Gene Gene information from NCBI Gene database.
Entrez ID 388228
Gene name SH3 domain binding kinase 1
Gene symbol SBK1
Synonyms (NCBI Gene)
SBK
Chromosome 16
Chromosome location 16p12.1
miRNA miRNA information provided by mirtarbase database.
944
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620212 17699 ENSG00000188322
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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)
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
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER 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
Fuchs Endothelial Dystrophy Fuchs Endothelial Dystrophy BEFREE 28695004
★☆☆☆☆
Found in Text Mining only
Gastric Adenocarcinoma Gastric Cancer BEFREE 21104019
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 36045683 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 28714469
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 21104019
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 36045683 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 21104019
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 27856519 Associate
★☆☆☆☆
Found in Text Mining only
Ovarian Mucinous Adenocarcinoma Ovarian adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only