STX8
gene geneOn this page
Also known as CARB
Summary
STX8 (syntaxin 8, HGNC:11443) is a protein-coding gene on chromosome 17p13.1, encoding Syntaxin-8 (Q9UNK0). Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER.
The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9482 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_004853
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11443 |
| Approved symbol | STX8 |
| Name | syntaxin 8 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CARB |
| Ensembl gene | ENSG00000170310 |
| Ensembl biotype | protein_coding |
| OMIM | 604203 |
| Entrez | 9482 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 5 protein_coding_CDS_not_defined, 4 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000306357, ENST00000570583, ENST00000570987, ENST00000573016, ENST00000573077, ENST00000573373, ENST00000573881, ENST00000574382, ENST00000574431, ENST00000574775, ENST00000575294, ENST00000575858, ENST00000951848
RefSeq mRNA: 1 — MANE Select: NM_004853
NM_004853
CCDS: CCDS32565
Canonical transcript exons
ENST00000306357 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002644691 | 9575792 | 9575820 |
| ENSE00003541249 | 9545172 | 9545282 |
| ENSE00003561682 | 9250471 | 9250645 |
| ENSE00003586284 | 9378552 | 9378653 |
| ENSE00003609821 | 9491829 | 9491921 |
| ENSE00003639795 | 9505038 | 9505162 |
| ENSE00003703352 | 9568371 | 9568470 |
| ENSE00003710971 | 9557434 | 9557528 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 97.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.4035 / max 398.8763, expressed in 1798 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164496 | 17.3259 | 1798 |
| 164494 | 0.0775 | 28 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.62 | gold quality |
| left testis | UBERON:0004533 | 96.86 | gold quality |
| right testis | UBERON:0004534 | 96.81 | gold quality |
| male germ cell | CL:0000015 | 96.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.98 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.79 | gold quality |
| oocyte | CL:0000023 | 95.77 | gold quality |
| testis | UBERON:0000473 | 95.77 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.65 | gold quality |
| lower esophagus | UBERON:0013473 | 95.63 | gold quality |
| tendon | UBERON:0000043 | 95.51 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.32 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.31 | gold quality |
| popliteal artery | UBERON:0002250 | 95.29 | gold quality |
| tibial artery | UBERON:0007610 | 95.29 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.29 | gold quality |
| aorta | UBERON:0000947 | 95.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.02 | gold quality |
| ascending aorta | UBERON:0001496 | 94.91 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.89 | gold quality |
| left coronary artery | UBERON:0001626 | 94.84 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.80 | gold quality |
| monocyte | CL:0000576 | 94.68 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.67 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.63 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.62 | gold quality |
| coronary artery | UBERON:0001621 | 94.45 | gold quality |
| leukocyte | CL:0000738 | 94.43 | gold quality |
| mononuclear cell | CL:0000842 | 94.42 | gold quality |
| granulocyte | CL:0000094 | 94.30 | 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
miRNA regulators (miRDB)
12 targeting STX8, 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-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-3147 | 99.52 | 66.34 | 388 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-4736 | 97.96 | 65.89 | 1287 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-597-5P | 96.82 | 67.57 | 732 |
Literature-anchored findings (GeneRIF, showing 12)
- There are increases in CARB localized to intraneuronal neurofibrillary tangles and granulovacuolar degeneration in susceptible hippocampal and cortical neurons in Alzheimer’s disease. (PMID:14991845)
- syntaxin 8 contributes to the regulation of CFTR trafficking and chloride channel activity by the SNARE machinery (PMID:15039462)
- Has two functionally distinct di-leucine-based motifs that act independently in its endocytic and exocytic processes. (PMID:17965969)
- Results report that syntaxin 7, syntaxin 8, vti1b and VAMP8 physically and functionally interact with CFTR. (PMID:18570918)
- Palmitoylation does not affect the rate of protein turnover of syntaxins 7 and 8 nor does it influence the steady-state localization of syntaxin 8 in late endosomes. (PMID:18980942)
- These results suggest that STX8 mediates the recycling of CLDN16 and constitutes an important component of the CLDN16 trafficking machinery in the kidney. (PMID:24659781)
- Syntaxin-8 regulates the endocytosis of TASK-1. (PMID:24743596)
- Syntaxin 8 has a role in regulating platelet dense granule secretion, aggregation, and thrombus stability (PMID:25404741)
- Increased STX8 expression in visceral adipose tissue appears to be associated with the presence of type 2 diabetes in obese patients through a mechanism that may involve GLUT4. (PMID:25523146)
- Stx8 is required for proper and timely sorting and trafficking of cytotoxic molecules to functional lytic granules through the endosomal pathway in human cytotoxic t-lymphocytes. (PMID:27094127)
- STX8 silencing restores the function ofDeltaF508-CFTR. (PMID:30485852)
- Smuggle tau through a secret(ory) pathway. (PMID:34319403)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stx8 | ENSDARG00000103173 |
| mus_musculus | Stx8 | ENSMUSG00000020903 |
| rattus_norvegicus | Stx8 | ENSRNOG00000003849 |
| drosophila_melanogaster | Syx6 | FBGN0037084 |
| caenorhabditis_elegans | WBGENE00015789 |
Paralogs (2): STX10 (ENSG00000104915), STX6 (ENSG00000135823)
Protein
Protein identifiers
Syntaxin-8 — Q9UNK0 (reviewed: Q9UNK0)
All UniProt accessions (5): Q9UNK0, I3L305, I3L3D0, K7EQB1, K7ER37
UniProt curated annotations — full annotation on UniProt →
Function. Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER.
Subunit / interactions. Forms a SNARE complex with STX7, VTI1B and VAMP8 which functions in the homotypic fusion of late endosomes. Part of the SNARE core complex containing STX7, VAMP8 and VTI1B. Interacts with VAMP8. Interacts with HECTD3. Interacts with TPC1.
Subcellular location. Membrane.
Tissue specificity. Highly expressed in heart. Also found in brain, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.
Post-translational modifications. Ubiquitinated by HECTD3.
Similarity. Belongs to the syntaxin family.
RefSeq proteins (1): NP_004844* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000727 | T_SNARE_dom | Domain |
| IPR041875 | Syntaxin-8_SNARE | Domain |
| IPR045242 | Syntaxin | Family |
Pfam: PF05739
UniProt features (8 total): topological domain 2, chain 1, transmembrane region 1, domain 1, coiled-coil region 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNK0-F1 | 76.58 | 0.19 |
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 (1): 160
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 167 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_MEMBRANE_DOCKING, GOCC_TRANS_GOLGI_NETWORK, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_ORGANELLE_MEMBRANE_FUSION, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, SCHLOSSER_SERUM_RESPONSE_DN
GO Biological Process (6): intracellular protein transport (GO:0006886), vesicle fusion (GO:0006906), early endosome to late endosome transport (GO:0045022), obsolete vesicle docking (GO:0048278), cellular response to type II interferon (GO:0071346), regulation of protein localization to plasma membrane (GO:1903076)
GO Molecular Function (6): SNARE binding (GO:0000149), SNAP receptor activity (GO:0005484), chloride channel inhibitor activity (GO:0019869), syntaxin binding (GO:0019905), ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)
GO Cellular Component (14): endosome (GO:0005768), early endosome (GO:0005769), late endosome (GO:0005770), endoplasmic reticulum (GO:0005783), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), endomembrane system (GO:0012505), SNARE complex (GO:0031201), vesicle (GO:0031982), phagocytic vesicle (GO:0045335), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 5 |
| endomembrane system | 3 |
| endosome | 3 |
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle organization | 1 |
| vesicle-mediated transport | 1 |
| organelle membrane fusion | 1 |
| vesicle-mediated transport between endosomal compartments | 1 |
| response to type II interferon | 1 |
| cellular response to cytokine stimulus | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to cell periphery | 1 |
| regulation of protein localization to membrane | 1 |
| protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| chloride channel activity | 1 |
| ion channel inhibitor activity | 1 |
| chloride channel regulator activity | 1 |
| SNARE binding | 1 |
| ubiquitin-like protein ligase binding | 1 |
| binding | 1 |
| cytoplasmic vesicle | 1 |
| Golgi apparatus subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| membrane protein complex | 1 |
| membrane-bounded organelle | 1 |
| endocytic vesicle | 1 |
Protein interactions and networks
STRING
1370 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STX8 | STX7 | O15400 | 999 |
| STX8 | VTI1B | Q9UEU0 | 996 |
| STX8 | VAMP8 | Q9BV40 | 994 |
| STX8 | VAMP7 | P51809 | 978 |
| STX8 | STX12 | Q86Y82 | 936 |
| STX8 | STX3 | Q13277 | 886 |
| STX8 | STX4 | Q12846 | 863 |
| STX8 | SNAP29 | O95721 | 860 |
| STX8 | VPS33A | Q96AX1 | 830 |
| STX8 | STX1A | Q16623 | 816 |
| STX8 | STX16 | O14662 | 813 |
| STX8 | TXLNB | Q8N3L3 | 763 |
| STX8 | TXLNG | Q9NUQ3 | 760 |
| STX8 | VPS33B | Q9H267 | 741 |
| STX8 | NAPA | P54920 | 737 |
IntAct
388 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX8 | VTI1B | psi-mi:“MI:0915”(physical association) | 0.920 |
| STX8 | STX4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| STX4 | STX8 | psi-mi:“MI:0915”(physical association) | 0.780 |
| AP1S2 | AP1G1 | psi-mi:“MI:0914”(association) | 0.670 |
| STX5 | STX8 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| GPR156 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| ASPH | STXBP3 | psi-mi:“MI:0914”(association) | 0.640 |
| STAMBPL1 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| JSRP1 | STX8 | psi-mi:“MI:0915”(physical association) | 0.630 |
| TMED8 | STX8 | psi-mi:“MI:0915”(physical association) | 0.600 |
| STX8 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| STX8 | CD79A | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | TMPPE | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | MTERF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | GPR42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | GPR151 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | NDUFAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | AMIGO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | FNDC9 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (363): STX8 (Two-hybrid), STX8 (Affinity Capture-Western), STX8 (Affinity Capture-Western), STX8 (Affinity Capture-Western), STX8 (Affinity Capture-Western), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS), STX8 (Affinity Capture-MS)
ESM2 similar proteins: G3V7P1, O08522, O14662, O15400, O22151, O43752, O49377, O60499, O64791, O70257, O70439, O70480, O75379, O88384, O88630, O88983, O95249, P58200, Q08851, Q08DB5, Q13190, Q2KIU0, Q2TBU3, Q32L97, Q3T075, Q3ZBT5, Q5R602, Q5R6Q2, Q5RBL6, Q5RBW6, Q5RF94, Q5SRX1, Q5ZL19, Q62931, Q63635, Q86Y82, Q8BVI5, Q8K1E0, Q944A9, Q946Y7
Diamond homologs: O88983, P83528, Q3T075, Q63635, Q9JKK1, Q9UNK0, Q9Z2Q7, O43752, O60499, Q54IX6, Q5R6Q2, Q5ZL19, Q946Y7, Q9HGN3, O14222, Q553P5, Q9SA23
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HECTD3 | “down-regulates quantity by destabilization” | STX8 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 131 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 |
|---|---|---|---|
| trans-Golgi Network Vesicle Budding | 8 | 23.9× | 9e-08 |
| Golgi Associated Vesicle Biogenesis | 10 | 23.6× | 1e-09 |
| Intra-Golgi traffic | 6 | 18.3× | 5e-05 |
| Retrograde transport at the Trans-Golgi-Network | 6 | 15.5× | 9e-05 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 8 | 9.9× | 7e-05 |
| COPII-mediated vesicle transport | 5 | 9.6× | 6e-03 |
| Membrane Trafficking | 18 | 7.8× | 1e-09 |
| Vesicle-mediated transport | 18 | 7.4× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking | 9 | 61.5× | 3e-12 |
| vesicle fusion | 8 | 43.0× | 2e-09 |
| membrane fusion | 5 | 27.9× | 1e-04 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 5 | 15.1× | 1e-03 |
| intracellular protein transport | 19 | 11.0× | 3e-12 |
| exocytosis | 7 | 9.5× | 9e-04 |
| cellular response to type II interferon | 5 | 9.3× | 9e-03 |
| retrograde transport, endosome to Golgi | 5 | 9.2× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3916 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:9378652:CT:C | acceptor_gain | 1.0000 |
| 17:9378654:C:CC | acceptor_gain | 1.0000 |
| 17:9491917:CTGTT:C | acceptor_gain | 1.0000 |
| 17:9491918:TGTT:T | acceptor_gain | 1.0000 |
| 17:9491919:GTT:G | acceptor_gain | 1.0000 |
| 17:9491920:TT:T | acceptor_gain | 1.0000 |
| 17:9491921:TCTG:T | acceptor_loss | 1.0000 |
| 17:9491922:C:CC | acceptor_gain | 1.0000 |
| 17:9491922:C:CG | acceptor_loss | 1.0000 |
| 17:9491923:T:C | acceptor_loss | 1.0000 |
| 17:9557424:A:AC | donor_gain | 1.0000 |
| 17:9557425:C:CC | donor_gain | 1.0000 |
| 17:9557433:CAT:C | donor_gain | 1.0000 |
| 17:9557459:G:C | donor_gain | 1.0000 |
| 17:9557467:T:TA | donor_gain | 1.0000 |
| 17:9378550:A:AC | donor_gain | 0.9900 |
| 17:9378551:C:CC | donor_gain | 0.9900 |
| 17:9378551:CCA:C | donor_gain | 0.9900 |
| 17:9378649:TATCT:T | acceptor_gain | 0.9900 |
| 17:9450992:A:T | acceptor_gain | 0.9900 |
| 17:9491823:TCTTA:T | donor_loss | 0.9900 |
| 17:9491824:CTTAC:C | donor_loss | 0.9900 |
| 17:9491825:TTAC:T | donor_loss | 0.9900 |
| 17:9491826:TA:T | donor_loss | 0.9900 |
| 17:9491827:A:AC | donor_gain | 0.9900 |
| 17:9491828:C:CC | donor_gain | 0.9900 |
| 17:9491828:C:CT | donor_loss | 0.9900 |
| 17:9494779:ACGAT:A | donor_gain | 0.9900 |
| 17:9494780:CGATC:C | donor_gain | 0.9900 |
| 17:9494853:T:TA | donor_gain | 0.9900 |
AlphaMissense
1550 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:9491879:C:G | R164P | 0.997 |
| 17:9491906:A:G | L155P | 0.995 |
| 17:9545258:T:A | R79S | 0.995 |
| 17:9545258:T:G | R79S | 0.995 |
| 17:9545259:C:G | R79T | 0.995 |
| 17:9378638:A:G | L186P | 0.994 |
| 17:9491897:A:G | L158P | 0.993 |
| 17:9491897:A:T | L158H | 0.993 |
| 17:9250621:A:C | L223R | 0.992 |
| 17:9491885:A:T | I162K | 0.992 |
| 17:9491865:C:G | G169R | 0.991 |
| 17:9491865:C:T | G169R | 0.991 |
| 17:9250621:A:G | L223P | 0.990 |
| 17:9491906:A:T | L155H | 0.990 |
| 17:9545262:C:G | R78P | 0.990 |
| 17:9250612:G:T | A226D | 0.989 |
| 17:9378605:A:G | L197P | 0.989 |
| 17:9575793:A:G | W6R | 0.989 |
| 17:9575793:A:T | W6R | 0.989 |
| 17:9491864:C:T | G169E | 0.988 |
| 17:9491918:T:G | Q151P | 0.988 |
| 17:9545238:A:G | L86P | 0.988 |
| 17:9491895:A:G | S159P | 0.987 |
| 17:9491876:T:G | Q165P | 0.986 |
| 17:9491901:C:G | A157P | 0.986 |
| 17:9557494:A:G | L51P | 0.986 |
| 17:9250621:A:T | L223Q | 0.985 |
| 17:9491865:C:A | G169W | 0.983 |
| 17:9250618:A:C | L224R | 0.982 |
| 17:9491834:T:G | Q179P | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000000024 (17:9264852 G>A), RS1000003369 (17:9385261 G>A,C), RS1000013017 (17:9399100 C>T), RS1000014621 (17:9551749 T>A), RS1000028286 (17:9500019 A>G), RS1000031205 (17:9421678 C>A,T), RS1000033883 (17:9565511 G>A), RS1000042235 (17:9474920 T>C), RS1000075634 (17:9455405 C>G,T), RS1000078945 (17:9559714 A>G,T), RS1000089356 (17:9520074 C>A), RS1000109701 (17:9302750 A>G), RS1000115725 (17:9252938 G>A), RS1000121388 (17:9521153 G>C), RS1000123680 (17:9574121 A>T)
Disease associations
OMIM: gene MIM:604203 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004641_6 | Borderline personality disorder | 3.000000e-06 |
| GCST004763_3 | HDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes | 1.000000e-06 |
| GCST005051_29 | Obstructive sleep apnea trait (apnea hypopnea index) | 4.000000e-07 |
| GCST006585_2988 | Blood protein levels | 1.000000e-07 |
| GCST010396_114 | Gut microbiota (bacterial taxa, hurdle binary method) | 7.000000e-07 |
| GCST010703_159 | Brain morphology (MOSTest) | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007805 | HDL cholesterol change measurement |
| EFO:0007817 | sleep apnea measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 7 |
| Aflatoxin B1 | affects expression, decreases expression, increases methylation | 5 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| bisphenol S | increases expression, affects cotreatment | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| corosolic acid | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gasoline | increases abundance, affects cotreatment, decreases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Mustard Gas | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
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 cancer