TESK2
protein-codingtestis associated actin remodelling kinase 2, the group of LIMK/TESK kinase family
Gene summary
This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~147.3 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 TESK2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_007170.3. 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 | 2 | 2 | ||||
| missense | 88 | 3 | 91 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 95 | 3 | 0 | 98 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_009101.2 | 10 | MANE Select | |
| Ensembl | ENSP00000361158.3 | 10 | MANE Select | |
| RefSeq | NP_001307729.1 | 9 | Standard | |
| Ensembl | ENSP00000361156.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Regulation of Microtubule Cytoskeleton
- Focal Adhesion
Biological Process
- protein phosphorylation
- spermatogenesis
- peptidyl-tyrosine phosphorylation
- actin cytoskeleton organization
- focal adhesion assembly
Molecular Function
- protein kinase activity
- protein serine/threonine kinase activity
- protein serine/threonine/tyrosine kinase activity
- protein tyrosine kinase activity
- protein binding
Cellular Component
- nucleus
- nucleoplasm
- cytoplasm
- nuclear body
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000372086
- Coding exons
- 10
- Length
- 147318
- Individuals with no LoFs
- 124731
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 66
- Defined
- 124797
- p
- 0.000264
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.494 | 318 | 344 | 0.925 | 0.0000203 | 3721 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00039 | 0.00039 | rare |
| Latino/Admixed American | 0.00038 | 0.00038 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00026 | 0.00026 | rare |
| South Asian | 0.00039 | 0.00039 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- 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.;
Recessive Scores
- pRec
- 0.115
Intolerance Scores
- LoFtool
- 0.565
- RVIS EVS
- 0.22
- RVIS percentile EVS
- 68.44
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.988
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |