226
esv2677742 CNV deletion 23128226
esv2743878 CNV deletion 23290073
esv2743912 CNV deletion 23290073
esv2743913 CNV deletion 23290073
esv2743914 CNV deletion 23290073
esv2743915 CNV deletion 23290073
esv2743916 CNV deletion 23290073
esv2743918 CNV deletion 23290073
esv2743926 CNV deletion 23290073
esv2743927 CNV deletion 23290073
esv2743928 CNV deletion 23290073
esv2743929 CNV deletion 23290073
esv2743930 CNV deletion 23290073
esv2743932 CNV deletion 23290073
esv2743933 CNV deletion 23290073
esv2743934 CNV deletion 23290073
esv2743935 CNV deletion 23290073
esv2743936 CNV deletion 23290073
esv2743937 CNV deletion 23290073
esv3412857 CNV insertion 20981092
esv3547197 CNV deletion 23714750
esv3625111 CNV gain 21293372
esv988117 CNV deletion 20482838
nsv1069995 CNV deletion 25765185
nsv1069996 CNV deletion 25765185
nsv1070927 CNV deletion 25765185
nsv1118201 CNV deletion 24896259
nsv1126281 CNV deletion 24896259
nsv1143530 CNV deletion 24896259
nsv38732 CNV insertion 16902084
nsv39243 CNV deletion 16902084
nsv467642 CNV loss 19166990
nsv469925 CNV loss 18288195
nsv512202 CNV loss 21212237
nsv514599 CNV gain 21397061
nsv552981 CNV loss 21841781
nsv552982 CNV loss 21841781
nsv552983 CNV gain 21841781
nsv552984 CNV gain 21841781
nsv552985 CNV loss 21841781
nsv7639 CNV deletion 18451855
nsv820797 CNV deletion 20802225
nsv825696 CNV gain 20364138
nsv951279 CNV deletion 24416366

Variation tolerance for BRSK2 Gene

Residual Variation Intolerance Score: 3.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRSK2 Gene

Human Gene Mutation Database (HGMD)
BRSK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRSK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRSK2 Gene

Disorders for BRSK2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BRSK2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
paraneoplastic limbic encephalitis
limbic encephalitis
sporotrichosis
  • rose gardener's disease
- elite association - COSMIC cancer census association via MalaCards
Search BRSK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BRSK2

genes like me logo Genes that share disorders with BRSK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRSK2 Gene

Publications for BRSK2 Gene

  1. Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta. (PMID: 9929968) Miura K … Ishimaru T (Journal of human genetics 1999) 2 3 4 56
  2. Synapses of amphids defective (SAD-A) kinase promotes glucose-stimulated insulin secretion through activation of p21-activated kinase (PAK1) in pancreatic β-Cells. (PMID: 22669945) Nie J … Shi Y (The Journal of biological chemistry 2012) 3 4 56
  3. Phosphorylation of microtubule-associated protein tau by AMPK-related kinases. (PMID: 21985311) Yoshida H … Goedert M (Journal of neurochemistry 2012) 3 4 56
  4. Brain-selective kinase 2 (BRSK2) phosphorylation on PCTAIRE1 negatively regulates glucose-stimulated insulin secretion in pancreatic β-cells. (PMID: 22798068) Chen XY … Yu L (The Journal of biological chemistry 2012) 3 4 56
  5. APC/C(Cdh1) targets brain-specific kinase 2 (BRSK2) for degradation via the ubiquitin-proteasome pathway. (PMID: 23029325) Li R … Yu L (PloS one 2012) 3 4 56

Products for BRSK2 Gene

Sources for BRSK2 Gene