TSSK6
gene geneOn this page
Also known as SSTKFLJ24002CT72
Summary
TSSK6 (testis specific serine kinase 6, HGNC:30410) is a protein-coding gene on chromosome 19p13.11, encoding Testis-specific serine/threonine-protein kinase 6 (Q9BXA6). Serine/threonine-protein kinase component of the sperm flagellar doublet microtubules.
This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm.
Source: NCBI Gene 83983 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 22 total
- Druggable target: yes
- MANE Select transcript:
NM_032037
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30410 |
| Approved symbol | TSSK6 |
| Name | testis specific serine kinase 6 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SSTK, FLJ24002, CT72 |
| Ensembl gene | ENSG00000178093 |
| Ensembl biotype | protein_coding |
| OMIM | 610712 |
| Entrez | 83983 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 nonsense_mediated_decay, 1 protein_coding
ENST00000585580, ENST00000587522, ENST00000602623
RefSeq mRNA: 1 — MANE Select: NM_032037
NM_032037
CCDS: CCDS12403
Canonical transcript exons
ENST00000585580 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002812060 | 19514219 | 19515548 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 97.83.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1052 / max 101.7892, expressed in 4 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180147 | 0.1052 | 4 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 97.83 | gold quality |
| right testis | UBERON:0004534 | 97.71 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 95.77 | gold quality |
| sperm | CL:0000019 | 95.33 | gold quality |
| testis | UBERON:0000473 | 94.10 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.33 | silver quality |
| adult organism | UBERON:0007023 | 74.81 | gold quality |
| buccal mucosa cell | CL:0002336 | 74.79 | silver quality |
| granulocyte | CL:0000094 | 74.78 | gold quality |
| stromal cell of endometrium | CL:0002255 | 70.12 | gold quality |
| parotid gland | UBERON:0001831 | 70.08 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 69.40 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 69.34 | gold quality |
| skin of leg | UBERON:0001511 | 67.09 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 67.09 | gold quality |
| right lobe of liver | UBERON:0001114 | 66.42 | gold quality |
| metanephros cortex | UBERON:0010533 | 65.51 | gold quality |
| right uterine tube | UBERON:0001302 | 65.13 | gold quality |
| body of stomach | UBERON:0001161 | 64.69 | gold quality |
| blood | UBERON:0000178 | 64.58 | gold quality |
| spleen | UBERON:0002106 | 64.45 | gold quality |
| right adrenal gland | UBERON:0001233 | 64.28 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 64.26 | gold quality |
| left adrenal gland | UBERON:0001234 | 64.17 | gold quality |
| skin of abdomen | UBERON:0001416 | 64.04 | gold quality |
| body of pancreas | UBERON:0001150 | 63.94 | gold quality |
| zone of skin | UBERON:0000014 | 63.88 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 63.85 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 63.68 | gold quality |
| ventricular zone | UBERON:0003053 | 63.51 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 32.67 |
| E-ANND-3 | no | 0.72 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
24 targeting TSSK6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-92A-1-5P | 98.28 | 64.51 | 631 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
| HSA-MIR-647 | 97.73 | 67.79 | 927 |
| HSA-MIR-518A-3P | 93.85 | 64.90 | 108 |
| HSA-MIR-518B | 93.85 | 64.62 | 111 |
| HSA-MIR-518C-3P | 93.85 | 64.62 | 111 |
| HSA-MIR-518D-3P | 93.85 | 64.59 | 111 |
| HSA-MIR-518F-3P | 93.85 | 64.93 | 108 |
| HSA-MIR-526A-3P | 93.85 | 65.32 | 108 |
Literature-anchored findings (GeneRIF, showing 3)
- results demonstrate that SSTK is required for proper postmeiotic chromatin remodeling and male fertility (PMID:15870294)
- findings, for the first time, suggested an association of c.822+126T>G/C in TSSK6 with spermatogenic impairment in humans in which allele T may be a risk factor for male infertility, while alleles C and G may decrease susceptibility to male infertility (PMID:20037600)
- Testis-specific serine kinase 6 (TSSK6) is abnormally expressed in colorectal cancer and promotes oncogenic behaviors. (PMID:38762178)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tssk6 | ENSDARG00000017994 |
| mus_musculus | Tssk6 | ENSMUSG00000047654 |
| rattus_norvegicus | Tssk6 | ENSRNOG00000020599 |
| drosophila_melanogaster | Snrk | FBGN0033915 |
| drosophila_melanogaster | Nuak | FBGN0262617 |
| caenorhabditis_elegans | WBGENE00012638 | |
| caenorhabditis_elegans | ZK524.4 | WBGENE00013994 |
| caenorhabditis_elegans | tag-344 | WBGENE00015230 |
| caenorhabditis_elegans | WBGENE00044388 |
Paralogs (17): NUAK1 (ENSG00000074590), PRKAA1 (ENSG00000132356), TSSK4 (ENSG00000139908), HUNK (ENSG00000142149), SIK1 (ENSG00000142178), BRSK1 (ENSG00000160469), SIK3 (ENSG00000160584), PRKAA2 (ENSG00000162409), TSSK3 (ENSG00000162526), NUAK2 (ENSG00000163545), SNRK (ENSG00000163788), MELK (ENSG00000165304), SIK2 (ENSG00000170145), BRSK2 (ENSG00000174672), NIM1K (ENSG00000177453), TSSK2 (ENSG00000206203), TSSK1B (ENSG00000212122)
Protein
Protein identifiers
Testis-specific serine/threonine-protein kinase 6 — Q9BXA6 (reviewed: Q9BXA6)
Alternative names: Cancer/testis antigen 72, Serine/threonine-protein kinase SSTK, Small serine/threonine kinase
All UniProt accessions (3): A0A024R7Q5, Q9BXA6, R4GMZ2
UniProt curated annotations — full annotation on UniProt →
Function. Serine/threonine-protein kinase component of the sperm flagellar doublet microtubules. May act as a regulator of sperm motility by mediating phosphorylation of sperm doublet microtubule proteins. Plays a role in DNA condensation during postmeiotic chromatin remodeling and histone-to-protamine transition during spermatogenesis.
Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with HSP90; this interaction stabilizes and activates TSSK6. Interacts with the heat shock proteins HSPCB, HSPA8 and HSPA1A. These interactions appear to be required for TSSK6 kinase activity. Interacts with TSACC; this interaction is direct and recruits TSACC to HSP90, which is essential for kinase activity.
Subcellular location. Cytoplasm. Cytoskeleton. Flagellum axoneme. Nucleus.
Tissue specificity. Highly expressed in testis. Expressed at lower levels in colon, small intestine, ovary, prostate, thymus, spleen and peripheral blood leukocytes.
Post-translational modifications. Autophosphorylated. Ubiquitinated; HSP90 activity negatively regulates ubiquitination and degradation.
Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
RefSeq proteins (1): NP_114426* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000719 | Prot_kinase_dom | Domain |
| IPR008271 | Ser/Thr_kinase_AS | Active_site |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR017441 | Protein_kinase_ATP_BS | Binding_site |
| IPR042710 | TSSK6_STKc | Domain |
Pfam: PF00069
Enzyme classification (BRENDA):
- EC 2.7.11.1 — non-specific serine/threonine protein kinase (BRENDA: 71 organisms, 682 substrates, 228 inhibitors, 23 Km, 6 kcat entries)
Substrate kinetics (BRENDA)
8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.0007–0.64 | 11 |
| KKRAARATSNVFA | 0.013–0.045 | 3 |
| PAH1 PHOSPHATIDATE PHOSPHATASE | 0.0002 | 2 |
| RRRLSSLRA | 0.0036–0.0037 | 2 |
| GTP | 0.46 | 1 |
| KKRAARASSNVFA | 0.02 | 1 |
| LYS-LYS-PHE-ASN-ARG-THR-LEU-SER-VAL-ALA | 0.0093 | 1 |
| MYELIN BASIC PROTEIN | 0.145 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
- L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)
UniProt features (7 total): binding site 2, mutagenesis site 2, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXA6-F1 | 93.76 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 135 (proton acceptor)
Ligand- & substrate-binding residues (2): 18–26; 41
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 41 | loss of kinase activity. loss of binding to tsacc. |
| 135 | loss of kinase activity. no effect of binding to tsacc. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 75 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_NUCLEUS_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, TGANTCA_AP1_C, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_SPERMATID_NUCLEUS_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, GOCC_CYTOPLASMIC_REGION
GO Biological Process (6): protein phosphorylation (GO:0006468), spermatid development (GO:0007286), flagellated sperm motility (GO:0030317), sperm DNA condensation (GO:0035092), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)
GO Molecular Function (11): magnesium ion binding (GO:0000287), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein-containing complex binding (GO:0044877), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (8): nucleus (GO:0005634), sperm flagellum (GO:0036126), axonemal microtubule doublet inner sheath (GO:0160110), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein kinase activity | 2 |
| binding | 2 |
| phosphorylation | 1 |
| protein modification process | 1 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| chromatin organization | 1 |
| spermatid nucleus differentiation | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| metal ion binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| catalytic activity, acting on a protein | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| 9+2 motile cilium | 1 |
| axonemal doublet microtubule | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
2073 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSSK6 | TNP1 | P09430 | 812 |
| TSSK6 | TSKS | Q9UJT2 | 720 |
| TSSK6 | IZUMO1 | Q8IYV9 | 659 |
| TSSK6 | HSP90AB1 | P08238 | 642 |
| TSSK6 | SPACA6 | W5XKT8 | 617 |
| TSSK6 | OAZ3 | Q9UMX2 | 615 |
| TSSK6 | CALY | Q9NYX4 | 603 |
| TSSK6 | SPEM1 | Q8N4L4 | 593 |
| TSSK6 | PRM2 | P04554 | 529 |
| TSSK6 | PLCZ1 | Q86YW0 | 517 |
| TSSK6 | YJEFN3 | A6XGL0 | 513 |
| TSSK6 | SPACA1 | Q9HBV2 | 510 |
| TSSK6 | TSACC | Q96A04 | 507 |
| TSSK6 | DDX25 | Q9UHL0 | 492 |
| TSSK6 | ODF1 | Q14990 | 490 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSSK6 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.740 |
| TSSK6 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TSSK6 | HSP90AB1 | psi-mi:“MI:0914”(association) | 0.740 |
| TSSK6 | HSP90AA1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CDC37 | TSSK6 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TSSK6 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAD2L1BP | KIF20A | psi-mi:“MI:0914”(association) | 0.530 |
| MLF2 | TSSK6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TSSK6 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TSSK6 | PSMD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TSSK6 | AARSD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TSSK6 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| HOXA5 | ANKHD1-EIF4EBP3 | psi-mi:“MI:0914”(association) | 0.350 |
| TSSK6 | HSPA1A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (62): CCT2 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), CCT5 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT8 (Affinity Capture-MS), FKBP5 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), HSP90AA5P (Affinity Capture-MS), FKBP5 (Affinity Capture-MS), ARFGAP2 (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), CDC37 (Affinity Capture-MS)
ESM2 similar proteins: A0A5B9GBF0, A1IVT7, A3B529, B2MVY4, O65554, O70150, O70444, P05128, P11802, P23111, P27638, P29618, P30285, P34112, P35426, P48609, P52389, P58750, P79432, P93101, Q05006, Q0U4L8, Q15759, Q1DUU8, Q2PQN9, Q2U469, Q32KY4, Q38772, Q38HL5, Q41639, Q5JLD8, Q683C9, Q69Q47, Q6ERS4, Q6P2M8, Q6SA08, Q80YP0, Q86V86, Q8C1R0, Q8TGA9
Diamond homologs: A1A5Q6, A2XFF4, A7MB74, A8XJQ6, A8XW88, B1WAS2, B1WBU5, B8BBT7, C0HKC8, C0HKC9, G1X456, O61661, O70150, O88866, O94806, P00517, P05131, P05132, P05383, P05986, P06244, P06245, P0C263, P0C264, P0C5K0, P0C5K1, P0DP15, P12370, P16912, P17612, P21137, P22612, P22694, P25321, P27791, P34099, P36887, P45894, P57058, P57059
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 13 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein stabilization | 5 | 27.9× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
57 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:19514852:CTT:C | donor_gain | 0.6900 |
| 19:19514851:A:AC | donor_gain | 0.6600 |
| 19:19514852:C:CC | donor_gain | 0.6600 |
| 19:19514854:T:TA | donor_gain | 0.5800 |
| 19:19514455:C:CT | acceptor_gain | 0.5600 |
| 19:19514455:C:T | acceptor_gain | 0.5600 |
| 19:19514452:CCCCG:C | acceptor_gain | 0.4700 |
| 19:19514880:A:AC | donor_gain | 0.4500 |
| 19:19515156:T:TA | donor_gain | 0.4500 |
| 19:19514853:T:C | donor_gain | 0.4300 |
| 19:19514454:CCG:C | acceptor_gain | 0.4000 |
| 19:19514847:T:TA | donor_gain | 0.4000 |
| 19:19514453:CCCG:C | acceptor_gain | 0.3800 |
| 19:19514456:G:C | acceptor_gain | 0.3800 |
| 19:19514595:C:CT | donor_gain | 0.3500 |
| 19:19514596:C:CT | donor_gain | 0.3300 |
| 19:19514452:C:A | donor_gain | 0.3200 |
| 19:19514477:C:CT | acceptor_gain | 0.3100 |
| 19:19514526:C:CA | donor_gain | 0.3100 |
| 19:19514882:C:T | donor_gain | 0.3100 |
| 19:19514456:G:T | acceptor_gain | 0.3000 |
| 19:19514806:CGGTG:C | donor_gain | 0.3000 |
| 19:19514456:G:GC | acceptor_gain | 0.2900 |
| 19:19514523:ATTC:A | donor_gain | 0.2900 |
| 19:19514804:CCCGG:C | donor_gain | 0.2900 |
| 19:19514451:C:CA | donor_gain | 0.2800 |
| 19:19514800:T:C | donor_gain | 0.2800 |
| 19:19514839:TCCA:T | donor_gain | 0.2800 |
| 19:19514840:CCAC:C | donor_gain | 0.2800 |
| 19:19514517:T:TA | donor_gain | 0.2700 |
AlphaMissense
1750 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:19514966:G:C | D154E | 1.000 |
| 19:19514966:G:T | D154E | 1.000 |
| 19:19514967:T:A | D154V | 1.000 |
| 19:19515017:C:A | K137N | 1.000 |
| 19:19515017:C:G | K137N | 1.000 |
| 19:19515023:G:C | D135E | 1.000 |
| 19:19515023:G:T | D135E | 1.000 |
| 19:19515024:T:A | D135V | 1.000 |
| 19:19515024:T:C | D135G | 1.000 |
| 19:19515024:T:G | D135A | 1.000 |
| 19:19515260:G:C | F56L | 1.000 |
| 19:19515260:G:T | F56L | 1.000 |
| 19:19515262:A:G | F56L | 1.000 |
| 19:19515305:C:A | K41N | 1.000 |
| 19:19515305:C:G | K41N | 1.000 |
| 19:19514663:C:A | R255S | 0.999 |
| 19:19514663:C:G | R255S | 0.999 |
| 19:19514664:C:A | R255M | 0.999 |
| 19:19514664:C:G | R255T | 0.999 |
| 19:19514792:G:C | F212L | 0.999 |
| 19:19514792:G:T | F212L | 0.999 |
| 19:19514794:A:G | F212L | 0.999 |
| 19:19514796:G:T | P211H | 0.999 |
| 19:19514797:G:A | P211S | 0.999 |
| 19:19514833:C:G | G199R | 0.999 |
| 19:19514840:C:A | W196C | 0.999 |
| 19:19514840:C:G | W196C | 0.999 |
| 19:19514842:A:G | W196R | 0.999 |
| 19:19514842:A:T | W196R | 0.999 |
| 19:19514847:T:A | D194V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1001298943 (19:19514495 T>C), RS1001708485 (19:19515179 G>A,T), RS1001916701 (19:19517372 G>A,C), RS1002309821 (19:19513893 T>C), RS1002641616 (19:19515532 A>AC), RS1002811585 (19:19514254 G>A,C), RS1003592932 (19:19516261 A>C,G), RS1003645138 (19:19516384 G>A,T), RS1004426221 (19:19516446 C>A,T), RS1004673248 (19:19516616 C>G,T), RS1005050587 (19:19517482 G>A), RS1005959845 (19:19515804 A>G,T), RS1006488550 (19:19515579 T>C), RS1007765378 (19:19514300 A>C), RS1008043324 (19:19514451 C>G,T)
Disease associations
OMIM: gene MIM:610712 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002149_11 | Schizophrenia | 3.000000e-09 |
| GCST002539_89 | Schizophrenia | 4.000000e-10 |
| GCST006803_88 | Schizophrenia | 7.000000e-12 |
| GCST007294_16 | Body fat distribution (trunk fat ratio) | 2.000000e-07 |
| GCST007294_35 | Body fat distribution (trunk fat ratio) | 1.000000e-10 |
| GCST007295_166 | Body fat distribution (leg fat ratio) | 2.000000e-11 |
| GCST007295_22 | Body fat distribution (leg fat ratio) | 3.000000e-07 |
| GCST008103_10 | Bipolar disorder | 1.000000e-09 |
| GCST008115_2 | Bipolar I disorder | 3.000000e-09 |
| GCST008116_4 | Bipolar II disorder | 4.000000e-06 |
| GCST010002_52 | Refractive error | 4.000000e-29 |
| GCST010703_335 | Brain morphology (MOSTest) | 3.000000e-10 |
| GCST90016673_3 | Percent liver fat | 1.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0009963 | bipolar I disorder |
| EFO:0009964 | bipolar II disorder |
| EFO:0004346 | neuroimaging measurement |
| EFO:0010821 | liver fat measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3627582 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Testis specific kinase (TSSK) family
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.95 | IC50 | 112 | nM | STAUROSPORINE |
| 6.84 | IC50 | 145 | nM | STAUROSPORINE |
| 6.71 | IC50 | 193 | nM | STAUROSPORINE |
PubChem BioAssay actives
3 with measured affinity, of 21 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one | 1715164: Inhibition of human SSTK using MBP as substrate by [gamma-33P]-ATP assay | ic50 | 0.1120 | uM |
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| clothianidin | decreases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | affects expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
ChEMBL screening assays
15 unique, capped per target: 15 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3631478 | Binding | Inhibition of SSTK (unknown origin) at 10 uM after 120 mins P33 radiolabeled kinase activity assay | Crystal structures of human RIP2 kinase catalytic domain complexed with ATP-competitive inhibitors: Foundations for understanding inhibitor selectivity. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.