ST8SIA3
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Summary
ST8SIA3 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3, HGNC:14269) is a protein-coding gene on chromosome 18q21.31, encoding Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3 (O43173). Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an acceptor, such as N-linked oligosaccharides of glycoproteins and glycolipids through alpha-2,8-linkages.
Enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity and identical protein binding activity. Involved in several processes, including ganglioside biosynthetic process; glycoprotein metabolic process; and sialylation. Predicted to be located in Golgi membrane.
Source: NCBI Gene 51046 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 38 total
- MANE Select transcript:
NM_015879
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14269 |
| Approved symbol | ST8SIA3 |
| Name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
| Location | 18q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000177511 |
| Ensembl biotype | protein_coding |
| OMIM | 609478 |
| Entrez | 51046 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000324000, ENST00000586360, ENST00000590600
RefSeq mRNA: 1 — MANE Select: NM_015879
NM_015879
CCDS: CCDS32834
Canonical transcript exons
ENST00000324000 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001245866 | 57356913 | 57357470 |
| ENSE00001245874 | 57354402 | 57354524 |
| ENSE00001245879 | 57352557 | 57353025 |
| ENSE00001245889 | 57359995 | 57368931 |
Expression profiles
Bgee: expression breadth ubiquitous, 143 present calls, max score 97.89.
FANTOM5 (CAGE): breadth broad, TPM avg 10.6708 / max 1349.2397, expressed in 260 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170351 | 6.8798 | 195 |
| 170353 | 1.5874 | 180 |
| 170350 | 0.8941 | 127 |
| 170354 | 0.4303 | 104 |
| 170352 | 0.2501 | 78 |
| 170347 | 0.2263 | 79 |
| 170356 | 0.1387 | 64 |
| 170348 | 0.1021 | 39 |
| 170355 | 0.0895 | 52 |
| 170349 | 0.0724 | 35 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 97.89 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.59 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.34 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.98 | gold quality |
| putamen | UBERON:0001874 | 96.96 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.80 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.77 | gold quality |
| amygdala | UBERON:0001876 | 94.36 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.32 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.25 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.19 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.03 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.95 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.74 | gold quality |
| temporal lobe | UBERON:0001871 | 93.28 | gold quality |
| entorhinal cortex | UBERON:0002728 | 93.23 | gold quality |
| Ammon’s horn | UBERON:0001954 | 93.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.97 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.71 | gold quality |
| parietal lobe | UBERON:0001872 | 92.63 | gold quality |
| telencephalon | UBERON:0001893 | 92.55 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.46 | gold quality |
| cerebellum | UBERON:0002037 | 91.76 | gold quality |
| forebrain | UBERON:0001890 | 91.61 | gold quality |
| frontal cortex | UBERON:0001870 | 91.56 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.54 | gold quality |
| occipital lobe | UBERON:0002021 | 91.36 | gold quality |
| neocortex | UBERON:0001950 | 91.11 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.04 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
325 targeting ST8SIA3, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
Literature-anchored findings (GeneRIF, showing 2)
- These results suggest that the expression of hST8Sia III gene via the PI-3K signaling pathway is enhanced during KCl-induced differentiation of U-87 cells by increasing expression of beta-tubulin III. (PMID:16643848)
- Data indicate that the crystal structure of ST8SiaIII sialyltransferase show a cluster of polysialyltransferase-specific structural motifs that provide an extended electropositive surface groove for binding of oligo-polysialic acid chain products. (PMID:26192331)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | st8sia3 | ENSDARG00000045301 |
| mus_musculus | St8sia3 | ENSMUSG00000056812 |
| rattus_norvegicus | St8sia3 | ENSRNOG00000018305 |
Paralogs (5): ST8SIA5 (ENSG00000101638), ST8SIA1 (ENSG00000111728), ST8SIA4 (ENSG00000113532), ST8SIA2 (ENSG00000140557), ST8SIA6 (ENSG00000148488)
Protein
Protein identifiers
Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3 — O43173 (reviewed: O43173)
Alternative names: Alpha-2,8-sialyltransferase 8C, Alpha-2,8-sialyltransferase III, Ganglioside GD3 synthase ST8SIA3, ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3, Sia-a2,3-Gal-b1,4-Glc-NAc-R:a2,8-sialyltransferase, Sialyltransferase 8C, Sialyltransferase St8Sia III
All UniProt accessions (2): O43173, K7EQB3
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an acceptor, such as N-linked oligosaccharides of glycoproteins and glycolipids through alpha-2,8-linkages. Forms oligosialic and polysialic acid on various sialylated N-acetyllactosamine oligosaccharides of glycoproteins, including FETUB N-glycans, a2-HS-glycoprotein (AHSG) and alpha 2,3-sialylated glycosphingolipids, such as alpha 2,3-sialylparagloboside and ganglioside GM3 and to a lesser extent NCAM1 N-glycans. However, it is much more specific to N-linked oligosaccharides of glycoproteins than glycosphingolipids. 2,3-sialylparagloboside serves as the best acceptor substrate among the glycolipids. alpha-Neu5Ac-(2->8)-alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-6S-D-GlcNAc and monosialyl and disialyl N-acetyllactosamines are the best acceptor substrates among glycoproteins. May plays critical role in the striatum by mediating the formation of disialylated and trisialylated terminal glycotopes on N- and O-glycans of specific striatal proteins, regulating their distribution in lipid rafts, affecting their interaction with other binding partners, and subsequently modulating striatal functions.
Subunit / interactions. Homodimer.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in fetal and adult brain and fetal liver.
Post-translational modifications. Autopolysialylated.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 29 family.
RefSeq proteins (1): NP_056963* (*=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), 6 shown:
- an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->8)-N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl derivative + CMP + H(+) (RHEA:19313)
- a ganglioside GM3 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD3 (d18:1(4E)) + CMP + H(+) (RHEA:41760)
- a ganglioside GM3 + CMP-N-acetyl-beta-neuraminate = a ganglioside GD3 + CMP + H(+) (RHEA:48288)
- N-acetyl-alpha-D-neuraminosyl-(2->8) + CMP-N-acetyl-beta-neuraminate = N-acetyl-alpha-D-neuraminosyl-(2->8) + CMP + H(+) (RHEA:77367)
- an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + CMP-N-acetyl-beta-neuraminate = an alpha-Neu5Ac-(2->8)-alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc derivative + CMP + H(+) (RHEA:77387)
- alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-6S-D-GlcNAc + CMP-N-acetyl-beta-neuraminate = alpha-Neu5Ac-(2->8)-alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-6S-D-GlcNAc + CMP + H(+) (RHEA:77391)
UniProt features (55 total): helix 16, strand 9, binding site 8, glycosylation site 4, turn 4, mutagenesis site 3, sequence conflict 3, topological domain 2, disulfide bond 2, chain 1, sequence variant 1, transmembrane region 1, active site 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5BO7 | X-RAY DIFFRACTION | 1.85 |
| 5BO6 | X-RAY DIFFRACTION | 2.07 |
| 5CXY | X-RAY DIFFRACTION | 2.15 |
| 5BO9 | X-RAY DIFFRACTION | 2.3 |
| 5BO8 | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43173-F1 | 86.77 | 0.74 |
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): 354 (proton donor/acceptor)
Ligand- & substrate-binding residues (8): 322; 336; 337; 167; 190; 300; 301; 302
Disulfide bonds (2): 162–313, 176–379
Glycosylation sites (4): 93, 113, 160, 206
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 190 | loss of alpha-n-acetylneuraminate alpha-2,8-sialyltransferase activity. |
| 337 | loss of alpha-n-acetylneuraminate alpha-2,8-sialyltransferase activity. |
| 354 | abolishes enzyme activity. |
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: 165 (showing top):
GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_N_GLYCAN_PROCESSING, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, LHX3_01, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, BRN2_01, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_GANGLIOSIDE_BIOSYNTHETIC_PROCESS
GO Biological Process (8): ganglioside biosynthetic process (GO:0001574), N-glycan processing (GO:0006491), glycosphingolipid biosynthetic process (GO:0006688), glycoprotein metabolic process (GO:0009100), glycoprotein biosynthetic process (GO:0009101), oligosaccharide metabolic process (GO:0009311), sialylation (GO:0097503), obsolete protein glycosylation (GO:0006486)
GO Molecular Function (6): alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828), sialic acid binding (GO:0033691), identical protein binding (GO:0042802), 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 |
|---|---|
| ganglioside metabolic process | 1 |
| glycosphingolipid biosynthetic process | 1 |
| ceramide biosynthetic process | 1 |
| protein N-linked glycosylation | 1 |
| glycoprotein biosynthetic process | 1 |
| glycosphingolipid metabolic process | 1 |
| glycolipid biosynthetic process | 1 |
| sphingolipid biosynthetic process | 1 |
| protein metabolic process | 1 |
| carbohydrate derivative metabolic process | 1 |
| macromolecule biosynthetic process | 1 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| carbohydrate metabolic process | 1 |
| macromolecule modification | 1 |
| sialyltransferase activity | 1 |
| carboxylic acid binding | 1 |
| carbohydrate derivative binding | 1 |
| protein binding | 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
1419 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ST8SIA3 | NCAM1 | P13591 | 778 |
| ST8SIA3 | DEFB112 | Q30KQ8 | 475 |
| ST8SIA3 | MGAT5B | Q3V5L5 | 414 |
| ST8SIA3 | ACCSL | Q4AC99 | 411 |
| ST8SIA3 | CCER2 | I3L3R5 | 408 |
| ST8SIA3 | RIPOR2 | Q9Y4F9 | 404 |
| ST8SIA3 | NEU4 | Q8WWR8 | 402 |
| ST8SIA3 | B3GALT4 | O96024 | 390 |
| ST8SIA3 | B3GNT8 | Q7Z7M8 | 389 |
| ST8SIA3 | CELSR1 | Q9NYQ6 | 387 |
| ST8SIA3 | GALNT4 | Q8N4A0 | 387 |
| ST8SIA3 | DENND5B | Q6ZUT9 | 386 |
| ST8SIA3 | SRD5A2 | P31213 | 384 |
| ST8SIA3 | B4GALT2 | O60909 | 383 |
| ST8SIA3 | GALNT6 | Q8NCL4 | 379 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ST8SIA3 | ST8SIA3 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| ST8SIA3 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ST8SIA3 | B3GAT3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): KLRG2 (Affinity Capture-MS), UBA52 (Affinity Capture-MS), YTHDF1 (Affinity Capture-MS), NRP2 (Affinity Capture-MS), TMEM11 (Affinity Capture-MS), ITGB5 (Affinity Capture-MS), AMIGO1 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), SLC30A6 (Affinity Capture-MS), CANX (Affinity Capture-MS), NRP2 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), PRKACG (Affinity Capture-MS), KLRG2 (Affinity Capture-MS)
ESM2 similar proteins: A0ZSE6, A0ZT23, A4KX75, A5PLH4, A7MB71, F4IAL1, G0SDN0, O43173, P09534, P25656, P34389, P38566, P42838, P51578, P53740, P61644, P86091, Q09884, Q10351, Q17678, Q1MTQ5, Q25197, Q25410, Q2T9P5, Q3TT99, Q64663, Q64689, Q66KL4, Q6DE06, Q6ZXC8, Q7RTY8, Q86XS5, Q8BIK6, Q8IA41, Q8IA44, Q91VE2, Q94316, Q95JK4, Q96WW4, Q99572
Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O35696, O43173, P61132, P61643, P61644, P61645, P97325, Q02734, Q07977, Q11203, Q2QXM3, Q5K027, Q5QQ37, Q64689, Q64690, Q64692, Q6ZXC9, Q701R0, Q701R1, Q701R2, Q701R3, Q701R4, Q76K27, Q7FA29, Q92183, Q92186, Q92187, Q94DD4, Q96JF0, Q9SGD2, Q9UJ37, Q16842, Q2R2B1, Q6KB58, Q6ZH45, Q8VZJ0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
733 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:57360128:G:T | donor_gain | 1.0000 |
| 18:57353024:CGGT:C | donor_loss | 0.9900 |
| 18:57353026:G:A | donor_loss | 0.9900 |
| 18:57353027:TGAG:T | donor_loss | 0.9900 |
| 18:57353028:GAGT:G | donor_loss | 0.9900 |
| 18:57360128:G:GT | donor_gain | 0.9900 |
| 18:57360207:C:G | donor_gain | 0.9900 |
| 18:57353026:G:GG | donor_gain | 0.9800 |
| 18:57357178:A:AG | acceptor_gain | 0.9800 |
| 18:57360162:G:GT | donor_gain | 0.9800 |
| 18:57356551:TGAG:T | acceptor_gain | 0.9700 |
| 18:57360291:A:T | donor_gain | 0.9700 |
| 18:57356552:GAGC:G | acceptor_gain | 0.9400 |
| 18:57357384:GACA:G | donor_gain | 0.9400 |
| 18:57368565:GAA:G | acceptor_gain | 0.9300 |
| 18:57356554:G:T | acceptor_gain | 0.9200 |
| 18:57358295:A:G | acceptor_gain | 0.9200 |
| 18:57360239:G:GT | donor_gain | 0.9200 |
| 18:57360239:G:T | donor_gain | 0.9200 |
| 18:57353923:G:GT | donor_gain | 0.9100 |
| 18:57356598:C:G | acceptor_gain | 0.9100 |
| 18:57356599:A:AG | acceptor_gain | 0.9100 |
| 18:57357288:GGACC:G | donor_gain | 0.9100 |
| 18:57357289:GACCG:G | donor_gain | 0.9100 |
| 18:57353883:G:GG | donor_gain | 0.9000 |
| 18:57357179:A:G | acceptor_gain | 0.9000 |
| 18:57352975:G:GG | donor_gain | 0.8900 |
| 18:57353878:GCGGA:G | donor_gain | 0.8900 |
| 18:57357290:A:T | donor_gain | 0.8800 |
| 18:57360206:GC:G | donor_gain | 0.8700 |
AlphaMissense
2514 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:57357094:T:A | C162S | 1.000 |
| 18:57357094:T:C | C162R | 1.000 |
| 18:57357095:G:A | C162Y | 1.000 |
| 18:57357095:G:C | C162S | 1.000 |
| 18:57357096:T:G | C162W | 1.000 |
| 18:57357104:T:A | V165D | 1.000 |
| 18:57357106:G:A | G166R | 1.000 |
| 18:57357106:G:C | G166R | 1.000 |
| 18:57357107:G:A | G166E | 1.000 |
| 18:57357107:G:T | G166V | 1.000 |
| 18:57357111:T:A | N167K | 1.000 |
| 18:57357111:T:G | N167K | 1.000 |
| 18:57357113:G:T | S168I | 1.000 |
| 18:57357115:G:T | G169W | 1.000 |
| 18:57357116:G:A | G169E | 1.000 |
| 18:57357122:T:C | L171P | 1.000 |
| 18:57357180:T:A | N190K | 1.000 |
| 18:57357180:T:G | N190K | 1.000 |
| 18:57357185:C:A | A192D | 1.000 |
| 18:57357215:G:A | G202E | 1.000 |
| 18:57357215:G:T | G202V | 1.000 |
| 18:57357241:A:G | N211D | 1.000 |
| 18:57357243:C:A | N211K | 1.000 |
| 18:57357243:C:G | N211K | 1.000 |
| 18:57357275:T:C | L222P | 1.000 |
| 18:57357293:G:C | R228P | 1.000 |
| 18:57357340:T:A | W244R | 1.000 |
| 18:57357340:T:C | W244R | 1.000 |
| 18:57359999:T:A | W289R | 1.000 |
| 18:57359999:T:C | W289R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017593 (18:57356728 A>G), RS1000180448 (18:57360228 G>A), RS1000232862 (18:57359811 G>A), RS1000242604 (18:57359583 T>A), RS1000553346 (18:57352508 G>A,C), RS1000572476 (18:57353497 C>T), RS1000746688 (18:57367120 G>A), RS1000781741 (18:57358743 G>A), RS1000856600 (18:57364874 A>C,G), RS1001184773 (18:57353602 G>A), RS1001273892 (18:57367189 A>G), RS1001580798 (18:57367475 C>G,T), RS1001779293 (18:57360287 A>G), RS1002022554 (18:57353934 G>A), RS1002221055 (18:57351264 G>A)
Disease associations
OMIM: gene MIM:609478 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007615_45 | C-reactive protein levels | 5.000000e-10 |
| GCST008522_88 | Bitter alcoholic beverage consumption | 6.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| titanium dioxide | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| pyrazolanthrone | increases expression, decreases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | affects expression, increases reaction | 1 |
| Panobinostat | affects expression, increases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | decreases reaction, increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
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.