STYX
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Summary
STYX (serine/threonine/tyrosine interacting protein, HGNC:11447) is a protein-coding gene on chromosome 14q22.1, encoding Serine/threonine/tyrosine-interacting protein (Q8WUJ0). Catalytically inactive phosphatase.
The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes.
Source: NCBI Gene 6815 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_145251
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11447 |
| Approved symbol | STYX |
| Name | serine/threonine/tyrosine interacting protein |
| Location | 14q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000198252 |
| Ensembl biotype | protein_coding |
| OMIM | 615814 |
| Entrez | 6815 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000354586, ENST00000442123, ENST00000556861, ENST00000874949, ENST00000874950, ENST00000874951, ENST00000874952, ENST00000874953, ENST00000938212, ENST00000964564
RefSeq mRNA: 2 — MANE Select: NM_145251
NM_001130701, NM_145251
CCDS: CCDS9711
Canonical transcript exons
ENST00000354586 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000657471 | 52759682 | 52759754 |
| ENSE00000854757 | 52757874 | 52757924 |
| ENSE00001147757 | 52744852 | 52744884 |
| ENSE00001164972 | 52768840 | 52768933 |
| ENSE00001165000 | 52757743 | 52757782 |
| ENSE00001165010 | 52757319 | 52757355 |
| ENSE00001165021 | 52756551 | 52756611 |
| ENSE00001165033 | 52750683 | 52750780 |
| ENSE00001165045 | 52746426 | 52746479 |
| ENSE00001392440 | 52730166 | 52730531 |
| ENSE00001958260 | 52771033 | 52774989 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 90.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.9716 / max 131.2841, expressed in 1819 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139622 | 24.9716 | 1819 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| superficial temporal artery | UBERON:0001614 | 90.52 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.30 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 89.94 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.41 | gold quality |
| quadriceps femoris | UBERON:0001377 | 88.62 | gold quality |
| biceps brachii | UBERON:0001507 | 87.34 | gold quality |
| leukocyte | CL:0000738 | 87.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.03 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 86.99 | gold quality |
| monocyte | CL:0000576 | 86.93 | gold quality |
| deltoid | UBERON:0001476 | 86.61 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.57 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.48 | gold quality |
| oral cavity | UBERON:0000167 | 86.27 | gold quality |
| liver | UBERON:0002107 | 86.10 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.08 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 86.03 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.82 | gold quality |
| amniotic fluid | UBERON:0000173 | 85.52 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.52 | gold quality |
| muscle tissue | UBERON:0002385 | 85.05 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 84.80 | gold quality |
| granulocyte | CL:0000094 | 84.13 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.73 | gold quality |
| gingiva | UBERON:0001828 | 83.67 | gold quality |
| lymph node | UBERON:0000029 | 83.58 | gold quality |
| muscle of leg | UBERON:0001383 | 83.26 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.18 | gold quality |
| gastrocnemius | UBERON:0001388 | 83.16 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
178 targeting STYX, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| 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 |
Literature-anchored findings (GeneRIF, showing 5)
- results identify STYX as an important regulator of ERK1/2 signaling critical for cell migration (PMID:23847209)
- The authors show that STYX binds to the F-box domain of FBXW7 and disables its recruitment into the SCF ubiquitin ligase complex. (PMID:28007894)
- Results suggest that STYX is a pseudophosphatase that uses the ‘competitor’ and ‘anchor’ mode of action to exert its biologic roles. [review] (PMID:28408485)
- STYX bound to the F-box and WD repeat domain-containing7 (FBXW7) protein and inhibited its function. Co-regulation of STYX and FBXW7 expression reversed the biological changes mediated by regulation of STYX expression alone in CRC cells. (PMID:30981757)
- STYX/FBXW7 axis participates in the development of endometrial cancer cell via Notch-mTOR signaling pathway. (PMID:32239181)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | styx | ENSDARG00000057699 |
| mus_musculus | Styx | ENSMUSG00000053205 |
| mus_musculus | Styx-ps | ENSMUSG00000071748 |
| rattus_norvegicus | ENSRNOG00000065797 | |
| rattus_norvegicus | ENSRNOG00000090469 | |
| caenorhabditis_elegans | WBGENE00021867 |
Paralogs (31): DUSP13B (ENSG00000079393), DUSP12 (ENSG00000081721), SSH1 (ENSG00000084112), DUSP3 (ENSG00000108861), PTPMT1 (ENSG00000110536), DUSP16 (ENSG00000111266), EPM2A (ENSG00000112425), DUSP22 (ENSG00000112679), DUSP1 (ENSG00000120129), DUSP4 (ENSG00000120875), STYXL1 (ENSG00000127952), DUSP9 (ENSG00000130829), DUSP26 (ENSG00000133878), DUSP5 (ENSG00000138166), DUSP6 (ENSG00000139318), SSH2 (ENSG00000141298), DUSP10 (ENSG00000143507), DUSP15 (ENSG00000149599), DUSP2 (ENSG00000158050), KASH5 (ENSG00000161609), DUSP19 (ENSG00000162999), DUSP7 (ENSG00000164086), DUSP18 (ENSG00000167065), SSH3 (ENSG00000172830), DUSP8 (ENSG00000184545), DUSP28 (ENSG00000188542), DUSP29 (ENSG00000188716), DUSP21 (ENSG00000189037), STYXL2 (ENSG00000198842), DUSP14 (ENSG00000276023), DUSP13A (ENSG00000293543)
Protein
Protein identifiers
Serine/threonine/tyrosine-interacting protein — Q8WUJ0 (reviewed: Q8WUJ0)
Alternative names: Inactive tyrosine-protein phosphatase STYX, Phosphoserine/threonine/tyrosine interaction protein
All UniProt accessions (1): Q8WUJ0
UniProt curated annotations — full annotation on UniProt →
Function. Catalytically inactive phosphatase. Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2). By binding to the F-box of FBXW7, prevents the assembly of FBXW7 into the SCF E3 ubiquitin-protein ligase complex, and thereby inhibits degradation of its substrates. Plays a role in spermatogenesis.
Subunit / interactions. Interacts with MAPK1; independently of MAPK1 phosphorylation status. Interacts with CARHSP1/Crhsp-24. Interacts (via FQQ motif) with FBXW7 isoforms 1 (via F-box domain) and 3 (via F-box domain); the interaction is direct and prevents FBXW7 interaction with SKP1, a component of the SCF(FBXW7) complex. Does not interact with FBXW7 isoform 2.
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
RefSeq proteins (2): NP_001124173, NP_660294* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR052449 | STYX-Interacting_Phosphatase | Family |
Pfam: PF00782
UniProt features (27 total): helix 9, strand 6, modified residue 3, mutagenesis site 3, turn 2, chain 1, domain 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2R0B | X-RAY DIFFRACTION | 1.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUJ0-F1 | 87.74 | 0.75 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 184, 193, 201
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 76–78 | loss of interaction with fbxw7. does not affect interaction with mapk1 and nuclear localization. |
| 120 | confers phosphatase activity. dephosphorylates mapk1. does not affect interaction with fbxw7 and nuclear localization. |
| 142–144 | increases interaction with fbxw7. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, HORIUCHI_WTAP_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_BINDING, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TATTATA_MIR374, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GTGCCTT_MIR506, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_BINDING, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, ATTACAT_MIR3803P
GO Biological Process (5): negative regulation of protein binding (GO:0032091), negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process (GO:0062026), regulation of ERK1 and ERK2 cascade (GO:0070372), protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311)
GO Molecular Function (3): pseudophosphatase activity (GO:0001691), F-box domain binding (GO:1990444), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein binding | 1 |
| regulation of protein binding | 1 |
| negative regulation of binding | 1 |
| SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 1 |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| regulation of SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 1 |
| regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphate-containing compound metabolic process | 1 |
| phosphatase inhibitor activity | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1346 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STYX | TXNDC16 | Q9P2K2 | 576 |
| STYX | GNPNAT1 | Q96EK6 | 565 |
| STYX | GPR137C | Q8N3F9 | 548 |
| STYX | CUL1 | Q13616 | 495 |
| STYX | DDHD1 | Q8NEL9 | 489 |
| STYX | GPR27 | Q9NS67 | 467 |
| STYX | PTS | Q03393 | 461 |
| STYX | SKP1 | P34991 | 458 |
| STYX | FAXDC2 | Q96IV6 | 450 |
| STYX | MAPK1 | P28482 | 442 |
| STYX | MAPK3 | P27361 | 442 |
| STYX | RTRAF | Q9Y224 | 438 |
| STYX | PSMC6 | P49719 | 427 |
| STYX | SHOC2 | Q9UQ13 | 426 |
| STYX | MYC | P01106 | 411 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXW7 | MYC | psi-mi:“MI:0914”(association) | 0.870 |
| FBXW7 | SKP1 | psi-mi:“MI:0914”(association) | 0.860 |
| FBXW7 | SKP1 | psi-mi:“MI:0915”(physical association) | 0.860 |
| LAMTOR2 | LAMTOR5 | psi-mi:“MI:0914”(association) | 0.860 |
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| STYX | FBXW7 | psi-mi:“MI:0915”(physical association) | 0.760 |
| STYX | FBXW7 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| STYX | FBXW7 | psi-mi:“MI:0915”(physical association) | 0.600 |
| STYX | FBXW7 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| STYX | FBXW7 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| STYX | FBXW7 | psi-mi:“MI:0915”(physical association) | 0.460 |
| GARIN1B | STYX | psi-mi:“MI:0915”(physical association) | 0.400 |
| STYX | LMTK2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | AATK | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | ERBB4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | ERBB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | EGFR | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | ERBB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | TEK | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | KIT | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | KDR | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | ROR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | ROR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | MUSK | psi-mi:“MI:0915”(physical association) | 0.370 |
| STYX | INSRR | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (102): FAM172A (Affinity Capture-MS), FBXL12 (Affinity Capture-MS), FBXL14 (Affinity Capture-MS), FBXO33 (Affinity Capture-MS), FBXO38 (Affinity Capture-MS), FBXW7 (Affinity Capture-MS), HDLBP (Affinity Capture-MS), HSPA6 (Affinity Capture-MS), KPNA1 (Affinity Capture-MS), PAK4 (Affinity Capture-MS), SF3B4 (Affinity Capture-MS), SKP1 (Affinity Capture-MS), USP7 (Affinity Capture-MS), STYX (Affinity Capture-MS), CAP1 (Affinity Capture-MS)
ESM2 similar proteins: A4FUN7, A5D9H7, A5PKA5, A5WWB0, A6H8I0, A6NNY8, C0HB46, D0RB01, F1M625, O75317, O89050, P0C8Z3, P50876, P50904, P62068, P62069, Q09LZ8, Q3TIX9, Q3UHD6, Q52KZ6, Q53GS9, Q5DU02, Q5F415, Q5F450, Q5IFJ9, Q5IS37, Q5IS82, Q5M981, Q5R4Q7, Q5R573, Q5R761, Q5RB35, Q5RBQ4, Q5RDP3, Q5VU57, Q60969, Q6DCJ1, Q6GNI6, Q8CEG8, Q8K4V4
Diamond homologs: A4IHU7, F1QWM2, O09112, O13632, O55737, O95147, P0C591, P0C592, P0C593, P0C594, P0C595, P0C596, P0C597, P0C598, P0C599, P0C5A0, P0C5A1, P0C5A2, P28562, P28563, P51452, Q05922, Q13115, Q13202, Q148W8, Q16828, Q16829, Q17QJ3, Q17QM8, Q1LWL2, Q29RA3, Q2KJ36, Q39491, Q4KL92, Q4RQD3, Q4V7N3, Q54T76, Q54Y32, Q556Y8, Q55BI8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| STYX | “down-regulates activity” | FBXW7 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Constitutive Signaling by Aberrant PI3K in Cancer | 5 | 21.9× | 9e-05 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 6 | 20.0× | 2e-05 |
| PIP3 activates AKT signaling | 8 | 18.4× | 3e-06 |
| RAF/MAP kinase cascade | 7 | 14.7× | 2e-05 |
| Cellular responses to stress | 7 | 8.9× | 2e-04 |
| Cellular responses to stimuli | 7 | 7.6× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell surface receptor protein tyrosine kinase signaling pathway | 10 | 51.1× | 2e-12 |
| positive regulation of epithelial cell proliferation | 5 | 35.9× | 3e-05 |
| protein autophosphorylation | 7 | 29.9× | 5e-07 |
| positive regulation of MAPK cascade | 10 | 23.7× | 2e-09 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 8 | 18.4× | 1e-06 |
| positive regulation of cell migration | 7 | 12.7× | 7e-05 |
| cell migration | 7 | 12.7× | 7e-05 |
| positive regulation of ERK1 and ERK2 cascade | 5 | 12.5× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1741 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:52730528:CGAGG:C | donor_loss | 1.0000 |
| 14:52730531:GGT:G | donor_loss | 1.0000 |
| 14:52730532:GT:G | donor_loss | 1.0000 |
| 14:52730533:T:A | donor_loss | 1.0000 |
| 14:52744837:T:G | acceptor_gain | 1.0000 |
| 14:52750777:TTAGG:T | donor_loss | 1.0000 |
| 14:52750778:TAGGT:T | donor_loss | 1.0000 |
| 14:52750779:AGGT:A | donor_loss | 1.0000 |
| 14:52750780:GGT:G | donor_loss | 1.0000 |
| 14:52750781:GT:G | donor_loss | 1.0000 |
| 14:52750782:T:G | donor_loss | 1.0000 |
| 14:52757872:A:AG | acceptor_gain | 1.0000 |
| 14:52757873:G:GG | acceptor_gain | 1.0000 |
| 14:52759673:T:TA | acceptor_gain | 1.0000 |
| 14:52759680:A:AC | acceptor_loss | 1.0000 |
| 14:52759680:A:AG | acceptor_gain | 1.0000 |
| 14:52759681:G:GT | acceptor_gain | 1.0000 |
| 14:52759681:GA:G | acceptor_gain | 1.0000 |
| 14:52759681:GAGA:G | acceptor_gain | 1.0000 |
| 14:52759681:GAGAT:G | acceptor_gain | 1.0000 |
| 14:52759753:AGG:A | donor_loss | 1.0000 |
| 14:52759754:GGTAA:G | donor_loss | 1.0000 |
| 14:52759756:T:A | donor_loss | 1.0000 |
| 14:52768834:TTTTA:T | acceptor_loss | 1.0000 |
| 14:52768835:TTTA:T | acceptor_loss | 1.0000 |
| 14:52768836:TTAG:T | acceptor_loss | 1.0000 |
| 14:52768837:TA:T | acceptor_loss | 1.0000 |
| 14:52768838:A:AG | acceptor_gain | 1.0000 |
| 14:52768838:A:T | acceptor_loss | 1.0000 |
| 14:52768839:G:GC | acceptor_loss | 1.0000 |
AlphaMissense
1480 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:52744855:T:A | W21R | 1.000 |
| 14:52744855:T:C | W21R | 1.000 |
| 14:52744857:G:C | W21C | 1.000 |
| 14:52744857:G:T | W21C | 1.000 |
| 14:52744871:G:C | R26T | 1.000 |
| 14:52744872:A:C | R26S | 1.000 |
| 14:52744872:A:T | R26S | 1.000 |
| 14:52746450:G:C | G39R | 1.000 |
| 14:52746451:G:A | G39D | 1.000 |
| 14:52750724:C:G | C62W | 1.000 |
| 14:52750729:G:C | R64P | 1.000 |
| 14:52756573:G:C | D89H | 1.000 |
| 14:52756573:G:T | D89Y | 1.000 |
| 14:52756574:A:C | D89A | 1.000 |
| 14:52756574:A:G | D89G | 1.000 |
| 14:52756574:A:T | D89V | 1.000 |
| 14:52757752:T:C | L117P | 1.000 |
| 14:52757760:G:A | G120R | 1.000 |
| 14:52757760:G:C | G120R | 1.000 |
| 14:52757769:G:A | G123R | 1.000 |
| 14:52757769:G:C | G123R | 1.000 |
| 14:52757769:G:T | G123W | 1.000 |
| 14:52757770:G:A | G123E | 1.000 |
| 14:52757770:G:T | G123V | 1.000 |
| 14:52757776:C:T | S125F | 1.000 |
| 14:52757891:C:A | A133E | 1.000 |
| 14:52759699:T:A | V150D | 1.000 |
| 14:52759711:G:C | R154T | 1.000 |
| 14:52759712:A:C | R154S | 1.000 |
| 14:52759712:A:T | R154S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000054381 (14:52761242 C>A,T), RS1000094738 (14:52770880 T>A), RS1000109847 (14:52760870 C>T), RS1000196420 (14:52774326 T>C), RS1000228518 (14:52731185 G>T), RS1000229070 (14:52774686 A>G), RS1000279639 (14:52732062 A>C,G), RS1000358385 (14:52737360 G>A), RS1000391986 (14:52767855 A>G,T), RS1000504115 (14:52754034 C>A), RS1000513955 (14:52742498 C>T), RS1000609136 (14:52749337 C>T), RS1000628282 (14:52755672 T>G), RS1000640189 (14:52749625 C>A,T), RS1000643715 (14:52736415 G>A)
Disease associations
OMIM: gene MIM:615814 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_15 | Prostate cancer | 2.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| Cyclosporine | decreases expression | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9TH | Ubigene HEK293 STYX KO | Transformed cell line | Female |
| CVCL_E0QC | Ubigene HeLa STYX KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): prostate carcinoma