GAL3ST1
gene geneOn this page
Also known as CST
Summary
GAL3ST1 (galactose-3-O-sulfotransferase 1, HGNC:24240) is a protein-coding gene on chromosome 22q12.2, encoding Galactosylceramide sulfotransferase (Q99999). Catalyzes the transfer of a sulfate group to position 3 of non-reducing beta-galactosyl residues in glycerolipids and sphingolipids, therefore participates in the biosynthesis of sulfoglycolipids.
Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9514 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_001318104
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24240 |
| Approved symbol | GAL3ST1 |
| Name | galactose-3-O-sulfotransferase 1 |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CST |
| Ensembl gene | ENSG00000128242 |
| Ensembl biotype | protein_coding |
| OMIM | 602300 |
| Entrez | 9514 |
Gene structure
Transcript identifiers
Ensembl transcripts: 49 — 49 protein_coding
ENST00000338911, ENST00000401975, ENST00000402321, ENST00000402369, ENST00000406361, ENST00000406955, ENST00000411821, ENST00000416358, ENST00000423299, ENST00000423371, ENST00000426220, ENST00000427899, ENST00000428682, ENST00000431313, ENST00000437282, ENST00000441967, ENST00000443136, ENST00000445645, ENST00000447224, ENST00000448604, ENST00000452827, ENST00000453479, ENST00000903682, ENST00000903683, ENST00000903684, ENST00000903685, ENST00000903686, ENST00000903687, ENST00000903688, ENST00000903689, ENST00000903690, ENST00000903691, ENST00000903692, ENST00000903693, ENST00000903694, ENST00000903695, ENST00000903696, ENST00000903697, ENST00000903698, ENST00000903699, ENST00000911496, ENST00000911497, ENST00000970795, ENST00000970797, ENST00000970799, ENST00000970803, ENST00000970806, ENST00000970808, ENST00000970811
RefSeq mRNA: 15 — MANE Select: NM_001318104
NM_001318103, NM_001318104, NM_001318105, NM_001318106, NM_001318107, NM_001318108, NM_001318109, NM_001318110, NM_001318111, NM_001318112, NM_001318113, NM_001318114, NM_001318115, NM_001318116, NM_004861
CCDS: CCDS13879
Canonical transcript exons
ENST00000406361 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001548286 | 30554635 | 30556093 |
| ENSE00001555918 | 30557262 | 30557401 |
| ENSE00001560477 | 30558279 | 30558388 |
| ENSE00001564626 | 30574466 | 30574665 |
Expression profiles
Bgee: expression breadth ubiquitous, 194 present calls, max score 94.09.
FANTOM5 (CAGE): breadth broad, TPM avg 1.6226 / max 1254.8180, expressed in 281 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193644 | 0.6344 | 39 |
| 193642 | 0.3579 | 77 |
| 193652 | 0.2079 | 99 |
| 193653 | 0.1596 | 95 |
| 193650 | 0.0634 | 40 |
| 193648 | 0.0535 | 11 |
| 193651 | 0.0501 | 26 |
| 193649 | 0.0297 | 19 |
| 193647 | 0.0173 | 5 |
| 193645 | 0.0151 | 1 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.09 | gold quality |
| spinal cord | UBERON:0002240 | 91.58 | gold quality |
| tibial nerve | UBERON:0001323 | 87.81 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.21 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.89 | gold quality |
| putamen | UBERON:0001874 | 82.41 | gold quality |
| duodenum | UBERON:0002114 | 82.24 | gold quality |
| nucleus accumbens | UBERON:0001882 | 82.05 | gold quality |
| amygdala | UBERON:0001876 | 82.04 | gold quality |
| caudate nucleus | UBERON:0001873 | 81.27 | gold quality |
| substantia nigra | UBERON:0002038 | 81.14 | gold quality |
| sural nerve | UBERON:0015488 | 81.08 | gold quality |
| jejunal mucosa | UBERON:0000399 | 80.56 | gold quality |
| Ammon’s horn | UBERON:0001954 | 79.96 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 79.85 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.66 | gold quality |
| midbrain | UBERON:0001891 | 79.58 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.90 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.83 | gold quality |
| hypothalamus | UBERON:0001898 | 78.56 | gold quality |
| cingulate cortex | UBERON:0003027 | 78.46 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.43 | gold quality |
| corpus callosum | UBERON:0002336 | 78.28 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.26 | gold quality |
| inferior olivary complex | UBERON:0002127 | 77.52 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 77.50 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 77.45 | gold quality |
| small intestine | UBERON:0002108 | 77.44 | gold quality |
| right uterine tube | UBERON:0001302 | 77.13 | gold quality |
| body of stomach | UBERON:0001161 | 76.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | yes | 40.49 |
| E-ANND-3 | no | 2.21 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCFL
miRNA regulators (miRDB)
22 targeting GAL3ST1, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-3127-3P | 98.94 | 67.34 | 1055 |
| HSA-MIR-6756-3P | 98.94 | 66.79 | 1104 |
| HSA-MIR-629-5P | 98.78 | 68.72 | 1032 |
| HSA-MIR-193B-5P | 97.91 | 65.88 | 837 |
| HSA-MIR-3936 | 97.64 | 64.47 | 732 |
| HSA-MIR-582-3P | 96.69 | 67.38 | 1019 |
| HSA-MIR-4774-5P | 95.92 | 68.27 | 827 |
| HSA-MIR-6889-5P | 90.26 | 64.13 | 291 |
| HSA-MIR-6777-5P | 88.76 | 62.64 | 222 |
Literature-anchored findings (GeneRIF, showing 3)
- results suggest that heterozygosity at SNP rs2267161 in the gene encoding the CST enzyme confers increased risk of type 2 diabetes; females with the CC allele showed lower insulin resistance (PMID:19587831)
- These results suggest that GAL3ST1 is a HIF-responsive gene that may contribute to clear cell renal cell carcinoma (ccRCC) development via promoting cancer cell evasion of immune surveillance. (PMID:31427440)
- The prognostic value of galactosylceramide-sulfotransferase (Gal3ST1) in human renal cell carcinoma. (PMID:34035403)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gal3st1a | ENSDARG00000062711 |
| danio_rerio | gal3st1b | ENSDARG00000078245 |
| mus_musculus | Gal3st1 | ENSMUSG00000049721 |
| rattus_norvegicus | Gal3st1 | ENSRNOG00000042041 |
Paralogs (3): GAL3ST2 (ENSG00000154252), GAL3ST3 (ENSG00000175229), GAL3ST4 (ENSG00000197093)
Protein
Protein identifiers
Galactosylceramide sulfotransferase — Q99999 (reviewed: Q99999)
Alternative names: 3’-phosphoadenosine-5’-phosphosulfate:GalCer sulfotransferase, 3’-phosphoadenylylsulfate:galactosylceramide 3’-sulfotransferase, Cerebroside sulfotransferase
All UniProt accessions (17): Q99999, C9J2M1, C9J2X7, C9J3S3, C9J4I2, C9J6M2, C9J993, C9JE31, C9JGL4, C9JIS3, C9JKD7, C9JLB5, C9JN55, C9JTV3, C9JU54, C9JYD7, C9K037
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of a sulfate group to position 3 of non-reducing beta-galactosyl residues in glycerolipids and sphingolipids, therefore participates in the biosynthesis of sulfoglycolipids. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro).
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in kidney proximal tubule, gastric mucosa and adenocarcinoma. Highly expressed in renal cell carcinoma cell lines.
Pathway. Lipid metabolism; sphingolipid metabolism.
Similarity. Belongs to the galactose-3-O-sulfotransferase family.
RefSeq proteins (15): NP_001305032, NP_001305033, NP_001305034, NP_001305035, NP_001305036, NP_001305037, NP_001305038, NP_001305039, NP_001305040, NP_001305041, NP_001305042, NP_001305043, NP_001305044, NP_001305045, NP_004852 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009729 | Gal-3-0_sulfotransfrase | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF06990
Enzyme classification (BRENDA):
- EC 2.8.2.11 — galactosylceramide sulfotransferase (BRENDA: 7 organisms, 30 substrates, 20 inhibitors, 10 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENYLYLSULFATE | 0.0009–0.074 | 5 |
| CEREBROSIDE | 0.026–0.0603 | 2 |
| GALACTOCEREBROSIDE | 0.002 | 1 |
| GALACTOSYLCERAMIDE | 0.027 | 1 |
| PSYCHOSINE | 0.103 | 1 |
Catalyzed reactions (Rhea), 5 shown:
- a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine + 3’-phosphoadenylyl sulfate = an N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine + adenosine 3’,5’-bisphosphate + H(+) (RHEA:20613)
- a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + 3’-phosphoadenylyl sulfate = beta-D-3-sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + adenosine 3’,5’-bisphosphate + H(+) (RHEA:41736)
- a 1-O-alkyl-2-acyl-3-O-(beta-D-galactosyl)-sn-glycerol + 3’-phosphoadenylyl sulfate = a 1-O-alkyl-2-acyl-3-(beta-D-3-sulfogalactosyl)-sn-glycerol + adenosine 3’,5’-bisphosphate + H(+) (RHEA:41744)
- a 1,2-diacyl-3-O-(beta-D-galactosyl)-sn-glycerol + 3’-phosphoadenylyl sulfate = 1,2-diacyl-3-(3-O-sulfo-beta-D-galactosyl)-sn-glycerol + adenosine 3’,5’-bisphosphate + H(+) (RHEA:41748)
- a beta-D-Gal-(1<->1’)-ceramide + 3’-phosphoadenylyl sulfate = 1-(3-O-sulfo-beta-D-galactosyl)-ceramide + adenosine 3’,5’-bisphosphate + H(+) (RHEA:43304)
UniProt features (10 total): sequence conflict 3, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99999-F1 | 88.96 | 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.
Glycosylation sites (2): 66, 312
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9840309 | Glycosphingolipid biosynthesis |
MSigDB gene sets: 122 (showing top):
GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ENSHEATHMENT_OF_NEURONS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS
GO Biological Process (10): protein N-linked glycosylation (GO:0006487), sphingolipid metabolic process (GO:0006665), galactosylceramide metabolic process (GO:0006681), galactosylceramide biosynthetic process (GO:0006682), glycosphingolipid biosynthetic process (GO:0006688), spermatogenesis (GO:0007283), myelination (GO:0042552), glycerolipid metabolic process (GO:0046486), lipid metabolic process (GO:0006629), glycolipid biosynthetic process (GO:0009247)
GO Molecular Function (3): galactosylceramide sulfotransferase activity (GO:0001733), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740)
GO Cellular Component (4): Golgi membrane (GO:0000139), plasma membrane (GO:0005886), membrane (GO:0016020), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycosphingolipid metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid metabolic process | 2 |
| glycoprotein biosynthetic process | 1 |
| glycosylceramide metabolic process | 1 |
| galactolipid metabolic process | 1 |
| galactosylceramide metabolic process | 1 |
| glycosphingolipid biosynthetic process | 1 |
| galactolipid biosynthetic process | 1 |
| ceramide biosynthetic process | 1 |
| glycosphingolipid metabolic process | 1 |
| glycolipid biosynthetic process | 1 |
| sphingolipid biosynthetic process | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| axon ensheathment | 1 |
| primary metabolic process | 1 |
| glycolipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| galactose 3-O-sulfotransferase activity | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
416 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GAL3ST1 | UGT8 | Q16880 | 647 |
| GAL3ST1 | ARSA | P15289 | 581 |
| GAL3ST1 | FUT3 | P21217 | 554 |
| GAL3ST1 | OR13C8 | Q8NGS7 | 446 |
| GAL3ST1 | TMEM54 | Q969K7 | 405 |
| GAL3ST1 | GALC | P54803 | 401 |
| GAL3ST1 | B4GALT6 | Q9UBX8 | 395 |
| GAL3ST1 | UGCG | Q16739 | 380 |
| GAL3ST1 | CHST10 | O43529 | 371 |
| GAL3ST1 | CHST12 | Q9NRB3 | 367 |
| GAL3ST1 | DZIP1L | Q8IYY4 | 366 |
| GAL3ST1 | SULT1B1 | O43704 | 348 |
| GAL3ST1 | SPN | P16150 | 343 |
| GAL3ST1 | TMEM92 | Q6UXU6 | 337 |
| GAL3ST1 | PRSS50 | Q9UI38 | 331 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GAL3ST1 | NDUFA3 | psi-mi:“MI:0914”(association) | 0.530 |
| SDCBP | GAL3ST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CHST8 | CLSTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| CHST8 | CALU | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (25): GAL3ST1 (Affinity Capture-MS), NDUFA3 (Affinity Capture-MS), LRIG3 (Affinity Capture-MS), LRIG1 (Affinity Capture-MS), PSG4 (Affinity Capture-MS), PIGU (Affinity Capture-MS), GAL3ST1 (Affinity Capture-MS), PSG4 (Affinity Capture-MS), PIGW (Affinity Capture-MS), NDUFA3 (Affinity Capture-MS), LRIG3 (Affinity Capture-MS), LRIG1 (Affinity Capture-MS), CANX (Affinity Capture-MS), GAL3ST1 (Affinity Capture-MS), GAL3ST1 (Affinity Capture-MS)
ESM2 similar proteins: A6QNK1, O14792, O19058, O35310, O43916, O88199, Q10979, Q11127, Q29043, Q5E9W5, Q5RJQ0, Q5XPT3, Q6P7A1, Q6XQG8, Q6XQG9, Q6XQH0, Q712G6, Q7LGC8, Q7T3S3, Q800H9, Q80WV3, Q866C5, Q866C7, Q866D2, Q866D6, Q866D9, Q866E1, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q8HYJ3, Q8HYJ4, Q8HYJ7, Q8N3Y3, Q8NET6, Q92179, Q96RP7, Q99999
Diamond homologs: A6QNK1, P61315, Q0VCH4, Q5E9W5, Q6XQG9, Q6XQH0, Q96A11, Q96RP7, Q99999, Q9H3Q3, Q9JHE4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
318 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:30557260:A:AC | donor_gain | 1.0000 |
| 22:30557261:C:CC | donor_gain | 1.0000 |
| 22:30557397:GACAC:G | acceptor_gain | 1.0000 |
| 22:30557398:ACAC:A | acceptor_gain | 1.0000 |
| 22:30557399:CAC:C | acceptor_gain | 1.0000 |
| 22:30557399:CACC:C | acceptor_gain | 1.0000 |
| 22:30557400:AC:A | acceptor_gain | 1.0000 |
| 22:30557400:ACCT:A | acceptor_loss | 1.0000 |
| 22:30557401:CC:C | acceptor_gain | 1.0000 |
| 22:30557401:CCTG:C | acceptor_loss | 1.0000 |
| 22:30557402:C:CC | acceptor_gain | 1.0000 |
| 22:30557402:CTG:C | acceptor_loss | 1.0000 |
| 22:30557412:A:T | acceptor_gain | 1.0000 |
| 22:30556094:CTG:C | acceptor_gain | 0.9900 |
| 22:30556097:C:CC | acceptor_gain | 0.9900 |
| 22:30557256:ACTCA:A | donor_loss | 0.9900 |
| 22:30557259:CACG:C | donor_loss | 0.9900 |
| 22:30557260:A:AG | donor_loss | 0.9900 |
| 22:30557261:C:A | donor_loss | 0.9900 |
| 22:30557261:CG:C | donor_gain | 0.9900 |
| 22:30557261:CGTGG:C | donor_gain | 0.9900 |
| 22:30557405:C:CT | acceptor_gain | 0.9900 |
| 22:30557411:C:CT | acceptor_gain | 0.9900 |
| 22:30556092:TCCTG:T | acceptor_gain | 0.9800 |
| 22:30556093:CCTGC:C | acceptor_gain | 0.9800 |
| 22:30557261:CGT:C | donor_gain | 0.9800 |
| 22:30557261:CGTG:C | donor_gain | 0.9800 |
| 22:30557414:C:CT | acceptor_gain | 0.9800 |
| 22:30556104:C:CT | acceptor_gain | 0.9700 |
| 22:30557402:C:T | acceptor_gain | 0.9600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000105900 (22:30571642 T>C), RS1000224422 (22:30554523 A>T), RS1000478022 (22:30559535 G>A), RS1000784610 (22:30565094 C>A,G,T), RS1000817145 (22:30563551 G>A), RS1000828838 (22:30564063 T>C), RS1000832119 (22:30564779 T>C), RS1001079010 (22:30558849 A>G), RS1001223818 (22:30570650 G>A), RS1001315896 (22:30571935 C>A), RS1001380550 (22:30565823 G>A), RS1001463047 (22:30559417 T>A), RS1001691102 (22:30560544 C>T), RS1001712575 (22:30560788 G>T), RS1001852458 (22:30559854 T>C)
Disease associations
OMIM: gene MIM:602300 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_155 | Brain morphology (MOSTest) | 3.000000e-09 |
| GCST012231_18 | A body shape index | 3.000000e-08 |
| GCST90001389_3 | Creutzfeldt-Jakob disease (sporadic) | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:1000656 | sporadic Creutzfeld Jacob disease |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| perfluorotetradecanoic acid | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| methyl salicylate | affects expression | 1 |
| perfluorobutyric acid | increases expression | 1 |
| abrine | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Gemcitabine | decreases expression | 1 |
| Acrolein | affects expression | 1 |
| Amphotericin B | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Chloroquine | affects reaction, increases lipidation | 1 |
| Cisplatin | decreases expression | 1 |
| Dinitrochlorobenzene | affects expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Oxygen | increases expression | 1 |
| Quercetin | increases expression | 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.