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

Gene ID: 9024, updated on 5-Mar-2024

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; AllianceGenome:HGNC:11405
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; SAD-A; STK29; PEN11B; C11orf7
Summary
Enables several functions, including ATP binding activity; ATPase binding activity; and protein kinase activity. Involved in several processes, including cellular protein metabolic process; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 8.8), pancreas (RPKM 3.6) and 2 other tissues See more
Orthologs
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Genomic context

Location:
11p15.5
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1389934..1462689)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1461201..1537121)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1411164..1483919)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1369804-1370356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1374637-1375384 Neighboring gene long intergenic non-protein coding RNA 2689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1380465-1380966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1380967-1381466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3054 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:1405373-1405546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3055 Neighboring gene MPRA-validated peak1160 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1458078-1458816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1469339-1469838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1474249-1474958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1479210-1479772 Neighboring gene MOB kinase activator 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1520757-1521279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1528327-1529160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1529995-1530826 Neighboring gene uncharacterized LOC124902607

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

EBI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ41362

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables tau protein binding NAS
Non-traceable Author Statement
more info
PubMed 
enables tau-protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables tau-protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tau-protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables tau-protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in establishment of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule cytoskeleton organization involved in establishment of planar polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of ATP-dependent activity NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of retrograde protein transport, ER to cytosol IC
Inferred by Curator
more info
PubMed 
involved_in regulation of retrograde protein transport, ER to cytosol NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of synaptic vesicle clustering TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in distal axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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_047283806.1
XP_047283807.1
XP_047283808.1
XP_047283809.1
XP_047283810.1
XP_054189097.1
XP_054189098.1
XP_054189099.1
XP_054189100.1
XP_054189101.1
XP_054189102.1
XP_054189103.1
XP_054189104.1
XP_054189105.1
XP_054189106.1
XP_054189107.1
XP_054189108.1
XP_054189109.1
XP_054189110.1
XP_054189111.1
XP_054189112.1
XP_054226408.1
XP_054226409.1
XP_054226410.1
XP_054226411.1
XP_054226412.1
XP_054226413.1
XP_054226414.1
XP_054226415.1
XP_054226416.1
XP_054226417.1
XP_054226418.1
XP_054226419.1
XP_054226420.1
XP_054226421.1
XP_054226422.1
XP_054226423.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    B3KVE9, E9PLM7, O60843, O95099, Q5J5B4, Q6ZMQ4, Q8IWQ3, Q8TB60
    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
    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/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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017018533.2XP_016874022.1  serine/threonine-protein kinase BRSK2 isoform X1

  2. XM_047427850.1XP_047283806.1  serine/threonine-protein kinase BRSK2 isoform X3

  3. XM_006718374.3XP_006718437.1  serine/threonine-protein kinase BRSK2 isoform X5

    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
  4. XM_017018536.2XP_016874025.1  serine/threonine-protein kinase BRSK2 isoform X2

  5. XM_047427851.1XP_047283807.1  serine/threonine-protein kinase BRSK2 isoform X4

  6. XM_005253218.4XP_005253275.1  serine/threonine-protein kinase BRSK2 isoform X6

    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
  7. XM_017018532.2XP_016874021.1  serine/threonine-protein kinase BRSK2 isoform X7

  8. XM_017018534.2XP_016874023.1  serine/threonine-protein kinase BRSK2 isoform X8

  9. XM_017018537.2XP_016874026.1  serine/threonine-protein kinase BRSK2 isoform X10

  10. XM_006718376.3XP_006718439.1  serine/threonine-protein kinase BRSK2 isoform X11

    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
  11. XM_047427852.1XP_047283808.1  serine/threonine-protein kinase BRSK2 isoform X12

  12. XM_047427853.1XP_047283809.1  serine/threonine-protein kinase BRSK2 isoform X15

  13. XM_017018535.2XP_016874024.1  serine/threonine-protein kinase BRSK2 isoform X9

  14. XM_011520461.3XP_011518763.1  serine/threonine-protein kinase BRSK2 isoform X13

    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
  15. XM_011520462.3XP_011518764.1  serine/threonine-protein kinase BRSK2 isoform X14

    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
  16. XM_047427854.1XP_047283810.1  serine/threonine-protein kinase BRSK2 isoform X16

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791792.1 Reference GRCh38.p14 PATCHES

    Range
    124200..196955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333123.1XP_054189098.1  serine/threonine-protein kinase BRSK2 isoform X1

  2. XM_054333128.1XP_054189103.1  serine/threonine-protein kinase BRSK2 isoform X3

  3. XM_054333131.1XP_054189106.1  serine/threonine-protein kinase BRSK2 isoform X5

  4. XM_054333126.1XP_054189101.1  serine/threonine-protein kinase BRSK2 isoform X2

  5. XM_054333129.1XP_054189104.1  serine/threonine-protein kinase BRSK2 isoform X4

  6. XM_054333135.1XP_054189110.1  serine/threonine-protein kinase BRSK2 isoform X6

  7. XM_054333122.1XP_054189097.1  serine/threonine-protein kinase BRSK2 isoform X17

  8. XM_054333124.1XP_054189099.1  serine/threonine-protein kinase BRSK2 isoform X18

  9. XM_054333125.1XP_054189100.1  serine/threonine-protein kinase BRSK2 isoform X19

  10. XM_054333127.1XP_054189102.1  serine/threonine-protein kinase BRSK2 isoform X20

  11. XM_054333130.1XP_054189105.1  serine/threonine-protein kinase BRSK2 isoform X21

  12. XM_054333132.1XP_054189107.1  serine/threonine-protein kinase BRSK2 isoform X22

  13. XM_054333133.1XP_054189108.1  serine/threonine-protein kinase BRSK2 isoform X23

  14. XM_054333134.1XP_054189109.1  serine/threonine-protein kinase BRSK2 isoform X24

  15. XM_054333136.1XP_054189111.1  serine/threonine-protein kinase BRSK2 isoform X25

  16. XM_054333137.1XP_054189112.1  serine/threonine-protein kinase BRSK2 isoform X26

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1461201..1537121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370434.1XP_054226409.1  serine/threonine-protein kinase BRSK2 isoform X1

  2. XM_054370439.1XP_054226414.1  serine/threonine-protein kinase BRSK2 isoform X3

  3. XM_054370442.1XP_054226417.1  serine/threonine-protein kinase BRSK2 isoform X5

  4. XM_054370437.1XP_054226412.1  serine/threonine-protein kinase BRSK2 isoform X2

  5. XM_054370440.1XP_054226415.1  serine/threonine-protein kinase BRSK2 isoform X4

  6. XM_054370446.1XP_054226421.1  serine/threonine-protein kinase BRSK2 isoform X6

  7. XM_054370433.1XP_054226408.1  serine/threonine-protein kinase BRSK2 isoform X27

  8. XM_054370435.1XP_054226410.1  serine/threonine-protein kinase BRSK2 isoform X28

  9. XM_054370436.1XP_054226411.1  serine/threonine-protein kinase BRSK2 isoform X29

  10. XM_054370438.1XP_054226413.1  serine/threonine-protein kinase BRSK2 isoform X30

  11. XM_054370441.1XP_054226416.1  serine/threonine-protein kinase BRSK2 isoform X31

  12. XM_054370443.1XP_054226418.1  serine/threonine-protein kinase BRSK2 isoform X32

  13. XM_054370444.1XP_054226419.1  serine/threonine-protein kinase BRSK2 isoform X33

  14. XM_054370445.1XP_054226420.1  serine/threonine-protein kinase BRSK2 isoform X34

  15. XM_054370447.1XP_054226422.1  serine/threonine-protein kinase BRSK2 isoform X35

  16. XM_054370448.1XP_054226423.1  serine/threonine-protein kinase BRSK2 isoform X36