Gene Gene information from NCBI Gene database.
Entrez ID 9024
Gene name BR serine/threonine kinase 2
Gene symbol BRSK2
Synonyms (NCBI Gene)
C11orf7PEN11BSAD-ASAD1SADASTK29
Chromosome 11
Chromosome location 11p15.5
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IBA
GO:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0000086 Process G2/M transition of mitotic cell cycle IMP 23029325
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 14976552
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609236 11405 ENSG00000174672
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PDCQSLLRGMIEVDAARRLTLEHIQKHIWY
IGGKNEPEPEQPIPRKVQIRSLPSLEDIDP
DVLDSMHSLGCFRDRNKLLQDLLSEEENQEKMIYFLLLDRKERYPSQEDEDLPPRNEIDP
PRKRVDSPMLNRHGKRRPERKSMEVLSVTDGGSPVPARRAIEMAQHGQRSRSISGASSGL
STSPLSSPRVTPHPSPRGSPLPTPKGTPVHTPKESPAGTPNPTPPSSPSVGGVPWRARLN
SIKNSFLGSPRFHRRKLQVPTPEEMSNLTPESSPELAKKSWFGNFISLEKEEQIFVVIKD
KPLSSIKADIVHAFLSIPSLSHSVISQTSFRAEYKATGGPAVFQKPVKFQVDITYTEGGE
AQKENGIYSVTFTLLSGPSRRFKRVVETIQAQLLSTHDPPAAQHLSDTTNCMEMMTGRLS
KCGSPLSNFFDVIKQLFSDEKNGQAAQAPSTPAKRSAHGPLGDSAAAGPGPGGDAEYPTG
KDTAKMGPPTARREQP
Sequence length 736
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
BRSK2-related disorder Likely pathogenic; Pathogenic rs2133120033, rs1851486514 RCV002251108
RCV004529280
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Likely pathogenic rs2539739333 RCV003331465
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2539740546 RCV003387584
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRSK2-related Intellectual Disability and Autism Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER CTD, ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HEMOLYTIC ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Apraxia of Phonation Apraxia CLINVAR_DG 30879638
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG 30879638
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism CLINVAR_DG 30879638
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism GENOMICS_ENGLAND_DG 28135719
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CLINVAR_DG 30879638
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 30879638 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 30675193
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33540684, 39849389 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30675193
★☆☆☆☆
Found in Text Mining only