ST8SIA6
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Summary
ST8SIA6 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6, HGNC:23317) is a protein-coding gene on chromosome 10p12.33, encoding Alpha-2,8-sialyltransferase 8F (P61647). Alpha-2,8-sialyltransferase that prefers O-glycans to N-glycans or glycolipids as acceptor substrates.
This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 338596 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 57 total
- MANE Select transcript:
NM_001004470
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23317 |
| Approved symbol | ST8SIA6 |
| Name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
| Location | 10p12.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000148488 |
| Ensembl biotype | protein_coding |
| OMIM | 610139 |
| Entrez | 338596 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000377602, ENST00000440449, ENST00000648997
RefSeq mRNA: 2 — MANE Select: NM_001004470
NM_001004470, NM_001345961
CCDS: CCDS31158
Canonical transcript exons
ENST00000377602 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000985558 | 17327014 | 17327126 |
| ENSE00000985559 | 17323065 | 17323157 |
| ENSE00001474502 | 17315421 | 17321346 |
| ENSE00001679406 | 17453559 | 17453657 |
| ENSE00001720469 | 17331408 | 17331552 |
| ENSE00001763915 | 17390531 | 17390620 |
| ENSE00001829821 | 17454155 | 17454595 |
| ENSE00003243191 | 17359514 | 17359600 |
Expression profiles
Bgee: expression breadth ubiquitous, 130 present calls, max score 76.28.
FANTOM5 (CAGE): breadth broad, TPM avg 2.9875 / max 343.7639, expressed in 583 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 108537 | 1.9457 | 481 |
| 108535 | 0.3179 | 145 |
| 108536 | 0.2445 | 114 |
| 108534 | 0.2061 | 97 |
| 108538 | 0.1574 | 87 |
| 108540 | 0.0708 | 41 |
| 108539 | 0.0451 | 14 |
Top tissues by expression
135 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.28 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 73.40 | gold quality |
| substantia nigra | UBERON:0002038 | 73.21 | gold quality |
| cerebellar vermis | UBERON:0004720 | 72.92 | gold quality |
| apex of heart | UBERON:0002098 | 71.25 | gold quality |
| heart left ventricle | UBERON:0002084 | 69.68 | gold quality |
| right atrium auricular region | UBERON:0006631 | 68.93 | gold quality |
| heart | UBERON:0000948 | 68.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 67.74 | silver quality |
| lung | UBERON:0002048 | 67.58 | gold quality |
| thymus | UBERON:0002370 | 66.86 | silver quality |
| leukocyte | CL:0000738 | 66.73 | gold quality |
| cortical plate | UBERON:0005343 | 66.44 | gold quality |
| monocyte | CL:0000576 | 66.39 | gold quality |
| hypothalamus | UBERON:0001898 | 65.28 | gold quality |
| quadriceps femoris | UBERON:0001377 | 64.88 | gold quality |
| granulocyte | CL:0000094 | 64.57 | gold quality |
| prefrontal cortex | UBERON:0000451 | 63.81 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 63.32 | gold quality |
| spinal cord | UBERON:0002240 | 63.26 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 63.24 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 62.88 | gold quality |
| Ammon’s horn | UBERON:0001954 | 62.47 | gold quality |
| right lung | UBERON:0002167 | 62.30 | gold quality |
| ganglionic eminence | UBERON:0004023 | 61.79 | gold quality |
| right coronary artery | UBERON:0001625 | 61.48 | gold quality |
| primary visual cortex | UBERON:0002436 | 61.41 | gold quality |
| caudate nucleus | UBERON:0001873 | 60.95 | gold quality |
| frontal cortex | UBERON:0001870 | 60.81 | gold quality |
| placenta | UBERON:0001987 | 60.77 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 20.85 |
| E-HCAD-25 | yes | 9.78 |
| E-CURD-112 | yes | 7.63 |
| E-ANND-3 | yes | 6.46 |
| E-ENAD-17 | no | 133.46 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
29 targeting ST8SIA6, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-4317 | 98.49 | 67.09 | 987 |
| HSA-MIR-1912-5P | 97.94 | 67.98 | 832 |
| HSA-MIR-1270 | 96.94 | 66.65 | 931 |
| HSA-MIR-620 | 96.94 | 66.79 | 888 |
Literature-anchored findings (GeneRIF, showing 8)
- NK cells consistently expressed mRNA encoding ST8Sia VI, which creates alpha2,8-linked disialic acids on O-linked glycans of glycoproteins and NK cells variably expressed high levels of ST8Sia V mRNA required for GT3 expression. (PMID:16857734)
- ST8SIA6 gene is involved in the development of multidrug resistance via PI3K/Akt pathway in chronic myeloid leukemia. (PMID:25855199)
- Genome-wide association study reveals two novel risk alleles for incident obstructive sleep apnea in the EPISONO cohort. (PMID:31786426)
- Profiling of specific long non-coding RNA signatures identifies ST8SIA6-AS1 AS a novel target for breast cancer. (PMID:33037712)
- The Diagnostic Value of Serum ST8SIA6-AS1 as Biomarker in Hepatocellular Carcinoma. (PMID:33337846)
- ST8SIA6-AS1 promotes the development of hepatocellular carcinoma cells through miR-338-3p/NONO Axis. (PMID:33722502)
- The alpha2,8-sialyltransferase 6 (St8sia6) localizes in the ER and enhances the anchorage-independent cell growth in cancer. (PMID:35390672)
- ST8SIA6-AS1 contributes to hepatocellular carcinoma progression by targeting miR-142-3p/HMGA1 axis. (PMID:36635290)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | st8sia6 | ENSDARG00000021195 |
| mus_musculus | St8sia6 | ENSMUSG00000003418 |
| rattus_norvegicus | St8sia6 | ENSRNOG00000064205 |
Paralogs (5): ST8SIA5 (ENSG00000101638), ST8SIA1 (ENSG00000111728), ST8SIA4 (ENSG00000113532), ST8SIA2 (ENSG00000140557), ST8SIA3 (ENSG00000177511)
Protein
Protein identifiers
Alpha-2,8-sialyltransferase 8F — P61647 (reviewed: P61647)
Alternative names: Sialyltransferase 8F, Sialyltransferase St8Sia VI
All UniProt accessions (3): P61647, A0A3B3ITM3, H0Y405
UniProt curated annotations — full annotation on UniProt →
Function. Alpha-2,8-sialyltransferase that prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups.
Subcellular location. Golgi apparatus membrane.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 29 family.
RefSeq proteins (2): NP_001004470, NP_001332890 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001675 | Glyco_trans_29 | Family |
| IPR012163 | Sialyl_trans | Family |
| IPR038578 | GT29-like_sf | Homologous_superfamily |
| IPR050943 | Glycosyltr_29_Sialyltrsf | Family |
Pfam: PF00777
Enzyme classification (BRENDA):
- EC 2.4.99.8 — alpha-N-acetylneuraminate alpha-2,8-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)
Catalyzed reactions (Rhea), 10 shown:
- a ganglioside GM3 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD3 (d18:1(4E)) + CMP + H(+) (RHEA:41760)
- a ganglioside GD1a (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1a (d18:1(4E)) + CMP + H(+) (RHEA:41768)
- a ganglioside GT1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GQ1b (d18:1(4E)) + CMP + H(+) (RHEA:41772)
- a ganglioside GM1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1c (d18:1(4E)) + CMP + H(+) (RHEA:47576)
- a ganglioside GM3 + CMP-N-acetyl-beta-neuraminate = a ganglioside GD3 + CMP + H(+) (RHEA:48288)
- a ganglioside GD1a + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1a + CMP + H(+) (RHEA:48912)
- a ganglioside GM1b + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1c + CMP + H(+) (RHEA:48916)
- a ganglioside GM4 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminosyl-(2->8)-N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine + CMP + H(+) (RHEA:48924)
- N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1<->1’)-ceramide + CMP-N-acetyl-beta-neuraminate = N-acetyl-alpha-neuraminosyl-(2->8)-N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1<->1’)-ceramide + CMP + H(+) (RHEA:48928)
- a ganglioside GT1b + CMP-N-acetyl-beta-neuraminate = a ganglioside GQ1b + CMP + H(+) (RHEA:48932)
UniProt features (14 total): glycosylation site 4, binding site 3, topological domain 2, disulfide bond 2, chain 1, transmembrane region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P61647-F1 | 86.04 | 0.72 |
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): 370 (proton donor/acceptor)
Ligand- & substrate-binding residues (3): 214; 236–238; 322–324
Disulfide bonds (2): 186–335, 200–395
Glycosylation sites (4): 151, 196, 66, 93
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-4085001 | Sialic acid metabolism |
| R-HSA-975577 | N-Glycan antennae elongation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446193 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-446219 | Synthesis of substrates in N-glycan biosythesis |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
| R-HSA-975576 | N-glycan antennae elongation in the medial/trans-Golgi |
MSigDB gene sets: 146 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_N_GLYCAN_PROCESSING, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS
GO Biological Process (10): ganglioside biosynthetic process (GO:0001574), blastocyst hatching (GO:0001835), N-glycan processing (GO:0006491), protein O-linked glycosylation (GO:0006493), glycoprotein metabolic process (GO:0009100), glycolipid biosynthetic process (GO:0009247), oligosaccharide metabolic process (GO:0009311), carbohydrate biosynthetic process (GO:0016051), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629)
GO Molecular Function (4): alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828), sialyltransferase activity (GO:0008373), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Asparagine N-linked glycosylation | 2 |
| Synthesis of substrates in N-glycan biosythesis | 1 |
| N-glycan antennae elongation in the medial/trans-Golgi | 1 |
| Post-translational protein modification | 1 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | 1 |
| Metabolism of proteins | 1 |
| Transport to the Golgi and subsequent modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glycoprotein biosynthetic process | 2 |
| carbohydrate metabolic process | 2 |
| ganglioside metabolic process | 1 |
| glycosphingolipid biosynthetic process | 1 |
| ceramide biosynthetic process | 1 |
| blastocyst development | 1 |
| hatching | 1 |
| protein N-linked glycosylation | 1 |
| protein metabolic process | 1 |
| carbohydrate derivative metabolic process | 1 |
| glycolipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| biosynthetic process | 1 |
| primary metabolic process | 1 |
| sialyltransferase activity | 1 |
| glycosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
714 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ST8SIA6 | AHSG | P02765 | 764 |
| ST8SIA6 | ST6GALNAC6 | Q969X2 | 634 |
| ST8SIA6 | SIGLEC7 | Q9Y286 | 614 |
| ST8SIA6 | ST3GAL6 | Q9Y274 | 544 |
| ST8SIA6 | ST6GALNAC3 | Q8NDV1 | 533 |
| ST8SIA6 | ST3GAL5 | Q9UNP4 | 491 |
| ST8SIA6 | ST3GAL4 | Q11206 | 441 |
| ST8SIA6 | SPTSSB | Q8NFR3 | 432 |
| ST8SIA6 | LCLAT1 | Q6UWP7 | 431 |
| ST8SIA6 | TSPAN19 | P0C672 | 423 |
| ST8SIA6 | LINC03043 | A4D0Y5 | 419 |
| ST8SIA6 | FAM216B | Q8N7L0 | 402 |
| ST8SIA6 | ARSI | Q5FYB1 | 390 |
| ST8SIA6 | RTL5 | Q5HYW3 | 386 |
| ST8SIA6 | MGAT4C | Q9UBM8 | 381 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (3): ST8SIA6 (Synthetic Growth Defect), ST8SIA6 (Affinity Capture-MS), XRCC6 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A6NG13, A7RX69, A8E7N9, E7F9T0, F1QWZ4, F1S5L4, I1FQB6, O15466, O35696, O43173, O97827, P23613, P38566, P48794, P61643, P61644, P61645, P61646, P61647, P61648, P70126, P85857, P97564, Q07977, Q17678, Q1LYL8, Q26974, Q4V8F8, Q5GJ77, Q5RCN4, Q61089, Q61586, Q64689, Q64690, Q64692, Q66KL4, Q6ZXC8, Q6ZXC9, Q765H6, Q80TS3
Diamond homologs: O15466, O35696, O43173, P61642, P61643, P61644, P61645, P61646, P61647, P61648, P70126, Q07977, Q11200, Q64687, Q64689, Q64690, Q64692, Q6DNG6, Q6H8M7, Q6ZXA0, Q6ZXC8, Q6ZXC9, Q6ZXD2, Q8K4T1, Q92185, Q92186, Q92187, A2WX64, A2XVC2, A2ZI41, P13721, P61132, Q11203, Q11204, Q16842, Q2QXM3, Q2R2B1, Q64685, Q6KB58, Q6ZH45
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2259 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:17321344:TAT:T | acceptor_gain | 1.0000 |
| 10:17321345:ATC:A | acceptor_loss | 1.0000 |
| 10:17321346:TC:T | acceptor_loss | 1.0000 |
| 10:17321347:C:CC | acceptor_gain | 1.0000 |
| 10:17323060:CTT:C | donor_loss | 1.0000 |
| 10:17323061:TTA:T | donor_loss | 1.0000 |
| 10:17323062:TA:T | donor_loss | 1.0000 |
| 10:17323063:A:AC | donor_gain | 1.0000 |
| 10:17323063:AC:A | donor_loss | 1.0000 |
| 10:17323064:C:CC | donor_gain | 1.0000 |
| 10:17323064:CTT:C | donor_gain | 1.0000 |
| 10:17323064:CTTCA:C | donor_gain | 1.0000 |
| 10:17325994:T:TA | donor_gain | 1.0000 |
| 10:17331407:CCA:C | donor_gain | 1.0000 |
| 10:17390627:CA:C | acceptor_gain | 1.0000 |
| 10:17390628:A:C | acceptor_gain | 1.0000 |
| 10:17394259:TGGGG:T | donor_gain | 1.0000 |
| 10:17321342:CATAT:C | acceptor_gain | 0.9900 |
| 10:17321343:ATAT:A | acceptor_gain | 0.9900 |
| 10:17321351:C:CT | acceptor_gain | 0.9900 |
| 10:17323057:CTACT:C | donor_loss | 0.9900 |
| 10:17323058:TACTT:T | donor_loss | 0.9900 |
| 10:17323059:ACTTA:A | donor_loss | 0.9900 |
| 10:17323063:ACTT:A | donor_gain | 0.9900 |
| 10:17323064:CT:C | donor_gain | 0.9900 |
| 10:17323064:CTTC:C | donor_gain | 0.9900 |
| 10:17323153:TACAC:T | acceptor_gain | 0.9900 |
| 10:17323155:CAC:C | acceptor_gain | 0.9900 |
| 10:17323156:ACC:A | acceptor_loss | 0.9900 |
| 10:17323158:CTGA:C | acceptor_loss | 0.9900 |
AlphaMissense
2617 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:17321088:A:C | S329R | 0.997 |
| 10:17321088:A:T | S329R | 0.997 |
| 10:17321090:T:G | S329R | 0.997 |
| 10:17321083:G:T | A331E | 0.994 |
| 10:17323151:G:C | N214K | 0.994 |
| 10:17323151:G:T | N214K | 0.994 |
| 10:17327092:C:G | C186S | 0.993 |
| 10:17327093:A:T | C186S | 0.993 |
| 10:17320967:G:C | H370D | 0.992 |
| 10:17321046:G:C | F343L | 0.992 |
| 10:17321046:G:T | F343L | 0.992 |
| 10:17321048:A:G | F343L | 0.992 |
| 10:17321071:C:G | C335S | 0.992 |
| 10:17321071:C:T | C335Y | 0.992 |
| 10:17321072:A:T | C335S | 0.992 |
| 10:17321070:A:C | C335W | 0.991 |
| 10:17321072:A:G | C335R | 0.991 |
| 10:17321144:A:G | W311R | 0.991 |
| 10:17321144:A:T | W311R | 0.991 |
| 10:17327083:A:T | V189D | 0.991 |
| 10:17327093:A:G | C186R | 0.991 |
| 10:17321084:C:G | A331P | 0.990 |
| 10:17321110:G:A | S322F | 0.990 |
| 10:17321117:G:T | R320S | 0.990 |
| 10:17321142:C:A | W311C | 0.990 |
| 10:17321142:C:G | W311C | 0.990 |
| 10:17327014:C:A | R212M | 0.990 |
| 10:17327020:A:T | V210D | 0.990 |
| 10:17321116:C:G | R320P | 0.989 |
| 10:17323157:C:A | R212S | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000023944 (10:17434666 C>G,T), RS1000035308 (10:17341590 A>G), RS1000038980 (10:17358819 C>A,T), RS1000069208 (10:17357365 T>G), RS1000071576 (10:17352488 A>T), RS1000075909 (10:17420343 C>G,T), RS1000091975 (10:17389854 G>A,C), RS1000092471 (10:17428626 C>T), RS1000106161 (10:17437952 A>G), RS1000174232 (10:17375771 A>C), RS1000232364 (10:17454785 T>A), RS1000260037 (10:17363741 A>T), RS1000273964 (10:17451788 A>C,G), RS1000286864 (10:17446050 C>T), RS1000317323 (10:17330618 A>C)
Disease associations
OMIM: gene MIM:610139 | 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 |
|---|---|---|
| GCST000323_12 | Response to treatment for acute lymphoblastic leukemia | 9.000000e-08 |
| GCST004691_19 | Huntington’s disease progression | 9.000000e-06 |
| GCST005166_10 | GIP levels in response to oral glucose tolerance test (120 minutes) | 9.000000e-06 |
| GCST006585_2487 | Blood protein levels | 3.000000e-07 |
| GCST008790_36 | Urinary albumin-to-creatinine ratio | 3.000000e-11 |
| GCST008791_23 | Microalbuminuria | 1.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008336 | disease progression measurement |
| EFO:0004307 | glucose tolerance test |
| EFO:0008464 | glucose-dependent insulinotropic peptide measurement |
| EFO:0007778 | urinary albumin to creatinine ratio |
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
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| nickel sulfate | increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coumestrol | affects cotreatment, increases expression, affects reaction | 1 |
| Oxygen | increases expression | 1 |
| Valproic Acid | decreases methylation | 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): acute lymphoblastic leukemia, Huntington disease