STYXL1
gene geneOn this page
Also known as MK-STYX
Summary
STYXL1 (serine/threonine/tyrosine interacting like 1, HGNC:18165) is a protein-coding gene on chromosome 7q11.23, encoding Serine/threonine/tyrosine-interacting-like protein 1 (Q9Y6J8). Catalytically inactive phosphatase.
Enables protein phosphatase binding activity and pseudophosphatase activity. Involved in negative regulation of stress granule assembly; positive regulation of intrinsic apoptotic signaling pathway; and positive regulation of neuron projection development. Located in mitochondrion.
Source: NCBI Gene 51657 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 79 total — 1 likely-pathogenic
- MANE Select transcript:
NM_001317785
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18165 |
| Approved symbol | STYXL1 |
| Name | serine/threonine/tyrosine interacting like 1 |
| Location | 7q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MK-STYX |
| Ensembl gene | ENSG00000127952 |
| Ensembl biotype | protein_coding |
| OMIM | 616695 |
| Entrez | 51657 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 31 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000248600, ENST00000340062, ENST00000359697, ENST00000360591, ENST00000430497, ENST00000431581, ENST00000438695, ENST00000451157, ENST00000454618, ENST00000460184, ENST00000474328, ENST00000884112, ENST00000884113, ENST00000884114, ENST00000884115, ENST00000884116, ENST00000884117, ENST00000884118, ENST00000884119, ENST00000884120, ENST00000884121, ENST00000884122, ENST00000884123, ENST00000884124, ENST00000884125, ENST00000884126, ENST00000929929, ENST00000929930, ENST00000929931, ENST00000929932, ENST00000929933, ENST00000929934, ENST00000971319, ENST00000971320, ENST00000971321
RefSeq mRNA: 6 — MANE Select: NM_001317785
NM_001317785, NM_001317786, NM_001317787, NM_001317788, NM_001317789, NM_016086
CCDS: CCDS5580, CCDS83193
Canonical transcript exons
ENST00000359697 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001146601 | 76013742 | 76013887 |
| ENSE00001519919 | 75996342 | 75996599 |
| ENSE00001519920 | 76030421 | 76030527 |
| ENSE00001519923 | 76047662 | 76048000 |
| ENSE00003537949 | 76005259 | 76005404 |
| ENSE00003571834 | 76021851 | 76021992 |
| ENSE00003574794 | 76028642 | 76028703 |
| ENSE00003606846 | 76003758 | 76003855 |
| ENSE00003641884 | 76000890 | 76001002 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 96.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0368 / max 67.7322, expressed in 1812 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84395 | 14.8737 | 1811 |
| 84394 | 1.1630 | 751 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 96.09 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.17 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.96 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.52 | gold quality |
| granulocyte | CL:0000094 | 94.29 | gold quality |
| monocyte | CL:0000576 | 94.00 | gold quality |
| leukocyte | CL:0000738 | 93.40 | gold quality |
| mononuclear cell | CL:0000842 | 93.37 | gold quality |
| body of pancreas | UBERON:0001150 | 93.21 | gold quality |
| rectum | UBERON:0001052 | 92.83 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.80 | gold quality |
| pancreas | UBERON:0001264 | 92.63 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.44 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 92.00 | gold quality |
| right testis | UBERON:0004534 | 92.00 | gold quality |
| left testis | UBERON:0004533 | 91.95 | gold quality |
| bronchus | UBERON:0002185 | 91.89 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.77 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.72 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.58 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.43 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.37 | gold quality |
| testis | UBERON:0000473 | 90.92 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.90 | gold quality |
| spinal cord | UBERON:0002240 | 90.88 | gold quality |
| male germ cell | CL:0000015 | 90.69 | gold quality |
| sperm | CL:0000019 | 90.69 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 90.69 | gold quality |
| putamen | UBERON:0001874 | 90.53 | gold quality |
| ventricular zone | UBERON:0003053 | 90.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EWSR1, FLI1
miRNA regulators (miRDB)
5 targeting STYXL1, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-3672 | 94.46 | 65.67 | 646 |
| HSA-MIR-6864-3P | 94.46 | 65.97 | 625 |
Literature-anchored findings (GeneRIF, showing 11)
- Results illustrated a role for MK-STYX in regulating the ability of G3BP1 to integrate changes in growth-factor stimulation and environmental stress with the regulation of protein synthesis. (PMID:20180778)
- MK-STYX regulates mitochondrial outer membrane permeabilization using a distinct mechanism. (PMID:21262771)
- The pseudophosphatase MK-STYX plays a key role in the cellular response to stress. (PMID:23163895)
- our data support a model in which MK-STYX controls apoptosis by negatively regulating PTPMT1. (PMID:24709986)
- this study revealed STYXL1 as a novel candidate gene for moderate intellectual disability, seizures and behavioral complexities. (PMID:25724587)
- We have detected this variant via whole exome sequencing in a homozygous state in two families. Segregation analyses in our families and thorough validation in international genetic databases provides evidence that this variant is most likely benign. This is important information for genetic counselling. The role of STYXL1 variants in human disease needs to be established (PMID:30472486)
- These findings show that MK-STYX decreases the number of HDAC6-containing aggregates and alters their localization, sustains microtubule acetylation, and increases detyrosination of microtubules, implicating MK-STYX as a signaling molecule in HDAC6 activity. (PMID:30909412)
- Silencing serine/threonine/tyrosine-interacting-like protein 1 (STYXL1) inhibited glioma cell growth, soft agar colony formation, migration, invasion, proliferation, and xenograft tumor growth [Review]. (PMID:31146910)
- STYXL1 promotes malignant progression of hepatocellular carcinoma via downregulating CELF2 through the PI3K/Akt pathway. (PMID:32271415)
- Pseudophosphatase STYXL1 depletion enhances glucocerebrosidase trafficking to lysosomes via ER stress. (PMID:37198709)
- The DUSP domain of pseudophosphatase MK-STYX interacts with G3BP1 to decrease stress granules. (PMID:37516290)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Styxl1 | ENSMUSG00000019178 |
| rattus_norvegicus | Styxl1 | ENSRNOG00000023366 |
Paralogs (31): DUSP13B (ENSG00000079393), DUSP12 (ENSG00000081721), SSH1 (ENSG00000084112), DUSP3 (ENSG00000108861), PTPMT1 (ENSG00000110536), DUSP16 (ENSG00000111266), EPM2A (ENSG00000112425), DUSP22 (ENSG00000112679), DUSP1 (ENSG00000120129), DUSP4 (ENSG00000120875), 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), STYX (ENSG00000198252), STYXL2 (ENSG00000198842), DUSP14 (ENSG00000276023), DUSP13A (ENSG00000293543)
Protein
Protein identifiers
Serine/threonine/tyrosine-interacting-like protein 1 — Q9Y6J8 (reviewed: Q9Y6J8)
Alternative names: Dual specificity phosphatase inhibitor MK-STYX, Dual specificity protein phosphatase 24, Inactive dual specificity protein phosphatase MK-STYX, Map kinase phosphatase-like protein MK-STYX
All UniProt accessions (5): Q9Y6J8, A0A0C4DG63, C9J4H0, H0Y6C4, H7C1Y2
UniProt curated annotations — full annotation on UniProt →
Function. Catalytically inactive phosphatase. By binding to G3BP1, inhibits the formation of G3BP1-induced stress granules. Does not act by protecting the dephosphorylation of G3BP1 at ‘Ser-149’. Inhibits PTPMT1 phosphatase activity. By inhibiting PTPMT1, positively regulates intrinsic apoptosis. May play a role in the formation of neurites during neuronal development.
Subunit / interactions. Interacts with G3BP1. Interacts with PTPMT1; the interaction inhibits PTPMT1 catalytic activity.
Subcellular location. Mitochondrion matrix.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y6J8-1 | 1 | yes |
| Q9Y6J8-2 | 2 | |
| Q9Y6J8-3 | 3 | |
| Q9Y6J8-4 | 4 | |
| Q9Y6J8-5 | 5 |
RefSeq proteins (6): NP_001304714, NP_001304715, NP_001304716, NP_001304717, NP_001304718, NP_057170 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR001763 | Rhodanese-like_dom | Domain |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR036873 | Rhodanese-like_dom_sf | Homologous_superfamily |
| IPR053272 | STY_interacting-like | Family |
Pfam: PF00581, PF00782
UniProt features (10 total): splice variant 6, domain 2, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6J8-F1 | 90.71 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 245–246 | confers phosphatase activity. dephosphorylates g3bp1 at ‘ser-149’. loss of interaction with g3bp1. reduces arsenite-indu |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_ORGANELLE_ASSEMBLY, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, DOUGLAS_BMI1_TARGETS_DN, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT, chr7q11, GOBP_CELL_PROJECTION_ORGANIZATION
GO Biological Process (7): positive regulation of neuron projection development (GO:0010976), intracellular signal transduction (GO:0035556), negative regulation of stress granule assembly (GO:0062030), regulation of intrinsic apoptotic signaling pathway (GO:2001242), positive regulation of intrinsic apoptotic signaling pathway (GO:2001244), protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311)
GO Molecular Function (4): pseudophosphatase activity (GO:0001691), phosphatase inhibitor activity (GO:0019212), protein phosphatase binding (GO:0019903), protein binding (GO:0005515)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intrinsic apoptotic signaling pathway | 2 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| stress granule assembly | 1 |
| regulation of stress granule assembly | 1 |
| negative regulation of organelle assembly | 1 |
| regulation of intracellular signal transduction | 1 |
| regulation of apoptotic signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| positive regulation of apoptotic signaling pathway | 1 |
| regulation of intrinsic apoptotic signaling pathway | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphate-containing compound metabolic process | 1 |
| phosphatase inhibitor activity | 1 |
| enzyme inhibitor activity | 1 |
| phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| phosphatase binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
1108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STYXL1 | G3BP1 | Q13283 | 646 |
| STYXL1 | NUDT11 | Q96G61 | 646 |
| STYXL1 | UHMK1 | Q8TAS1 | 553 |
| STYXL1 | PRKCH | P24723 | 520 |
| STYXL1 | NXF3 | Q9H4D5 | 477 |
| STYXL1 | TRIM39 | Q9HCM9 | 450 |
| STYXL1 | LANCL1 | O43813 | 442 |
| STYXL1 | FLAD1 | Q8NFF5 | 433 |
| STYXL1 | ATXN1 | P54253 | 403 |
| STYXL1 | TTLL9 | Q3SXZ7 | 394 |
| STYXL1 | VMO1 | Q7Z5L0 | 390 |
| STYXL1 | PTS | Q03393 | 389 |
| STYXL1 | TMEM120A | Q9BXJ8 | 367 |
| STYXL1 | NFATC2IP | Q8NCF5 | 365 |
| STYXL1 | POMC | P01189 | 364 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STYXL1 | ARMC8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STYXL1 | NEB | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | Tcr-alpha | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | DDOST | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | PSPH | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | RPS29 | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | SRPRB | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | SMC1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | TLE5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | ATXN10 | psi-mi:“MI:0915”(physical association) | 0.000 |
| STYXL1 | EHD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TRIM54 | STYXL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): ACTA1 (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1C (Affinity Capture-MS), SPTAN1 (Affinity Capture-MS), SPTBN1 (Affinity Capture-MS), VIM (Affinity Capture-MS), STYXL1 (Affinity Capture-RNA), AES (Affinity Capture-MS), SMC1A (Affinity Capture-MS), RPS29 (Affinity Capture-MS), ATXN10 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), PSPH (Affinity Capture-MS), ATXN1 (Affinity Capture-Western), STYXL1 (Affinity Capture-RNA)
ESM2 similar proteins: A2VE14, A5D9H7, B2GV54, B9EKX1, D0RB01, F1M625, F1NBL0, O35684, O54760, O54761, O60242, O60656, O75317, P13591, P31836, P35237, P35290, P62068, P62069, P69849, Q3UQ28, Q3ZCW2, Q4R3G2, Q5JPE7, Q5NVN7, Q5R5K6, Q5R899, Q5RBQ4, Q5RKN4, Q5T4D3, Q5VU57, Q5ZHQ2, Q5ZIN0, Q6ZW05, Q80ZF8, Q8BLF1, Q8BUV3, Q90935, Q90W79, Q969Q5
Diamond homologs: A4IHU7, B4F7B7, O09112, O13453, O54838, O55737, O95147, P0C591, P0C593, P0C594, P0C595, P0C596, P0C598, P0C599, P0C5A0, P28562, P28563, P38148, P38590, P40479, P43078, Q02256, Q0IID7, Q13202, Q16828, Q16829, Q17QJ3, Q17QM8, Q1LWL2, Q2KJ36, Q39491, Q4G0W2, Q4RQD3, Q4V7N3, Q54R42, Q54T76, Q55CS7, Q55E39, Q566R7, Q5APU2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 54 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 563386 | GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1 | Likely pathogenic |
SpliceAI
1713 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:76003753:CTTA:C | donor_loss | 1.0000 |
| 7:76003756:A:AC | donor_gain | 1.0000 |
| 7:76003756:A:AT | donor_loss | 1.0000 |
| 7:76003757:C:CC | donor_gain | 1.0000 |
| 7:76003851:CAAAA:C | acceptor_gain | 1.0000 |
| 7:76003853:AAA:A | acceptor_gain | 1.0000 |
| 7:76003854:AA:A | acceptor_gain | 1.0000 |
| 7:76003856:C:CC | acceptor_gain | 1.0000 |
| 7:76005253:A:AC | donor_gain | 1.0000 |
| 7:76005254:C:CC | donor_gain | 1.0000 |
| 7:76005254:CT:C | donor_loss | 1.0000 |
| 7:76005255:TT:T | donor_loss | 1.0000 |
| 7:76005257:A:AC | donor_gain | 1.0000 |
| 7:76005257:A:C | donor_loss | 1.0000 |
| 7:76005258:C:CC | donor_gain | 1.0000 |
| 7:76005258:CA:C | donor_gain | 1.0000 |
| 7:76005258:CAA:C | donor_gain | 1.0000 |
| 7:76005258:CAAG:C | donor_gain | 1.0000 |
| 7:76005258:CAAGG:C | donor_gain | 1.0000 |
| 7:76005410:G:C | acceptor_gain | 1.0000 |
| 7:76005410:G:GC | acceptor_gain | 1.0000 |
| 7:76005412:G:C | acceptor_gain | 1.0000 |
| 7:76021988:TTTTT:T | acceptor_gain | 1.0000 |
| 7:76021994:T:C | acceptor_gain | 1.0000 |
| 7:76021994:T:TC | acceptor_gain | 1.0000 |
| 7:76028700:ACATC:A | acceptor_loss | 1.0000 |
| 7:76028701:CAT:C | acceptor_gain | 1.0000 |
| 7:76028702:ATCT:A | acceptor_loss | 1.0000 |
| 7:76028703:TCTGG:T | acceptor_loss | 1.0000 |
| 7:76028704:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
2088 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:75996524:A:G | W296R | 0.988 |
| 7:75996524:A:T | W296R | 0.988 |
| 7:76013793:G:C | F134L | 0.988 |
| 7:76013793:G:T | F134L | 0.988 |
| 7:76013794:A:G | F134S | 0.988 |
| 7:76013795:A:G | F134L | 0.988 |
| 7:76005286:A:T | V191D | 0.987 |
| 7:76028658:G:T | A50D | 0.986 |
| 7:76030421:C:G | D35H | 0.986 |
| 7:75996520:T:A | E297V | 0.985 |
| 7:76000941:A:C | S253R | 0.985 |
| 7:76000941:A:T | S253R | 0.985 |
| 7:76000943:T:G | S253R | 0.985 |
| 7:76000972:A:G | L243P | 0.983 |
| 7:76028698:G:T | R37S | 0.983 |
| 7:75996532:A:G | L293P | 0.981 |
| 7:76000965:A:C | F245L | 0.980 |
| 7:76000965:A:T | F245L | 0.980 |
| 7:76000967:A:G | F245L | 0.980 |
| 7:76013775:A:C | F140L | 0.980 |
| 7:76013775:A:T | F140L | 0.980 |
| 7:76013777:A:G | F140L | 0.980 |
| 7:76030473:A:C | N17K | 0.980 |
| 7:76030473:A:T | N17K | 0.980 |
| 7:76005293:C:G | A189P | 0.979 |
| 7:76005332:C:G | A176P | 0.979 |
| 7:76005379:G:T | P160H | 0.979 |
| 7:76013824:A:T | V124D | 0.979 |
| 7:76021931:A:T | V76E | 0.979 |
| 7:76000964:A:G | S246P | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000119984 (7:76011403 A>G), RS1000499765 (7:76026852 G>A), RS1000516748 (7:76011237 T>G), RS1000639110 (7:76021232 C>A), RS1000759506 (7:76022432 G>A), RS1000836996 (7:76000150 G>A), RS1000942139 (7:76005913 G>A), RS1000946302 (7:76044974 C>A,T), RS1001030789 (7:76032657 G>A), RS1001058500 (7:76032956 C>T), RS1001100493 (7:76038557 C>A,G), RS1001236963 (7:76000006 G>C), RS1001363947 (7:76023691 C>T), RS1001567479 (7:76008477 C>G), RS1001661820 (7:76047611 T>C)
Disease associations
OMIM: gene MIM:616695 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_52 | Mean platelet volume | 1.000000e-14 |
| GCST011124_4 | Caffeine consumption from tea | 7.000000e-22 |
| GCST011126_17 | Caffeine consumption from coffee or tea | 4.000000e-56 |
| GCST90002381_238 | Eosinophil count | 2.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010091 | tea consumption measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0004842 | eosinophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 4 |
| Tunicamycin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| daidzein | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| daidzin | affects cotreatment, decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| genistin | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| glycitein | decreases expression, affects cotreatment | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| glycitin | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Camptothecin | decreases response to substance | 1 |
| Methotrexate | decreases expression | 1 |
| Selenium | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Copper Sulfate | 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_D9TI | Ubigene HEK293 STYXL1 KO | Transformed cell line | Female |
| CVCL_E0QD | Ubigene HeLa STYXL1 KO | Cancer cell line | Female |
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.