Gene Gene information from NCBI Gene database.
Entrez ID 6446
Gene name Serum/glucocorticoid regulated kinase 1
Gene symbol SGK1
Synonyms (NCBI Gene)
SGK
Chromosome 6
Chromosome location 6q23.2
Summary This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell sur
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1171390403 T>C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
539
miRTarBase ID miRNA Experiments Reference
MIRT022117 hsa-miR-124-3p Microarray 18668037
MIRT468242 hsa-miR-19a-3p PAR-CLIP 23592263
MIRT468241 hsa-miR-19b-3p PAR-CLIP 23592263
MIRT468242 hsa-miR-19a-3p PAR-CLIP 23592263
MIRT468241 hsa-miR-19b-3p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
APC Repression 18487207
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001558 Process Regulation of cell growth IEA
GO:0001558 Process Regulation of cell growth TAS 20919962
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602958 10810 ENSG00000118515
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00141
Protein name Serine/threonine-protein kinase Sgk1 (EC 2.7.11.1) (Serum/glucocorticoid-regulated kinase 1)
Protein function Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apo
PDB 2R5T , 3HDM , 3HDN , 7PUE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 98 355 Protein kinase domain Domain
PF00433 Pkinase_C 376 423 Protein kinase C terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues with highest levels in the pancreas, followed by placenta, kidney and lung. Isoform 2 is strongly expressed in brain and pancreas, weaker in heart, placenta, lung, liver and skeletal muscle. {ECO:0000269|PubMe
Sequence
Sequence length 431
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Efferocytosis
mTOR signaling pathway
PI3K-Akt signaling pathway
Parathyroid hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
  Stimuli-sensing channels
Regulation of TP53 Degradation
NGF-stimulated transcription
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple myeloma Likely pathogenic rs1171390403 RCV000984130
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
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
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30257988
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 20541034, 22496620, 23055545
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 18487207, 20110688
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 22496620, 23055545 Associate
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 23055545
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 24685888
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 16125969
★☆☆☆☆
Found in Text Mining only