SULT1C4
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Also known as SULT1C
Summary
SULT1C4 (sulfotransferase family 1C member 4, HGNC:11457) is a protein-coding gene on chromosome 2q12.3, encoding Sulfotransferase 1C4 (O75897). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic compounds.
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds.
Source: NCBI Gene 27233 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 42 total
- Druggable target: yes
- MANE Select transcript:
NM_006588
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11457 |
| Approved symbol | SULT1C4 |
| Name | sulfotransferase family 1C member 4 |
| Location | 2q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SULT1C |
| Ensembl gene | ENSG00000198075 |
| Ensembl biotype | protein_coding |
| OMIM | 608357 |
| Entrez | 27233 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron
ENST00000272452, ENST00000409309, ENST00000494122, ENST00000957540
RefSeq mRNA: 2 — MANE Select: NM_006588
NM_001321770, NM_006588
CCDS: CCDS2077, CCDS82492
Canonical transcript exons
ENST00000272452 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000963464 | 108381762 | 108381887 |
| ENSE00000963465 | 108382385 | 108382482 |
| ENSE00000963466 | 108383093 | 108383219 |
| ENSE00000963468 | 108386192 | 108386372 |
| ENSE00001318272 | 108387320 | 108388989 |
| ENSE00001378859 | 108383416 | 108383510 |
| ENSE00001939798 | 108377954 | 108378506 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 92.20.
FANTOM5 (CAGE): breadth broad, TPM avg 2.3818 / max 246.7018, expressed in 331 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21855 | 2.3818 | 331 |
| 21862 | 1.5831 | 450 |
| 21864 | 0.6898 | 300 |
| 21865 | 0.2126 | 117 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 92.20 | gold quality |
| gall bladder | UBERON:0002110 | 91.71 | gold quality |
| left ovary | UBERON:0002119 | 89.08 | gold quality |
| right lung | UBERON:0002167 | 87.33 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.23 | gold quality |
| right ovary | UBERON:0002118 | 84.43 | gold quality |
| right uterine tube | UBERON:0001302 | 84.01 | gold quality |
| hypothalamus | UBERON:0001898 | 83.64 | gold quality |
| endocervix | UBERON:0000458 | 83.23 | gold quality |
| caudate nucleus | UBERON:0001873 | 82.82 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.50 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.21 | gold quality |
| nucleus accumbens | UBERON:0001882 | 82.19 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.09 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.91 | gold quality |
| ovary | UBERON:0000992 | 81.13 | gold quality |
| cardiac atrium | UBERON:0002081 | 81.03 | gold quality |
| amygdala | UBERON:0001876 | 80.70 | gold quality |
| putamen | UBERON:0001874 | 80.47 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 80.10 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.61 | gold quality |
| upper lobe of lung | UBERON:0008948 | 79.47 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.88 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.53 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 78.04 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.03 | gold quality |
| adenohypophysis | UBERON:0002196 | 77.99 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 77.77 | gold quality |
| omental fat pad | UBERON:0010414 | 77.58 | gold quality |
| peritoneum | UBERON:0002358 | 77.48 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1H2, NR1H3, NR1H4
miRNA regulators (miRDB)
83 targeting SULT1C4, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
Literature-anchored findings (GeneRIF, showing 5)
- A systematic analysis showed that three of the twelve human SULTs, SULT1A1, SULT1A3 and SULT1C4, displayed the strongest sulphating activity towards acetaminophen. (PMID:26067475)
- The current study aimed to identify the human cytosolic sulfotransferase(s) that is(are) capable of sulfating doxorubicin and its analog epirubicin, and to verify whether sulfation of doxorubicin and epirubicin may occur under metabolic conditions. (PMID:26948952)
- Developmental Expression of SULT1C4 Transcript Variants in Human Liver: Implications for Discordance Between SULT1C4 mRNA and Protein Levels. (PMID:32303576)
- Sulfation of hyperoside by the human cytosolic sulfotransferases (SULTs): impact of genetic polymorphisms on hyperoside-sulfating activity of SULT1C4 allozymes. (PMID:35249434)
- Sulfotransferase 1C2 promotes hepatocellular carcinoma progression by enhancing glycolysis and fatty acid metabolism. (PMID:36880364)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sult1st5 | ENSDARG00000003475 |
| danio_rerio | sult1st6 | ENSDARG00000006811 |
| drosophila_melanogaster | St4 | FBGN0033887 |
| drosophila_melanogaster | St1 | FBGN0034887 |
| drosophila_melanogaster | St3 | FBGN0265052 |
Paralogs (12): SULT2B1 (ENSG00000088002), SULT2A1 (ENSG00000105398), SULT1E1 (ENSG00000109193), SULT4A1 (ENSG00000130540), SULT6B1 (ENSG00000138068), SULT1B1 (ENSG00000173597), SULT1C3 (ENSG00000196228), SULT1A1 (ENSG00000196502), SULT1A2 (ENSG00000197165), SULT1C2 (ENSG00000198203), SULT1A4 (ENSG00000213648), SULT1A3 (ENSG00000261052)
Protein
Protein identifiers
Sulfotransferase 1C4 — O75897 (reviewed: O75897)
Alternative names: Sulfotransferase 1C2
All UniProt accessions (1): O75897
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic compounds. Can also sulfonate estrogenic compounds, however, the dietary flavonoids (phytoestrogen) and environmental estrogens, like bisphenol A are better substrates than 17beta-estradiol (E2). Mediates the sulfation of doxorubicin and its analog epirubicin, two antitumor anthracyclines.
Subcellular location. Cytoplasm. Cytosol.
Tissue specificity. Expressed at high levels in fetal lung and kidney and at low levels in fetal heart, adult kidney, ovary and spinal cord.
Similarity. Belongs to the sulfotransferase 1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75897-1 | 1 | yes |
| O75897-2 | 2 |
RefSeq proteins (2): NP_001308699, NP_006579* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00685
Enzyme classification (BRENDA):
- EC 2.8.2.1 — aryl sulfotransferase (BRENDA: 19 organisms, 630 substrates, 215 inhibitors, 314 Km, 55 kcat entries)
Substrate kinetics (BRENDA)
81 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| DOPAMINE | 0.0006–11.3 | 39 |
| 4-NITROPHENOL | 0.0001–30.9 | 36 |
| 3’-PHOSPHOADENYLYLSULFATE | 0.0003–0.51 | 17 |
| ACETAMINOPHEN | 0.43–4.5 | 14 |
| MORPHINE | 3.8–10 | 13 |
| O-DESMETHYL TRAMADOL | 0.27–0.8 | 13 |
| TAPENTADOL | 0.09–0.84 | 13 |
| 3’-PHOSPHOADENYLYL SULFATE | 0.0008–0.024 | 12 |
| DAIDZEIN | 0.0005–0.407 | 8 |
| GENISTEIN | 0.0005–0.371 | 8 |
| 6-HYDROXYMELATONIN | 0.018–0.065 | 6 |
| 7-HYDROXYCOUMARIN | 0.0005–0.003 | 4 |
| ROTIGOTINE | 0.0291–0.1191 | 4 |
| 2-AMINOPHENOL | 0.009–0.223 | 3 |
| 3,3’,5-TRIIODO-L-THYRONINE | 0.0387–0.126 | 3 |
Catalyzed reactions (Rhea), 3 shown:
- a phenol + 3’-phosphoadenylyl sulfate = an aryl sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:12164)
- 17beta-estradiol + 3’-phosphoadenylyl sulfate = 17beta-estradiol 3-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:52372)
- bisphenol A + 3’-phosphoadenylyl sulfate = bisphenyl A sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:66580)
UniProt features (40 total): helix 18, binding site 7, strand 6, turn 4, sequence variant 2, chain 1, active site 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2GWH | X-RAY DIFFRACTION | 1.8 |
| 2AD1 | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75897-F1 | 94.85 | 0.94 |
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): 115 (proton acceptor)
Ligand- & substrate-binding residues (7): 55–60; 113–115; 137; 145; 200; 234–239; 262–266
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-156584 | Cytosolic sulfonation of small molecules |
| R-HSA-9753281 | Paracetamol ADME |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-211859 | Biological oxidations |
| R-HSA-9748784 | Drug ADME |
MSigDB gene sets: 158 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, chr2q12, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SULFATION, GOBP_KETONE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, CADWELL_ATG16L1_TARGETS_DN, MODULE_99, LIAO_METASTASIS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, BASAKI_YBX1_TARGETS_DN
GO Biological Process (6): ethanol catabolic process (GO:0006068), xenobiotic metabolic process (GO:0006805), flavonoid metabolic process (GO:0009812), doxorubicin metabolic process (GO:0044598), 3’-phosphoadenosine 5’-phosphosulfate metabolic process (GO:0050427), sulfation (GO:0051923)
GO Molecular Function (3): aryl sulfotransferase activity (GO:0004062), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Drug ADME | 1 |
| Biological oxidations | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 2 |
| sulfur compound metabolic process | 2 |
| cellular anatomical structure | 2 |
| ethanol metabolic process | 1 |
| primary alcohol catabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| glycoside metabolic process | 1 |
| polyketide metabolic process | 1 |
| primary alcohol metabolic process | 1 |
| ketone metabolic process | 1 |
| tertiary alcohol metabolic process | 1 |
| purine ribonucleotide metabolic process | 1 |
| purine ribonucleoside bisphosphate metabolic process | 1 |
| oxoacid metabolic process | 1 |
| sulfotransferase activity | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
766 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SULT1C4 | CHST6 | Q9GZX3 | 899 |
| SULT1C4 | NDST1 | P52848 | 895 |
| SULT1C4 | HS3ST1 | O14792 | 846 |
| SULT1C4 | PAPSS2 | O95340 | 842 |
| SULT1C4 | HS3ST3A1 | Q9Y663 | 838 |
| SULT1C4 | PAPSS1 | O43252 | 829 |
| SULT1C4 | HS3ST3B1 | Q9Y662 | 827 |
| SULT1C4 | NDST2 | P52849 | 815 |
| SULT1C4 | CHST3 | Q7LGC8 | 762 |
| SULT1C4 | NDST3 | O95803 | 756 |
| SULT1C4 | HS3ST2 | Q9Y278 | 755 |
| SULT1C4 | CHST5 | Q9GZS9 | 733 |
| SULT1C4 | LUM | P51884 | 729 |
| SULT1C4 | CHST1 | O43916 | 729 |
| SULT1C4 | HS3ST4 | Q9Y661 | 717 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SULT1C2 | SULT1C4 | psi-mi:“MI:0914”(association) | 0.530 |
| SULT1C4 | HSPA1B | psi-mi:“MI:0915”(physical association) | 0.400 |
| SULT1C2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SULT1C4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (112): SULT1C4 (Affinity Capture-MS), COPE (Co-fractionation), SULT1C4 (Co-fractionation), SULT1C4 (Co-fractionation), SULT1C4 (Affinity Capture-MS), SULT1C4 (Proximity Label-MS), SULT1C4 (Affinity Capture-MS), PHLDB3 (Affinity Capture-MS), HAX1 (Affinity Capture-MS), SAV1 (Affinity Capture-MS), NPHP4 (Affinity Capture-MS), LSS (Affinity Capture-MS), CNOT7 (Affinity Capture-MS), TBC1D2B (Affinity Capture-MS), GPAT2 (Affinity Capture-MS)
ESM2 similar proteins: A0A173GP47, A0A1L8HV70, A0A2K5X3B6, B2RVI8, F1QYJ6, G3V9R3, O00338, O43704, O46503, O75897, P0CC03, P15709, P17988, P19217, P22789, P27707, P46560, P48769, P49887, P49888, P49891, P50234, P50235, P50236, P50237, P52840, P52841, P52843, P52844, P52847, Q06520, Q3T0Y3, Q3UZZ6, Q5ZJM7, Q6IMI4, Q6IMI6, Q6PH37, Q6WG17, Q6WG18, Q7T2V2
Diamond homologs: A0A173GP47, A0A2K5X3B6, G3V9R3, O00338, O35400, O43704, O46503, O46640, O75897, P0DMM9, P0DMN0, P19217, P49887, P49888, P49891, P50236, P50237, P52839, P52840, P52842, P52844, P52847, P63046, P63047, Q29476, Q3T0Y3, Q3UZZ6, Q6IMI6, Q80VR3, Q8BGL3, Q8JG30, Q95JD5, Q9BR01, Q9C9D0, Q9D939, Q9FZ80, Q9QWG7, Q9WUW8, Q9WUW9, B2RVI8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
771 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:108378503:GCAG:G | donor_gain | 1.0000 |
| 2:108378506:GGTA:G | donor_loss | 1.0000 |
| 2:108378507:GTAG:G | donor_loss | 1.0000 |
| 2:108378508:T:A | donor_loss | 1.0000 |
| 2:108386177:T:TA | acceptor_gain | 1.0000 |
| 2:108386368:AAAAG:A | donor_loss | 1.0000 |
| 2:108386369:AAAGG:A | donor_loss | 1.0000 |
| 2:108386370:AAG:A | donor_loss | 1.0000 |
| 2:108386371:AG:A | donor_loss | 1.0000 |
| 2:108386372:GGTTT:G | donor_loss | 1.0000 |
| 2:108386373:G:A | donor_loss | 1.0000 |
| 2:108386374:T:A | donor_loss | 1.0000 |
| 2:108381749:ACGT:A | acceptor_gain | 0.9900 |
| 2:108383414:A:AG | acceptor_gain | 0.9900 |
| 2:108383415:G:GG | acceptor_gain | 0.9900 |
| 2:108383415:GT:G | acceptor_gain | 0.9900 |
| 2:108386183:T:TA | acceptor_gain | 0.9900 |
| 2:108386188:ATAG:A | acceptor_loss | 0.9900 |
| 2:108386189:T:G | acceptor_gain | 0.9900 |
| 2:108386189:TAG:T | acceptor_loss | 0.9900 |
| 2:108386190:A:AG | acceptor_gain | 0.9900 |
| 2:108386191:G:GG | acceptor_gain | 0.9900 |
| 2:108386191:GA:G | acceptor_gain | 0.9900 |
| 2:108386191:GAA:G | acceptor_gain | 0.9900 |
| 2:108386191:GAACC:G | acceptor_gain | 0.9900 |
| 2:108387437:G:GT | donor_gain | 0.9900 |
| 2:108378506:GGT:G | donor_gain | 0.9800 |
| 2:108378507:G:GG | donor_gain | 0.9800 |
| 2:108381749:A:AG | acceptor_gain | 0.9800 |
| 2:108381750:C:CA | acceptor_gain | 0.9800 |
AlphaMissense
2032 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:108378501:A:T | K55I | 0.993 |
| 2:108383144:T:C | F149L | 0.993 |
| 2:108383146:C:A | F149L | 0.993 |
| 2:108383146:C:G | F149L | 0.993 |
| 2:108386360:T:C | F262L | 0.993 |
| 2:108386362:C:A | F262L | 0.993 |
| 2:108386362:C:G | F262L | 0.993 |
| 2:108378502:A:C | K55N | 0.989 |
| 2:108378502:A:T | K55N | 0.989 |
| 2:108382432:C:G | H115D | 0.988 |
| 2:108383119:G:C | K140N | 0.988 |
| 2:108383119:G:T | K140N | 0.988 |
| 2:108382434:T:A | H115Q | 0.984 |
| 2:108382434:T:G | H115Q | 0.984 |
| 2:108383430:T:A | W179R | 0.984 |
| 2:108383430:T:C | W179R | 0.984 |
| 2:108381854:T:C | F88L | 0.983 |
| 2:108381856:C:A | F88L | 0.983 |
| 2:108381856:C:G | F88L | 0.983 |
| 2:108383451:T:A | W186R | 0.983 |
| 2:108383451:T:C | W186R | 0.983 |
| 2:108386225:T:C | F217L | 0.982 |
| 2:108386227:T:A | F217L | 0.982 |
| 2:108386227:T:G | F217L | 0.982 |
| 2:108383120:G:C | D141H | 0.981 |
| 2:108382428:A:C | K113N | 0.980 |
| 2:108382428:A:T | K113N | 0.980 |
| 2:108386368:A:C | R264S | 0.980 |
| 2:108386368:A:T | R264S | 0.980 |
| 2:108378477:A:C | D47A | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000122491 (2:108380356 A>T), RS1000655660 (2:108383426 C>G,T), RS1000853236 (2:108388035 C>A), RS1000995349 (2:108388207 G>A,C), RS1001070677 (2:108388456 T>C), RS1001542800 (2:108377273 C>T), RS1001816672 (2:108383960 C>A,G), RS1002124007 (2:108382792 A>G), RS1002279879 (2:108388851 A>G), RS1002311031 (2:108389221 T>C), RS1002419372 (2:108382159 G>A), RS1003011835 (2:108385302 C>A), RS1003041324 (2:108385644 T>A,C), RS1003103894 (2:108384666 T>C), RS1003218124 (2:108378981 C>A)
Disease associations
OMIM: gene MIM:608357 | disease phenotypes: MIM:608033
GenCC curated gene-disease
Mondo (1): familial acute necrotizing encephalopathy (MONDO:0011953)
Orphanet (1): Familial acute necrotizing encephalopathy (Orphanet:88619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003476_3 | Eyebrow thickness | 1.000000e-07 |
| GCST010736_2 | Urinary albumin-to-creatinine ratio | 1.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007778 | urinary albumin to creatinine ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743296 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs1402467 | Efficacy | 3 | docetaxel;thalidomide | Prostatic Neoplasms |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1402467 | SULT1C4 | 3 | 2.00 | 1 | docetaxel;thalidomide |
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, increases expression, increases methylation | 4 |
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| Valproic Acid | decreases expression, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Biological Factors | increases expression | 1 |
| Permethrin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1743308 | ADMET | Major substrate of human cytosolic sulfotransferase SULT1C4 | Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): familial acute necrotizing encephalopathy