STK26
protein-codingserine/threonine kinase 26, the group of STRIPAK complex
Gene summary
The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~52.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to STK26 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016542.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 9 | 2 | 1 | 12 | ||
| missense | 46 | 1 | 1 | 48 | ||
| nonsense | 6 | 6 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 10 | 10 | ||||
| Total | 0 | 0 | 71 | 3 | 2 | 76 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057626.2 | 11 | MANE Select | |
| Ensembl | ENSP00000377867.2 | 11 | MANE Select | |
| RefSeq | NP_001035917.1 | 10 | Standard | |
| RefSeq | NP_001035918.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Apoptotic cleavage of cellular proteins
- Apoptotic execution phase
- Apoptosis
- Programmed Cell Death
- LKB1 signaling events
Biological Process
- MAPK cascade
- protein phosphorylation
- apoptotic process
- cellular response to starvation
- signal transduction by protein phosphorylation
Molecular Function
- magnesium ion binding
- protein kinase activity
- protein serine/threonine kinase activity
- protein binding
- ATP binding
Cellular Component
- Golgi membrane
- cytoplasm
- Golgi apparatus
- Golgi-associated vesicle
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000394334
- Coding exons
- 11
- Length
- 52679
- Individuals with no LoFs
- 125614
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 3
- Defined
- 125618
- p
- 0.0000159
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.70 | 92 | 151 | 0.611 | 0.0000112 | 2744 |
| Missense (PolyPhen) | 19 | 63.992 | 0.29691 | 1204 | ||
| Synonymous | 1.10 | 44 | 54.4 | 0.810 | 0.00000426 | 766 |
| Loss of Function | 2.93 | 4 | 17.0 | 0.235 | 0.00000137 | 288 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000078 | 0.000062 | rare |
| Latino/Admixed American | 0.000076 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000013 | 0.0000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Mediator of cell growth (PubMed:11641781, PubMed:17360971). Modulates apoptosis (PubMed:11641781, PubMed:17360971). In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006). {ECO:0000269|PubMed:11641781, ECO:0000269|PubMed:17360971, ECO:0000269|PubMed:27807006}.;
Intolerance Scores
- RVIS EVS
- -0.14
- RVIS percentile EVS
- 43.29
Essentials
- Essential (gene trap)
- N