STK36

serine/threonine kinase 36, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 2:218672068-218702716

Links

ENSG00000163482 ∙ NCBI:27148 ∙ OMIM:607652 ∙ HGNC:17209 ∙ Uniprot:Q9NRP7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• ciliary dyskinesia, primary, 46 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 46	AR	Allergy/Immunology/Infectious; Pulmonary	Pulmonary surveillance may be beneficial to assess respiratory function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions, as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Genitourinary; Pulmonary	28543983

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STK36 gene.

• not provided (62 variants)
• Inborn genetic diseases (60 variants)
• Ciliary dyskinesia, primary, 46 (5 variants)
• not specified (3 variants)
• STK36-related condition (2 variants)
• See cases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK36 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				6	7	13
missense			61	12	13	86
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region				1		1
non coding					26	26
Total	0	0	62	18	46

Variants in STK36

This is a list of pathogenic ClinVar variants found in the STK36 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-218672501-G-A			Benign (May 15, 2021)
2-218672514-A-T			Benign (May 16, 2021)
2-218672893-C-A			Likely benign (Aug 08, 2018)
2-218673628-G-A		not specified	Uncertain significance (May 11, 2022)
2-218673659-G-T		not specified	Uncertain significance (Jan 31, 2024)
2-218673700-A-G		not specified	Uncertain significance (Sep 15, 2021)
2-218673706-C-T		STK36-related disorder • not specified	Uncertain significance (Aug 03, 2023)
2-218673715-C-T		STK36-related disorder • not specified	Uncertain significance (Aug 03, 2023)
2-218674076-A-C			Benign (May 15, 2021)
2-218675267-A-G			Benign (May 15, 2021)
2-218675355-G-A		not specified	Uncertain significance (Oct 25, 2022)
2-218675404-T-A		not specified	Uncertain significance (Feb 02, 2024)
2-218675404-T-C		See cases	Uncertain significance (Apr 04, 2023)
2-218675436-C-T		not specified	Uncertain significance (Mar 13, 2023)
2-218675439-G-A		not specified	Uncertain significance (Feb 05, 2024)
2-218675461-T-C		not specified	Uncertain significance (Jan 31, 2024)
2-218675520-CT-C			Benign (May 15, 2021)
2-218675520-CTT-C			Benign (May 20, 2021)
2-218675520-C-CT			Benign (Jun 01, 2021)
2-218675543-A-G			Benign (May 15, 2021)
2-218675618-G-A			Benign (May 25, 2021)
2-218676037-G-A		not specified	Uncertain significance (Nov 12, 2021)
2-218676042-A-G		not specified	Uncertain significance (Jul 29, 2022)
2-218676048-A-G		See cases	Uncertain significance (Apr 04, 2023)
2-218676126-G-A		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK36	protein_coding	protein_coding	ENST00000295709	26	30691

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.15e-22	0.900	125567	0	181	125748	0.000720

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	644	729	0.883	0.0000396	8475
Missense in Polyphen		141	175.93	0.80146		2156
Synonymous	0.313	286	293	0.977	0.0000150	2788
Loss of Function	2.48	44	65.7	0.670	0.00000351	696

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00164	0.00164
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000544	0.000544
Finnish	0.000372	0.000370
European (Non-Finnish)	0.000707	0.000703
Middle Eastern	0.000544	0.000544
South Asian	0.00107	0.00105
Other	0.000819	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia. {ECO:0000250|UniProtKB:Q69ZM6, ECO:0000269|PubMed:10806483}.
• Pathway: HH-Ncore;Hedgehog Signaling Pathway;Hedgehog;Hedgehog signaling events mediated by Gli proteins (Consensus)

Recessive Scores

• pRec: 0.216

Intolerance Scores

• loftool: 0.886
• rvis_EVS: 1.19
• rvis_percentile_EVS: 92.86

Haploinsufficiency Scores

• pHI: 0.331
• hipred: N
• hipred_score: 0.420
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.986

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Stk36
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; renal/urinary system phenotype; skeleton phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; growth/size/body region phenotype; hematopoietic system phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: stk36
• Affected structure: fast muscle cell
• Phenotype tag: abnormal
• Phenotype quality: increased amount

Gene ontology

• Biological process: epithelial cilium movement;protein phosphorylation;positive regulation of hh target transcription factor activity;brain development;post-embryonic development;positive regulation of smoothened signaling pathway;regulation of DNA-binding transcription factor activity;cilium assembly
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: protein serine/threonine kinase activity;protein binding;ATP binding;transcription factor binding;metal ion binding