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BRSK2 BR serine/threonine kinase 2 [ Homo sapiens (human) ]

Gene ID: 9024, updated on 22-Aug-2020

Summary

Official Symbol
BRSK2provided by HGNC
Official Full Name
BR serine/threonine kinase 2provided by HGNC
Primary source
HGNC:HGNC:11405
See related
Ensembl:ENSG00000174672 MIM:609236
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAD1; SADA; STK29; PEN11B; C11orf7
Expression
Biased expression in brain (RPKM 8.8), pancreas (RPKM 3.6) and 2 other tissues See more
Orthologs

Genomic context

See BRSK2 in Genome Data Viewer
Location:
11p15.5
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1389934..1462689)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1411129..1483919)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene TOLLIP antisense RNA 1 (head to head) Neighboring gene long intergenic non-protein coding RNA 2689 Neighboring gene uncharacterized LOC107984298 Neighboring gene uncharacterized LOC105376514 Neighboring gene MOB kinase activator 2 Neighboring gene KRTAP5-1/KRTAP5-2 antisense RNA 1 Neighboring gene dual specificity phosphatase 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41362

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
tau protein binding NAS
Non-traceable Author Statement
more info
PubMed 
tau-protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tau-protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
tau-protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
tau-protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
exocytosis IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization involved in establishment of planar polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of retrograde protein transport, ER to cytosol IC
Inferred by Curator
more info
PubMed 
regulation of retrograde protein transport, ER to cytosol NAS
Non-traceable Author Statement
more info
PubMed 
regulation of synaptic vesicle clustering TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
distal axon ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase BRSK2
Names
BR serine/threonine-protein kinase 2
brain-selective kinase 2
brain-specific serine/threonine-protein kinase 2
protein kinase SAD1B
serine/threonine-protein kinase 29
serine/threonine-protein kinase SAD-A
testicular tissue protein Li 30
NP_001243556.1
NP_001243558.1
NP_001243559.1
NP_001269147.1
NP_003948.2
XP_005253275.1
XP_006718437.1
XP_006718439.1
XP_011518763.1
XP_011518764.1
XP_016874021.1
XP_016874022.1
XP_016874023.1
XP_016874024.1
XP_016874025.1
XP_016874026.1
XP_016874027.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256627.2NP_001243556.1  serine/threonine-protein kinase BRSK2 isoform 1

    See identical proteins and their annotated locations for NP_001243556.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC091196, AC136297, AF533879, AK131534
    Consensus CDS
    CCDS58107.1
    UniProtKB/Swiss-Prot
    Q8IWQ3
    Related
    ENSP00000432000.1, ENST00000528841.6
    Conserved Domains (3) summary
    smart00220
    Location:19269
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:297350
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:17270
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  2. NM_001256629.2NP_001243558.1  serine/threonine-protein kinase BRSK2 isoform 3

    See identical proteins and their annotated locations for NP_001243558.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC091196, AC136297, AF533877, AK131534
    Consensus CDS
    CCDS58106.1
    UniProtKB/Swiss-Prot
    Q8IWQ3
    UniProtKB/TrEMBL
    A0A024RCE9
    Related
    ENSP00000431152.1, ENST00000531197.5
    Conserved Domains (2) summary
    cd14340
    Location:297350
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:17270
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  3. NM_001256630.1NP_001243559.1  serine/threonine-protein kinase BRSK2 isoform 4

    See identical proteins and their annotated locations for NP_001243559.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, initiates translation at an alternate start codon and uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC091196, AK131534
    Consensus CDS
    CCDS58108.1
    UniProtKB/Swiss-Prot
    Q8IWQ3
    Related
    ENSP00000371614.1, ENST00000382179.5
    Conserved Domains (3) summary
    smart00220
    Location:77315
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:343396
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:62316
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  4. NM_001282218.2NP_001269147.1  serine/threonine-protein kinase BRSK2 isoform 5

    See identical proteins and their annotated locations for NP_001269147.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in both UTRs and has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 5) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC091196, AK122851, AK297211
    Consensus CDS
    CCDS60696.1
    UniProtKB/Swiss-Prot
    Q8IWQ3
    UniProtKB/TrEMBL
    B4DLY3
    Related
    ENSP00000433235.1, ENST00000528710.5
    Conserved Domains (2) summary
    cd14340
    Location:237290
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:1210
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  5. NM_003957.4NP_003948.2  serine/threonine-protein kinase BRSK2 isoform 2

    See identical proteins and their annotated locations for NP_003948.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC091196, AC136297, AY166857, DA059153
    Consensus CDS
    CCDS41590.1
    UniProtKB/Swiss-Prot
    Q8IWQ3
    UniProtKB/TrEMBL
    A0A140VJF6
    Related
    ENSP00000310697.9, ENST00000308219.13
    Conserved Domains (2) summary
    cd14340
    Location:297350
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:17270
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2

RNA

  1. NR_046331.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains two alternate exons in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC091196, AC136297, AF533880, AK131534

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    1389934..1462689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018533.1XP_016874022.1  serine/threonine-protein kinase BRSK2 isoform X2

  2. XM_006718374.2XP_006718437.1  serine/threonine-protein kinase BRSK2 isoform X8

    Conserved Domains (3) summary
    smart00220
    Location:19269
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:297350
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:17270
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  3. XM_017018536.1XP_016874025.1  serine/threonine-protein kinase BRSK2 isoform X5

  4. XM_005253218.3XP_005253275.1  serine/threonine-protein kinase BRSK2 isoform X11

    Conserved Domains (3) summary
    smart00220
    Location:19269
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:297350
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:17270
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  5. XM_017018532.1XP_016874021.1  serine/threonine-protein kinase BRSK2 isoform X1

  6. XM_017018534.1XP_016874023.1  serine/threonine-protein kinase BRSK2 isoform X3

  7. XM_017018537.1XP_016874026.1  serine/threonine-protein kinase BRSK2 isoform X6

  8. XM_006718376.2XP_006718439.1  serine/threonine-protein kinase BRSK2 isoform X7

    See identical proteins and their annotated locations for XP_006718439.1

    Conserved Domains (3) summary
    smart00220
    Location:2209
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:237290
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:1210
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  9. XM_017018535.1XP_016874024.1  serine/threonine-protein kinase BRSK2 isoform X4

  10. XM_011520461.2XP_011518763.1  serine/threonine-protein kinase BRSK2 isoform X9

    Conserved Domains (3) summary
    smart00220
    Location:2209
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:237290
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:1210
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  11. XM_011520462.2XP_011518764.1  serine/threonine-protein kinase BRSK2 isoform X10

    Conserved Domains (3) summary
    smart00220
    Location:2209
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14340
    Location:237290
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:1210
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2
  12. XM_017018538.1XP_016874027.1  serine/threonine-protein kinase BRSK2 isoform X12

RNA

  1. XR_242831.2 RNA Sequence

  2. XR_001748026.2 RNA Sequence

  3. XR_930926.2 RNA Sequence

  4. XR_001748025.1 RNA Sequence

  5. XR_002957207.1 RNA Sequence

  6. XR_930925.1 RNA Sequence

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