TESK2

testis associated actin remodelling kinase 2, the group of LIMK/TESK kinase family

Basic information

Region (hg38): 1:45343883-45491163

Links

ENSG00000070759 ∙ NCBI:10420 ∙ OMIM:604746 ∙ HGNC:11732 ∙ Uniprot:Q96S53 ∙ 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 TESK2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TESK2 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						0
missense			34	2	1	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	2	1

Variants in TESK2

This is a list of pathogenic ClinVar variants found in the TESK2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-45344880-G-A		not specified	Uncertain significance (Oct 25, 2023)
1-45344949-G-A		not specified	Likely benign (Dec 02, 2024)
1-45344988-C-G		not specified	Uncertain significance (Dec 28, 2022)
1-45345022-C-T		not specified	Uncertain significance (Sep 10, 2024)
1-45345057-C-T		not specified	Uncertain significance (Oct 12, 2022)
1-45345058-G-A		not specified	Uncertain significance (Oct 12, 2021)
1-45345102-C-T			Likely benign (May 01, 2022)
1-45345169-A-T		not specified	Uncertain significance (Feb 23, 2023)
1-45345177-G-A		not specified	Uncertain significance (Mar 07, 2024)
1-45345192-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-45345193-G-A			Benign (Jan 11, 2019)
1-45345198-C-T		not specified	Uncertain significance (Nov 14, 2023)
1-45345201-C-T		not specified	Uncertain significance (Jul 26, 2024)
1-45345202-G-A		not specified	Uncertain significance (Dec 13, 2023)
1-45345243-A-G		not specified	Uncertain significance (Jun 22, 2023)
1-45345369-G-A		not specified	Uncertain significance (Apr 18, 2023)
1-45345424-G-A		not specified	Uncertain significance (Apr 18, 2024)
1-45345435-C-T		not specified	Uncertain significance (Jan 10, 2022)
1-45345477-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-45345525-A-G		not specified	Uncertain significance (Dec 14, 2023)
1-45345878-C-G		not specified	Uncertain significance (Aug 28, 2023)
1-45345879-C-G		not specified	Uncertain significance (Feb 27, 2023)
1-45345944-C-A		not specified	Uncertain significance (Dec 14, 2021)
1-45346995-T-C		not specified	Uncertain significance (May 05, 2023)
1-45347925-C-T		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TESK2	protein_coding	protein_coding	ENST00000372086	10	147318

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.46e-7	0.990	124731	0	66	124797	0.000264

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.494	318	344	0.925	0.0000203	3721
Missense in Polyphen		106	137.84	0.76901		1519
Synonymous	-0.0984	125	124	1.01	0.00000640	1178
Loss of Function	2.36	15	28.6	0.524	0.00000191	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000765	0.000765
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000257	0.000256
Middle Eastern	0.000111	0.000111
South Asian	0.000395	0.000392
Other	0.000495	0.000495

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser-3'. May play an important role in spermatogenesis.
• Pathway: Regulation of Microtubule Cytoskeleton;Focal Adhesion (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.565
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.44

Haploinsufficiency Scores

• pHI: 0.274
• hipred: N
• hipred_score: 0.393
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tesk2

Gene ontology

• Biological process: protein phosphorylation;spermatogenesis;peptidyl-tyrosine phosphorylation;actin cytoskeleton organization;focal adhesion assembly
• Cellular component: nucleus;nucleoplasm;cytoplasm;nuclear body
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;protein serine/threonine/tyrosine kinase activity;protein tyrosine kinase activity;protein binding;ATP binding;metal ion binding