Gene Gene information from NCBI Gene database.
Entrez ID 6789
Gene name Serine/threonine kinase 4
Gene symbol STK4
Synonyms (NCBI Gene)
KRS2MST1YSK3
Chromosome 20
Chromosome location 20q13.12
Summary The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protei
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs387907316 C>T Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained
rs1601230245 G>A Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs1601240010 T>- Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1737
miRTarBase ID miRNA Experiments Reference
MIRT002541 hsa-miR-373-3p Microarray 15685193
MIRT002541 hsa-miR-373-3p Microarray;Other 15685193
MIRT048938 hsa-miR-92a-3p CLASH 23622248
MIRT438460 hsa-miR-18a-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 24752237
MIRT438460 hsa-miR-18a-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 24752237
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
90
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 8566796
GO:0000287 Function Magnesium ion binding IEA
GO:0000902 Process Cell morphogenesis IDA 11805089
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604965 11408 ENSG00000101109
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13043
Protein name Serine/threonine-protein kinase 4 (EC 2.7.11.1) (Mammalian STE20-like protein kinase 1) (MST-1) (STE20-like kinase MST1) (Serine/threonine-protein kinase Krs-2) [Cleaved into: Serine/threonine-protein kinase 4 37kDa subunit (MST1/N); Serine/threonine-prot
Protein function Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal ro
PDB 2JO8 , 3COM , 4NR2 , 4OH8 , 5TWG , 5TWH , 6YAT , 8A5J , 8PAV , 8PAW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 30 281 Protein kinase domain Domain
PF11629 Mst1_SARAH 433 480 C terminal SARAH domain of Mst1 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Ubiquitously expressed. {ECO:0000269|PubMed:17932490}.
Sequence
Sequence length 487
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
FoxO signaling pathway
Pathways in cancer
Non-small cell lung cancer
  Signaling by Hippo
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
Combined immunodeficiency due to STK4 deficiency Pathogenic; Likely pathogenic rs749441226, rs2145695502, rs2145665305, rs2515586999, rs2515640727, rs148138374, rs2067832645, rs387907316, rs1601240010, rs1601230245, rs748660310 RCV001389320
RCV001380131
RCV001963001
RCV002857629
RCV002904679
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases Pathogenic rs387907316 RCV001027635
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease Likely pathogenic rs2515632815, rs2515613848 RCV002302530
RCV003123457
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STK4-related disorder Pathogenic rs387907316 RCV003398579
★★★★☆
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
BIPOLAR DISORDER CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR Disgenet
★★☆☆☆
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 intermittent porphyria Intermittent Porphyria BEFREE 26056943
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19002170, 28814946
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31570790
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 31254927
★☆☆☆☆
Found in Text Mining only
Alpha trait thalassemia alpha Thalassemia BEFREE 25604491
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 19460160
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 19460160
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 20377183, 22069488, 23818595, 30741620
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 22069488 Associate
★☆☆☆☆
Found in Text Mining only