SIK1 (salt inducible kinase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Entrez ID 150094
Gene name Salt inducible kinase 1
Gene symbol SIK1
Synonyms (NCBI Gene)
DEE30MSKSIKSIK-1SIK1BSNF1LK
Chromosome 21
Chromosome location 21q22.3
Summary This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transdu
miRNA miRNA information provided by mirtarbase database.
925
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Show/Hide all (925)
miRTarBase ID miRNA Experiments Reference
MIRT028368 hsa-miR-32-5p Sequencing 20371350
MIRT052414 hsa-let-7a-5p CLASH 23622248
MIRT050012 hsa-miR-28-5p CLASH 23622248
MIRT612496 hsa-miR-4731-3p HITS-CLIP 23824327
MIRT612495 hsa-miR-4801 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Show/Hide all (58)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 14976552
GO:0000287 Function Magnesium ion binding IEA
GO:0000287 Function Magnesium ion binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
605705 11142 ENSG00000142178
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
  KEGG 
  Glucagon signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Gene miRNA Gene ontology Other IDs Pathways Associated diseases
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)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 30 Likely pathogenic; Pathogenic rs2516964679, rs786205159, rs786205160, rs786205161, rs786205163, rs2516965790 RCV002280233
RCV000170344
RCV000170345
RCV000170346
RCV000170348
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay Likely pathogenic rs1256783641 RCV001807537
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language disorder Likely pathogenic rs1256783641 RCV001807537
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (31)
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
Acute myeloid leukemia Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations