• Gene id: 9024

Gene Summary

• Gene Symbol: BRSK2   Gene   UCSC   Ensembl
• Aliases: C11orf7, PEN11B, SAD1, SADA, STK29
• Gene name: BR serine/threonine kinase 2
• Alternate names: serine/threonine-protein kinase BRSK2, 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, testi,
• Gene location: 11p15.5 (1389898: 1462688)     Exons: 25     NC_000011.10
• OMIM: 609236

Protein Summary

• Protein general information: Q8IWQ3  
  • Name: Serine/threonine protein kinase BRSK2 (EC 2.7.11.1) (Brain selective kinase 2) (EC 2.7.11.26) (Brain specific serine/threonine protein kinase 2) (BR serine/threonine protein kinase 2) (Serine/threonine protein kinase 29) (Serine/threonine protein kinase S
  • Length: 736  
  • Mass: 81,633
• Sequence:

  MTSTGKDGGAQHAQYVGPYRLEKTLGKGQTGLVKLGVHCVTCQKVAIKIVNREKLSESVLMKVEREIAILKLIEH
  PHVLKLHDVYENKKYLYLVLEHVSGGELFDYLVKKGRLTPKEARKFFRQIISALDFCHSHSICHRDLKPENLLLD
  EKNNIRIADFGMASLQVGDSLLETSCGSPHYACPEVIRGEKYDGRKADVWSCGVILFALLVGALPFDDDNLRQLL
  EKVKRGVFHMPHFIPPDCQSLLRGMIEVDAARRLTLEHIQKHIWYIGGKNEPEPEQPIPRKVQIRSLPSLEDIDP
  DVLDSMHSLGCFRDRNKLLQDLLSEEENQEKMIYFLLLDRKERYPSQEDEDLPPRNEIDPPRKRVDSPMLNRHGK
  RRPERKSMEVLSVTDGGSPVPARRAIEMAQHGQRSRSISGASSGLSTSPLSSPRVTPHPSPRGSPLPTPKGTPVH
  TPKESPAGTPNPTPPSSPSVGGVPWRARLNSIKNSFLGSPRFHRRKLQVPTPEEMSNLTPESSPELAKKSWFGNF
  ISLEKEEQIFVVIKDKPLSSIKADIVHAFLSIPSLSHSVISQTSFRAEYKATGGPAVFQKPVKFQVDITYTEGGE
  AQKENGIYSVTFTLLSGPSRRFKRVVETIQAQLLSTHDPPAAQHLSDTTNCMEMMTGRLSKCGSPLSNFFDVIKQ
  LFSDEKNGQAAQAPSTPAKRSAHGPLGDSAAAGPGPGGDAEYPTGKDTAKMGPPTARREQP

• Structural information:
  • Protein Domains: Protein (19-270)
    UBA. (297-339)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • STRING: ENSP00000310697
• Other Databases: GeneCards:  BRSK2  Malacards:  BRSK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007409	axonogenesis	ISS	biological process
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030010	establishment of cell polarity	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0036503	ERAD pathway	IMP	biological process
GO:0043462	regulation of ATPase activity	NAS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0050321	tau-protein kinase activity	ISS	molecular function
GO:0050321	tau-protein kinase activity	IDA	molecular function
GO:0051117	ATPase binding	IDA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0060590	ATPase regulator activity	NAS	molecular function
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:1904152	regulation of retrograde protein transport, ER to cytosol	IC	biological process
GO:1904152	regulation of retrograde protein transport, ER to cytosol	NAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007409	axonogenesis	ISS	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0030010	establishment of cell polarity	ISS	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0036503	ERAD pathway	IMP	biological process
GO:0043462	regulation of ATPase activity	NAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0050321	tau-protein kinase activity	IEA	molecular function
GO:0050321	tau-protein kinase activity	IEA	molecular function
GO:0050321	tau-protein kinase activity	ISS	molecular function
GO:0050321	tau-protein kinase activity	IDA	molecular function
GO:0051117	ATPase binding	IDA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0060590	ATPase regulator activity	NAS	molecular function
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:1904152	regulation of retrograde protein transport, ER to cytosol	IC	biological process
GO:1904152	regulation of retrograde protein transport, ER to cytosol	NAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007409	axonogenesis	ISS	biological process
GO:0030010	establishment of cell polarity	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0036503	ERAD pathway	IMP	biological process
GO:0043462	regulation of ATPase activity	NAS	biological process
GO:0050321	tau-protein kinase activity	ISS	molecular function
GO:0050321	tau-protein kinase activity	IDA	molecular function
GO:0051117	ATPase binding	IDA	molecular function
GO:0060590	ATPase regulator activity	NAS	molecular function
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:1904152	regulation of retrograde protein transport, ER to cytosol	IC	biological process
GO:1904152	regulation of retrograde protein transport, ER to cytosol	NAS	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 24524831
Spermatogenesis defects	MIK: 24524831
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 24524831
Spermatogenetic defects	MIK: 24524831
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24524831	Male infertility, Spermatogenetic defects			40 (30 infertile men with normal CFTR and AZF tests and karyotype, 10 fertile male controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray