Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388228
Gene name Gene Name - the full gene name approved by the HGNC.
SH3 domain binding kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SBK1
Synonyms (NCBI Gene) Gene synonyms aliases
SBK
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT037917 hsa-miR-532-3p CLASH 23622248
MIRT608558 hsa-miR-3911 HITS-CLIP 23313552
MIRT608557 hsa-miR-644a HITS-CLIP 23313552
MIRT608556 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT608555 hsa-miR-6818-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620212 17699 ENSG00000188322
Protein
UniProt ID Q52WX2
Protein name Serine/threonine-protein kinase SBK1 (EC 2.7.11.1) (SH3 domain-binding kinase 1)
Protein function May be involved in signal-transduction pathways related to the control of brain development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 53 315 Protein kinase domain Domain
Sequence
Sequence length 424
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37737707
Lung Neoplasms Associate 36045683
Melanoma Associate 36045683
Neoplasms Associate 36045683
Osteoporosis Associate 27856519
Osteoporotic Fractures Associate 27856519
Uterine Cervical Neoplasms Associate 40640353