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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			8		1	9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	2

Variants in STK26

This is a list of pathogenic ClinVar variants found in the STK26 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-132054673-C-T		not specified	Uncertain significance (Aug 30, 2022)
X-132054720-C-A		not specified	Uncertain significance (Jul 14, 2022)
X-132054721-C-T			Benign (Jun 23, 2018)
X-132068219-G-A		not specified	Uncertain significance (Jun 04, 2024)
X-132068221-G-T		not specified	Uncertain significance (Nov 21, 2023)
X-132068261-A-G			Uncertain significance (May 01, 2022)
X-132068310-C-T			Likely benign (Feb 01, 2023)
X-132068565-C-T		not specified	Uncertain significance (Apr 15, 2024)
X-132071119-A-G			Likely benign (Sep 01, 2022)
X-132071203-C-T			Benign (Sep 07, 2017)
X-132072320-G-A		not specified	Uncertain significance (Jun 07, 2023)
X-132072343-G-C		not specified	Uncertain significance (Apr 28, 2022)
X-132072828-C-A		not specified	Uncertain significance (Jan 29, 2024)
X-132072867-T-G		not specified	Uncertain significance (Oct 28, 2024)
X-132072994-A-G		not specified	Conflicting classifications of pathogenicity (Mar 01, 2023)
X-132073051-T-C		not specified	Uncertain significance (Nov 10, 2022)

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

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.768
• ghis: 0.608

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Stk26

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