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Aliases for BRSK2 Gene

Aliases for BRSK2 Gene

  • BR Serine/Threonine Kinase 2 2 3
  • PEN11B 3 4 6
  • 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 63
  • C11orf7 3 4
  • STK29 3 4
  • SAD1 3 6
  • SADA 3 4
  • Serine/Threonine-Protein Kinase BRSK2 3
  • Chromsosome 11 Open Reading Frame 7 2
  • Serine/Threonine Kinase 29 2
  • Protein Kinase SAD1B 3
  • EC 2.7.11.26 4
  • EC 2.7.11 63

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. Among its related pathways are Cell Cycle / Checkpoint Control and Glucose / Energy Metabolism. GO annotations related to this gene include protein serine/threonine kinase activity and magnesium ion binding. An important paralog of this gene is MARK4.

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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRSK2 Gene

Genomics for BRSK2 Gene

Regulatory Elements for BRSK2 Gene

Genomic Location for BRSK2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for BRSK2 Gene at MOPED

Selected DME Specific Peptides for BRSK2 Gene

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 for BRSK2 Gene

Gene Families for BRSK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWQ3

UniProtKB/Swiss-Prot:

BRSK2_HUMAN :
  • Q8IWQ3
Domain:
  • The KEN box motif is required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.
  • Contains 1 protein kinase domain.
  • Contains 1 UBA domain.
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:0000287 magnesium ion binding IDA 14976552
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 14976552
GO:0004713 protein tyrosine kinase activity --
GO:0005515 protein binding --
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:

miRNA for BRSK2 Gene

miRTarBase miRNAs that target BRSK2

No data available for Transcription Factor Targeting 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
Jensen Localization Image for BRSK2 Gene COMPARTMENTS Subcellular localization image for BRSK2 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 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 22713462
GO:0005783 endoplasmic reticulum IEA --
GO:0005813 centrosome IDA 23029325
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with BRSK2: view

Pathways for BRSK2 Gene

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

Pathways by source for BRSK2 Gene

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

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 14976552
GO:0006887 exocytosis IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007409 axonogenesis ISS --
genes like me logo Genes that share ontologies with BRSK2: view

Compounds for BRSK2 Gene

(3) HMDB Compounds for BRSK2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
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:

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 for BRSK2 Gene

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

This gene is overexpressed in Brain - Cerebellum (6.2), Brain - Cerebellar Hemisphere (5.7), Brain - Cortex (4.9), and Pancreas (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BRSK2 Gene

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).
genes like me logo Genes that share expressions with BRSK2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 92.02 (n)
  • 97.45 (a)
BRSK2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRSK2 35
  • 91.6 (n)
  • 98.84 (a)
BRSK2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brsk2 35
  • 89.18 (n)
  • 98.33 (a)
Brsk2 16
Brsk2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRSK2 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brsk2 35
  • 88.83 (n)
  • 97.7 (a)
chicken
(Gallus gallus)
Aves BRSK2 35
  • 79.97 (n)
  • 93.17 (a)
BRSK2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRSK2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brsk2 35
  • 75.21 (n)
  • 86.06 (a)
zebrafish
(Danio rerio)
Actinopterygii BRSK2 (1 of 2) 36
  • 82 (a)
OneToMany
BRSK2 (2 of 2) 36
  • 83 (a)
OneToMany
Dr.28076 35
LOC100334759 35
  • 77.1 (n)
  • 91.61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012244 35
  • 56.24 (n)
  • 52.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta sff 35
  • 60.66 (n)
  • 62.76 (a)
sff 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sad-1 35
  • 57.02 (n)
  • 64.64 (a)
sad-1 36
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GIN4 36
  • 19 (a)
ManyToMany
HSL1 36
  • 16 (a)
ManyToMany
KCC4 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for BRSK2:
  • 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 MAF
rs1105398 -- 1,399,294(-) ACCAT(C/T)CTATC intron-variant
rs1105470 -- 1,404,415(+) CCAGG(A/G)CAGAC intron-variant
rs1109746 -- 1,424,005(-) GCCCC(A/G)GATTT intron-variant
rs1110029 -- 1,404,146(-) GCTGG(A/G)GGTGC intron-variant
rs1316316 -- 1,461,857(-) ACCGT(C/T)TTTAG utr-variant-3-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
esv2743878 CNV Deletion 23290073
esv2669189 CNV Deletion 23128226
dgv963n71 CNV Loss 21882294
dgv968n71 CNV Loss 21882294
dgv969n71 CNV Loss 21882294
dgv971n71 CNV Loss 21882294
dgv973n71 CNV Loss 21882294
nsv896691 CNV Loss 21882294
nsv896692 CNV Loss 21882294
dgv10n68 CNV Loss 17160897
nsv469925 CNV Loss 18288195
nsv467642 CNV Loss 19166990
dgv974n71 CNV Loss 21882294
esv2743912 CNV Deletion 23290073
esv2743913 CNV Deletion 23290073
esv2743914 CNV Deletion 23290073
dgv975n71 CNV Loss 21882294
esv2743915 CNV Deletion 23290073
nsv38732 CNV Insertion 16902084
esv1644887 CNV Insertion 17803354
nsv825696 CNV Gain 20364138
esv2743916 CNV Deletion 23290073
nsv39243 CNV Loss 16902084
dgv147e201 CNV Deletion 23290073
esv2743918 CNV Deletion 23290073
dgv148e201 CNV Deletion 23290073
dgv149e201 CNV Deletion 23290073
esv23631 CNV Gain 19812545
esv2657570 CNV Deletion 23128226
esv988117 CNV Deletion 20482838
esv1076319 CNV Deletion 17803354
esv2743926 CNV Deletion 23290073
esv1962941 CNV Deletion 18987734
esv2743927 CNV Deletion 23290073
esv24637 CNV Loss 19812545
dgv976n71 CNV Loss 21882294
nsv7639 CNV Loss 18451855
esv2743928 CNV Deletion 23290073
esv2743929 CNV Deletion 23290073
nsv820797 CNV Deletion 20802225
esv23309 CNV Gain+Loss 19812545
nsv512202 CNV Loss 21212237
nsv514599 CNV Complex 21397061
esv2743930 CNV Deletion 23290073
esv2743932 CNV Deletion 23290073
esv1010049 CNV Gain 20482838
esv1341351 CNV Deletion 17803354
nsv896707 CNV Loss 21882294
esv2743933 CNV Deletion 23290073
esv2743934 CNV Deletion 23290073
esv2743935 CNV Deletion 23290073
esv2743936 CNV Deletion 23290073
esv2677742 CNV Deletion 23128226
esv2743937 CNV Deletion 23290073
esv1733198 CNV Deletion 17803354

Relevant External Links for BRSK2 Gene

HapMap Linkage Disequilibrium report
BRSK2
Human Gene Mutation Database (HGMD)
BRSK2

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

Disorders for BRSK2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for BRSK2 Gene including...

Search for BRSK2 Gene in MalaCards »

Relevant External Links for BRSK2

Genetic Association Database (GAD)
BRSK2
genes like me logo Genes that share disorders with BRSK2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F. … Valle G. (Yeast 2001) 3 4
  3. BR serine/threonine kinase 2: a new autoantigen in paraneoplastic limbic encephalitis. (PMID: 16165222) Sabater L. … Graus F. (J. Neuroimmunol. 2005) 3 23
  4. A HhaI/BstUI polymorphism in a novel gene at human chromosome 11p15.5. (PMID: 9852686) Miura K. … Jinno Y. (J. Hum. Genet. 1998) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for BRSK2 Gene

  • Addgene plasmids for BRSK2

Sources for BRSK2 Gene

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