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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 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 61
  • C11orf7 3 4
  • PEN11B 3 4
  • STK29 3 4
  • SADA 3 4
  • Serine/Threonine-Protein Kinase BRSK2 3
  • 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 61
  • 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 Limbic Encephalitis and Pleural Tuberculosis. Among its related pathways are Sweet Taste Signaling and Neuroscience. 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 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 endoplasmatic reticulum (ER) stress.

Gene Wiki entry for BRSK2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRSK2 Gene

Genomics for BRSK2 Gene

Regulatory Elements for BRSK2 Gene

Enhancers for BRSK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G001301 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.4 -83.1 -83084 10.7 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 TOLLIP BRSK2 TOLLIP-AS1 DUSP8 LOC105376512
GH11G001297 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -90.8 -90797 3.9 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 ZHX2 MIER2 DRD4 ENSG00000255142 ENSG00000255158 BRSK2 TOLLIP-AS1 TOLLIP DUSP8 LOC105376512 PIR51627 GC11M001275
GH11G001390 1.2 ENCODE dbSUPER 8.8 +1.0 991 3.2 HDGF FUS DEAF1 SIN3A RAD21 GLIS2 YY2 NFYC ZNF398 REST BRSK2 TOLLIP-AS1 GC11P001391
GH11G001287 1.1 dbSUPER 8 -98.9 -98868 6.3 HNRNPUL1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 BRSK2 TOLLIP-AS1 ENSG00000255237 LOC105376512 GC11M001275 PIR51627
GH11G001394 1 dbSUPER 8.2 +7.6 7587 5.2 ARNT SIN3A ZNF2 ZNF302 ZNF143 ZNF416 KLF7 SP3 NCOA1 TSHZ1 PHRF1 SNORA52 TSPAN4 MOB2 ENSG00000255237 BRSK2 GC11P001391 GC11M001395
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRSK2 on UCSC Golden Path with GeneCards custom track

Promoters for BRSK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035784 1 1001 FUS DEAF1 SIN3A RAD21 GLIS2 YY2 NFYC ZNF398 ZFP69B SMARCA4

Genomic Location for BRSK2 Gene

Chromosome:
11
Start:
1,389,899 bp from pter
End:
1,462,689 bp from pter
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

Protein Domains for BRSK2 Gene

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 CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [tau protein] = ADP + [tau protein] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation on Thr-174 by STK11/LKB1.
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 endoplasmatic reticulum (ER) stress.

Enzyme Numbers (IUBMB) 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 IDA,IEA 14976552
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

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 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BRSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IDA,IEA 22713462
GO:0005783 endoplasmic reticulum IDA 23907667
GO:0005813 centrosome 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

3 Cell Signaling Technology pathways for BRSK2 Gene
1 BioSystems pathway for BRSK2 Gene
1 Qiagen pathway 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
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with BRSK2: view

Transcripts for BRSK2 Gene

Unigene Clusters for BRSK2 Gene

BR serine/threonine kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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(2.1)
genes like me logo Genes that share expression patterns with BRSK2: view

Primer Products

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 34 35
  • 92.02 (n)
dog
(Canis familiaris)
Mammalia BRSK2 34 35
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Brsk2 34 16 35
  • 89.18 (n)
rat
(Rattus norvegicus)
Mammalia Brsk2 34
  • 88.83 (n)
oppossum
(Monodelphis domestica)
Mammalia BRSK2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRSK2 35 34
  • 79.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRSK2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brsk2 34
  • 75.21 (n)
zebrafish
(Danio rerio)
Actinopterygii BRSK2 (2 of 2) 35
  • 83 (a)
OneToMany
BRSK2 (1 of 2) 35
  • 82 (a)
OneToMany
LOC100334759 34
  • 77.1 (n)
Dr.28076 34
fruit fly
(Drosophila melanogaster)
Insecta sff 34 35
  • 60.66 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012244 34
  • 56.24 (n)
worm
(Caenorhabditis elegans)
Secernentea sad-1 34 35
  • 57.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KCC4 35
  • 21 (a)
ManyToMany
GIN4 35
  • 19 (a)
ManyToMany
HSL1 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for BRSK2 Gene

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 Sequence Context AA Info Type
rs1000030983 -- 1,393,275(+) CAGTA(C/T)GTGGA intron-variant
rs1000103324 -- 1,443,001(+) GCACC(A/G)CAGCC intron-variant
rs1000201312 -- 1,396,200(+) TCCAC(C/T)CACGT intron-variant
rs1000209858 -- 1,416,727(+) CCTTC(A/G)GTTTT intron-variant
rs1000211975 -- 1,459,359(+) AGGCA(C/G/T)CCAGC intron-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)

Relevant External Links for BRSK2 Gene

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

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

Disorders for BRSK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BRSK2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
limbic encephalitis
pleural tuberculosis
  • pearly disease
- elite association - COSMIC cancer census association via MalaCards
Search BRSK2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BRSK2

Genetic Association Database (GAD)
BRSK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Hum. Genet. 1999) 2 3 4 64
  2. Phosphorylation of microtubule-associated protein tau by AMPK-related kinases. (PMID: 21985311) Yoshida H. … Goedert M. (J. Neurochem. 2012) 3 4 64
  3. Jab1 interacts with brain-specific kinase 2 (BRSK2) and promotes its degradation in the ubiquitin-proteasome pathway. (PMID: 22609399) Zhou J. … Yu L. (Biochem. Biophys. Res. Commun. 2012) 3 4 64
  4. Synapses of amphids defective (SAD-A) kinase promotes glucose- stimulated insulin secretion through activation of p21-activated kinase (PAK1) in pancreatic beta-Cells. (PMID: 22669945) Nie J. … Shi Y. (J. Biol. Chem. 2012) 3 4 64
  5. BRSK2 is regulated by ER stress in protein level and involved in ER stress-induced apoptosis. (PMID: 22713462) Wang Y. … Yu L. (Biochem. Biophys. Res. Commun. 2012) 3 4 64

Products for BRSK2 Gene

  • Addgene plasmids for BRSK2

Sources for BRSK2 Gene

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