STK26

serine/threonine kinase 26, the group of STRIPAK complex

Basic information

Region (hg38): X:132023302-132075943

Links

ENSG00000134602

∙ NCBI:51765 ∙ OMIM:300547 ∙ HGNC:18174 ∙ Uniprot:Q9P289 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STK26 gene.

not_specified (22 variants)
not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016542.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			9 clinvar	2 clinvar	1 clinvar	12
missense			44 clinvar	1 clinvar	1 clinvar	46
nonsense			6 clinvar			6
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	0	69	3	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK26	protein_coding	protein_coding	ENST00000394334	11	52679

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.308	0.691	125614	1	3	125618	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	92	151	0.611	0.0000112	2744
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000137
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000126	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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}.;
Pathway: Apoptotic cleavage of cellular proteins;Apoptotic execution phase;Apoptosis;Programmed Cell Death;LKB1 signaling events (Consensus)

Intolerance Scores

loftool
rvis_EVS: -0.14
rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

pHI
hipred: Y
hipred_score: 0.768
ghis: 0.608

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name: Stk26
Phenotype

Gene ontology

Biological process: MAPK cascade;protein phosphorylation;apoptotic process;cellular response to starvation;signal transduction by protein phosphorylation;microvillus assembly;negative regulation of cell migration;stress-activated protein kinase signaling cascade;activation of protein kinase activity;response to hydrogen peroxide;regulation of apoptotic process;protein autophosphorylation;neuron projection morphogenesis;regulation of hydrogen peroxide-induced cell death
Cellular component: Golgi membrane;cytoplasm;Golgi apparatus;Golgi-associated vesicle;cytosol;vesicle membrane;membrane;apical plasma membrane;perinuclear region of cytoplasm;extracellular exosome;cell periphery
Molecular function: magnesium ion binding;protein kinase activity;protein serine/threonine kinase activity;protein binding;ATP binding;identical protein binding;protein homodimerization activity