TSKS (testis specific serine kinase substrate)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 60385
Gene name Testis specific serine kinase substrate
Gene symbol TSKS
Synonyms (NCBI Gene)
PPP1R161STK22S1TSKS1TSSKS
Chromosome 19
Chromosome location 19q13.33
Summary This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS vi
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15044604, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IBA
GO:0005814 Component Centriole IDA 18495105
GO:0005814 Component Centriole IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608253 30719 ENSG00000126467
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJT2
Protein name Testis-specific serine kinase substrate (Testis-specific kinase substrate) (STK22 substrate 1)
Protein function May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15358 TSKS 26 → 592 Testis-specific serine kinase substrate Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Expressed at low levels in prostate, female breast, placenta, ovary and thymus. {ECO:0000269|PubMed:11444856, ECO:0000269|PubMed:15044604}.
Sequence
Sequence length 592
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations