Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9024
Gene name Gene Name - the full gene name approved by the HGNC.	BR serine/threonine kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BRSK2
Synonyms (NCBI Gene) Gene synonyms aliases	C11orf7, PEN11B, SAD-A, SAD1, SADA, STK29
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.5

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1135402760	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554904772	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant

Show/Hide all(130)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029356	hsa-miR-26b-5p	Microarray	19088304
MIRT662463	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT662462	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT662461	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT487644	hsa-miR-3141	PAR-CLIP	20371350
MIRT483135	hsa-miR-4285	PAR-CLIP	20371350
MIRT487643	hsa-miR-5090	PAR-CLIP	20371350
MIRT487642	hsa-miR-6775-5p	PAR-CLIP	20371350
MIRT487641	hsa-miR-4508	PAR-CLIP	20371350
MIRT483134	hsa-miR-1827	PAR-CLIP	20371350
MIRT487640	hsa-miR-6132	PAR-CLIP	20371350
MIRT487639	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT483133	hsa-miR-3960	PAR-CLIP	20371350
MIRT483132	hsa-miR-8072	PAR-CLIP	20371350
MIRT487638	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT487637	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT483129	hsa-miR-4467	PAR-CLIP	20371350
MIRT487636	hsa-miR-6721-5p	PAR-CLIP	20371350
MIRT487635	hsa-miR-486-3p	PAR-CLIP	20371350
MIRT487634	hsa-miR-6727-5p	PAR-CLIP	20371350
MIRT487644	hsa-miR-3141	PAR-CLIP	23592263
MIRT483135	hsa-miR-4285	PAR-CLIP	23592263
MIRT487643	hsa-miR-5090	PAR-CLIP	23592263
MIRT487642	hsa-miR-6775-5p	PAR-CLIP	23592263
MIRT487641	hsa-miR-4508	PAR-CLIP	23592263
MIRT487640	hsa-miR-6132	PAR-CLIP	23592263
MIRT487639	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT483133	hsa-miR-3960	PAR-CLIP	23592263
MIRT483132	hsa-miR-8072	PAR-CLIP	23592263
MIRT483131	hsa-miR-4767	PAR-CLIP	23592263
MIRT487638	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT487637	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT483129	hsa-miR-4467	PAR-CLIP	23592263
MIRT487636	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT487635	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT487634	hsa-miR-6727-5p	PAR-CLIP	23592263
MIRT483135	hsa-miR-4285	PAR-CLIP	23592263
MIRT483134	hsa-miR-1827	PAR-CLIP	23592263
MIRT483133	hsa-miR-3960	PAR-CLIP	23592263
MIRT483132	hsa-miR-8072	PAR-CLIP	23592263
MIRT483131	hsa-miR-4767	PAR-CLIP	23592263
MIRT483129	hsa-miR-4467	PAR-CLIP	23592263
MIRT487638	hsa-miR-1207-5p	PAR-CLIP	27292025
MIRT487644	hsa-miR-3141	PAR-CLIP	27292025
MIRT483133	hsa-miR-3960	PAR-CLIP	27292025
MIRT483135	hsa-miR-4285	PAR-CLIP	27292025
MIRT483129	hsa-miR-4467	PAR-CLIP	27292025
MIRT487641	hsa-miR-4508	PAR-CLIP	27292025
MIRT487637	hsa-miR-4763-3p	PAR-CLIP	27292025
MIRT483131	hsa-miR-4767	PAR-CLIP	27292025
MIRT487635	hsa-miR-486-3p	PAR-CLIP	27292025
MIRT487643	hsa-miR-5090	PAR-CLIP	27292025
MIRT487640	hsa-miR-6132	PAR-CLIP	27292025
MIRT487636	hsa-miR-6721-5p	PAR-CLIP	27292025
MIRT487634	hsa-miR-6727-5p	PAR-CLIP	27292025
MIRT487642	hsa-miR-6775-5p	PAR-CLIP	27292025
MIRT487639	hsa-miR-6836-5p	PAR-CLIP	27292025
MIRT483132	hsa-miR-8072	PAR-CLIP	27292025
MIRT662463	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT662462	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT662461	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT487644	hsa-miR-3141	PAR-CLIP	20371350
MIRT483135	hsa-miR-4285	PAR-CLIP	20371350
MIRT487643	hsa-miR-5090	PAR-CLIP	20371350
MIRT487642	hsa-miR-6775-5p	PAR-CLIP	20371350
MIRT487641	hsa-miR-4508	PAR-CLIP	20371350
MIRT483134	hsa-miR-1827	PAR-CLIP	20371350
MIRT487640	hsa-miR-6132	PAR-CLIP	20371350
MIRT487639	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT483133	hsa-miR-3960	PAR-CLIP	20371350
MIRT483132	hsa-miR-8072	PAR-CLIP	20371350
MIRT487638	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT487637	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT483129	hsa-miR-4467	PAR-CLIP	20371350
MIRT487636	hsa-miR-6721-5p	PAR-CLIP	20371350
MIRT487635	hsa-miR-486-3p	PAR-CLIP	20371350
MIRT487634	hsa-miR-6727-5p	PAR-CLIP	20371350
MIRT487644	hsa-miR-3141	PAR-CLIP	23592263
MIRT483135	hsa-miR-4285	PAR-CLIP	23592263
MIRT487643	hsa-miR-5090	PAR-CLIP	23592263
MIRT487642	hsa-miR-6775-5p	PAR-CLIP	23592263
MIRT487641	hsa-miR-4508	PAR-CLIP	23592263
MIRT487640	hsa-miR-6132	PAR-CLIP	23592263
MIRT487639	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT483133	hsa-miR-3960	PAR-CLIP	23592263
MIRT483132	hsa-miR-8072	PAR-CLIP	23592263
MIRT483131	hsa-miR-4767	PAR-CLIP	23592263
MIRT487638	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT487637	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT483129	hsa-miR-4467	PAR-CLIP	23592263
MIRT487636	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT487635	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT487634	hsa-miR-6727-5p	PAR-CLIP	23592263
MIRT483135	hsa-miR-4285	PAR-CLIP	23592263
MIRT483134	hsa-miR-1827	PAR-CLIP	23592263
MIRT483133	hsa-miR-3960	PAR-CLIP	23592263
MIRT483132	hsa-miR-8072	PAR-CLIP	23592263
MIRT483131	hsa-miR-4767	PAR-CLIP	23592263
MIRT483129	hsa-miR-4467	PAR-CLIP	23592263
MIRT825497	hsa-miR-1226	CLIP-seq
MIRT825498	hsa-miR-1234	CLIP-seq
MIRT825499	hsa-miR-141	CLIP-seq
MIRT825500	hsa-miR-200a	CLIP-seq
MIRT825501	hsa-miR-3176	CLIP-seq
MIRT825502	hsa-miR-3194-5p	CLIP-seq
MIRT825503	hsa-miR-370	CLIP-seq
MIRT825504	hsa-miR-3922-3p	CLIP-seq
MIRT825505	hsa-miR-3943	CLIP-seq
MIRT825506	hsa-miR-4299	CLIP-seq
MIRT825507	hsa-miR-4456	CLIP-seq
MIRT825508	hsa-miR-4646-5p	CLIP-seq
MIRT825509	hsa-miR-4690-3p	CLIP-seq
MIRT825510	hsa-miR-4731-5p	CLIP-seq
MIRT825511	hsa-miR-4747-5p	CLIP-seq
MIRT825512	hsa-miR-4758-3p	CLIP-seq
MIRT825513	hsa-miR-548q	CLIP-seq
MIRT825514	hsa-miR-593	CLIP-seq
MIRT825515	hsa-miR-760	CLIP-seq
MIRT1944047	hsa-miR-3127-3p	CLIP-seq
MIRT1944048	hsa-miR-412	CLIP-seq
MIRT1944049	hsa-miR-4520a-3p	CLIP-seq
MIRT1944050	hsa-miR-4520b-3p	CLIP-seq
MIRT1944051	hsa-miR-4529-3p	CLIP-seq
MIRT2182628	hsa-miR-4722-5p	CLIP-seq
MIRT2384888	hsa-miR-4695-5p	CLIP-seq
MIRT1944047	hsa-miR-3127-3p	CLIP-seq
MIRT2676064	hsa-miR-3616-3p	CLIP-seq
MIRT2676065	hsa-miR-4290	CLIP-seq
MIRT2676066	hsa-miR-4667-3p	CLIP-seq
MIRT2676067	hsa-miR-4721	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IMP	23029325
GO:0000287	Function	Magnesium ion binding	IDA	14976552
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14976552
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0005524	Function	ATP binding	IDA	14976552
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	22713462, 23907667
GO:0005783	Component	Endoplasmic reticulum	IDA	23907667
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	23029325
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	14976552
GO:0006887	Process	Exocytosis	IEA
GO:0007409	Process	Axonogenesis	IBA	21873635
GO:0007409	Process	Axonogenesis	ISS
GO:0010975	Process	Regulation of neuron projection development	ISS
GO:0018105	Process	Peptidyl-serine phosphorylation	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0030010	Process	Establishment of cell polarity	IBA	21873635
GO:0030010	Process	Establishment of cell polarity	ISS
GO:0030182	Process	Neuron differentiation	ISS
GO:0031532	Process	Actin cytoskeleton reorganization	IMP	22669945
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0036503	Process	ERAD pathway	IMP	23907667
GO:0042149	Process	Cellular response to glucose starvation	IBA	21873635
GO:0043462	Process	Regulation of ATPase activity	NAS	23907667
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050321	Function	Tau-protein kinase activity	IBA	21873635
GO:0050321	Function	Tau-protein kinase activity	IDA	21985311
GO:0050321	Function	Tau-protein kinase activity	ISS
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0050770	Process	Regulation of axonogenesis	ISS
GO:0051117	Function	ATPase binding	IDA	23907667
GO:0051301	Process	Cell division	IEA
GO:0060590	Function	ATPase regulator activity	NAS	23907667
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	22669945
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	22713462
GO:0090176	Process	Microtubule cytoskeleton organization involved in establishment of planar polarity	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:0150034	Component	Distal axon	ISS
GO:1904152	Process	Regulation of retrograde protein transport, ER to cytosol	IC	23907667
GO:1904152	Process	Regulation of retrograde protein transport, ER to cytosol	NAS	23907667
GO:2000807	Process	Regulation of synaptic vesicle clustering	TAS	18268107

MIM	HGNC	e!Ensembl
609236	11405	ENSG00000174672

Protein

UniProt ID

Q8IWQ3

Protein 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

Protein 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 STK1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	19 → 270	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in pancreas islets (at protein level). {ECO:0000269|PubMed:22798068}.

Sequence

MTSTGKDGGAQHAQYVGPYRLEKTLGKGQTGLVKLGVHCVTCQKVAIKIVNREKLSESVL
MKVEREIAILKLIEHPHVLKLHDVYENKKYLYLVLEHVSGGELFDYLVKKGRLTPKEARK
FFRQIISALDFCHSHSICHRDLKPENLLLDEKNNIRIADFGMASLQVGDSLLETSCGSPH
YACPEVIRGEKYDGRKADVWSCGVILFALLVGALPFDDDNLRQLLEKVKRGVFHMPHFIP
PDCQSLLRGMIEVDAARRLTLEHIQKHIWYIGGKNEPEPEQPIPRKVQIRSLPSLEDIDP
DVLDSMHSLGCFRDRNKLLQDLLSEEENQEKMIYFLLLDRKERYPSQEDEDLPPRNEIDP
PRKRVDSPMLNRHGKRRPERKSMEVLSVTDGGSPVPARRAIEMAQHGQRSRSISGASSGL
STSPLSSPRVTPHPSPRGSPLPTPKGTPVHTPKESPAGTPNPTPPSSPSVGGVPWRARLN
SIKNSFLGSPRFHRRKLQVPTPEEMSNLTPESSPELAKKSWFGNFISLEKEEQIFVVIKD
KPLSSIKADIVHAFLSIPSLSHSVISQTSFRAEYKATGGPAVFQKPVKFQVDITYTEGGE
AQKENGIYSVTFTLLSGPSRRFKRVVETIQAQLLSTHDPPAAQHLSDTTNCMEMMTGRLS
KCGSPLSNFFDVIKQLFSDEKNGQAAQAPSTPAKRSAHGPLGDSAAAGPGPGGDAEYPTG
KDTAKMGPPTARREQP

Sequence length

736

Interactions

View interactions

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672	30879638
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	30879638
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	30879638, 28135719
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886	30879638
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	28135719, 30879638
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30879638, 28135719
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 View all (2 more)	30879638
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder, neurodevelopmental disorder	GenCC
Metabolic Syndrome	Metabolic Syndrome	GWAS
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Autistic Disorder	Associate	30879638
Carcinoma Hepatocellular	Associate	33540684, 39849389
Cardiomyopathy Hypertrophic	Associate	36499607
Developmental Disabilities	Associate	30879638
Diastrophic dysplasia	Associate	30879638
Disease	Associate	30879638
Hypersensitivity Delayed	Associate	30879638
Intellectual Disability	Associate	30879638
Language Development Disorders	Associate	30879638
Pancreatic Neoplasms	Associate	28591720
Rectal Neoplasms	Associate	35409691

BRSK2 (BR serine/threonine kinase 2)