SULT1B1
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Also known as ST1B2
Summary
SULT1B1 (sulfotransferase family 1B member 1, HGNC:17845) is a protein-coding gene on chromosome 4q13.3, encoding Sulfotransferase 1B1 (O43704). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3’-diiodothyronine, triidothyronine (T3) and reverse trii….
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. However, the total genomic length of this gene is greater than that of other SULT1 genes.
Source: NCBI Gene 27284 — RefSeq curated summary.
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 44 total
- Druggable target: yes
- MANE Select transcript:
NM_014465
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17845 |
| Approved symbol | SULT1B1 |
| Name | sulfotransferase family 1B member 1 |
| Location | 4q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ST1B2 |
| Ensembl gene | ENSG00000173597 |
| Ensembl biotype | protein_coding |
| OMIM | 608436 |
| Entrez | 27284 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000310613, ENST00000510821, ENST00000512870, ENST00000868536, ENST00000868537, ENST00000868538, ENST00000868539
RefSeq mRNA: 1 — MANE Select: NM_014465
NM_014465
CCDS: CCDS3530
Canonical transcript exons
ENST00000310613 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001180373 | 69730501 | 69730681 |
| ENSE00001180380 | 69733413 | 69733507 |
| ENSE00001180385 | 69734138 | 69734264 |
| ENSE00001180389 | 69749721 | 69749818 |
| ENSE00001180398 | 69760459 | 69760620 |
| ENSE00001180407 | 69755070 | 69755261 |
| ENSE00001239171 | 69721167 | 69727200 |
| ENSE00003788576 | 69754670 | 69754798 |
Expression profiles
Bgee: expression breadth ubiquitous, 161 present calls, max score 95.96.
FANTOM5 (CAGE): breadth broad, TPM avg 4.8913 / max 566.6373, expressed in 486 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52374 | 1.8282 | 270 |
| 52377 | 1.1863 | 266 |
| 52383 | 0.5238 | 96 |
| 52382 | 0.2984 | 76 |
| 52375 | 0.2914 | 107 |
| 52379 | 0.2575 | 71 |
| 52378 | 0.1535 | 64 |
| 52376 | 0.1490 | 64 |
| 52380 | 0.0911 | 25 |
| 52373 | 0.0537 | 27 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 95.96 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.61 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.56 | gold quality |
| duodenum | UBERON:0002114 | 91.73 | gold quality |
| monocyte | CL:0000576 | 86.87 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.77 | gold quality |
| mononuclear cell | CL:0000842 | 86.61 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.57 | gold quality |
| leukocyte | CL:0000738 | 86.37 | gold quality |
| transverse colon | UBERON:0001157 | 84.33 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 83.98 | gold quality |
| blood | UBERON:0000178 | 81.78 | gold quality |
| ileal mucosa | UBERON:0000331 | 80.37 | gold quality |
| small intestine | UBERON:0002108 | 80.22 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 78.88 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.75 | gold quality |
| right lung | UBERON:0002167 | 77.94 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.73 | silver quality |
| vermiform appendix | UBERON:0001154 | 77.04 | gold quality |
| intestine | UBERON:0000160 | 76.77 | gold quality |
| liver | UBERON:0002107 | 76.55 | gold quality |
| diaphragm | UBERON:0001103 | 76.22 | gold quality |
| stomach | UBERON:0000945 | 75.51 | gold quality |
| large intestine | UBERON:0000059 | 75.19 | gold quality |
| body of stomach | UBERON:0001161 | 75.19 | gold quality |
| granulocyte | CL:0000094 | 75.03 | gold quality |
| caecum | UBERON:0001153 | 74.94 | gold quality |
| spleen | UBERON:0002106 | 74.90 | gold quality |
| colon | UBERON:0001155 | 74.53 | gold quality |
| jejunum | UBERON:0002115 | 72.74 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 971.87 |
| E-ANND-3 | yes | 7.50 |
| E-ENAD-20 | no | 85.93 |
| E-MTAB-9067 | no | 4.30 |
| E-GEOD-83139 | no | 3.90 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RORA
miRNA regulators (miRDB)
11 targeting SULT1B1, 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-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
Literature-anchored findings (GeneRIF, showing 4)
- linkage to SULT1E1 and a SULT1D1 pseudogene on chromosome 4 (PMID:11688987)
- crystal structures of two members of SULT1 family, SULT1B1 and SULT1C1, both in complex with the product of the PAPS cofactor, adenosine-3-5-diphosphate (PAP). (PMID:16804942)
- the intersubunit interactions of SULT1B1 as it relates to enzyme activity (PMID:27338799)
- (L145V) selectively expressed in African descendants exhibits altered kinetic properties (PMID:28084139)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sult2st3 | ENSDARG00000028367 |
| mus_musculus | Sult1b1 | ENSMUSG00000029269 |
| rattus_norvegicus | Sult1b1 | ENSRNOG00000001967 |
| drosophila_melanogaster | St4 | FBGN0033887 |
| drosophila_melanogaster | St1 | FBGN0034887 |
| drosophila_melanogaster | St3 | FBGN0265052 |
Paralogs (12): SULT2B1 (ENSG00000088002), SULT2A1 (ENSG00000105398), SULT1E1 (ENSG00000109193), SULT4A1 (ENSG00000130540), SULT6B1 (ENSG00000138068), SULT1C3 (ENSG00000196228), SULT1A1 (ENSG00000196502), SULT1A2 (ENSG00000197165), SULT1C4 (ENSG00000198075), SULT1C2 (ENSG00000198203), SULT1A4 (ENSG00000213648), SULT1A3 (ENSG00000261052)
Protein
Protein identifiers
Sulfotransferase 1B1 — O43704 (reviewed: O43704)
Alternative names: Sulfotransferase 1B2, Sulfotransferase family cytosolic 1B member 1, Thyroid hormone sulfotransferase
All UniProt accessions (3): O43704, D6RD70, D6RIA8
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 dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3’-diiodothyronine, triidothyronine (T3) and reverse triiodothyronine (rT3). May play a role in gut microbiota-host metabolic interaction. O-sulfonates 4-ethylphenol (4-EP), a dietary tyrosine-derived metabolite produced by gut bacteria. The product 4-EPS crosses the blood-brain barrier and may negatively regulate oligodendrocyte maturation and myelination, affecting the functional connectivity of different brain regions associated with the limbic system.
Subcellular location. Cytoplasm.
Tissue specificity. Highly expressed in the liver, peripheral blood leukocytes, colon (mucosal lining), small intestine (jejunum) and spleen. A lesser expression was observed in the lung, placenta and thymus.
Similarity. Belongs to the sulfotransferase 1 family.
RefSeq proteins (1): NP_055280* (*=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)
- EC 2.8.2.2 — alcohol sulfotransferase (BRENDA: 13 organisms, 295 substrates, 100 inhibitors, 159 Km, 25 kcat entries)
Substrate kinetics (BRENDA)
180 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 |
| DEHYDROEPIANDROSTERONE | 0.0006–0.0179 | 23 |
| 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 |
| ANDROSTERONE | 0.0002–0.0096 | 11 |
| DAIDZEIN | 0.0005–0.407 | 8 |
| GENISTEIN | 0.0005–0.371 | 8 |
| 6-HYDROXYMELATONIN | 0.018–0.065 | 6 |
| 3’-PHOSPHOADENYLYLSULFATE | 0.0001–0.1 | 6 |
| 7-HYDROXYCOUMARIN | 0.0005–0.003 | 4 |
Catalyzed reactions (Rhea), 7 shown:
- a phenol + 3’-phosphoadenylyl sulfate = an aryl sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:12164)
- 3,3’,5-triiodo-L-thyronine + 3’-phosphoadenylyl sulfate = 3,3’,5-triiodo-L-thyronine sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67876)
- dopamine + 3’-phosphoadenylyl sulfate = dopamine 3-O-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67880)
- dopamine + 3’-phosphoadenylyl sulfate = dopamine 4-O-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67884)
- 3,3’,5’-triiodo-L-thyronine + 3’-phosphoadenylyl sulfate = 3,3’,5’-triiodo-L-thyronine sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67888)
- 3,3’-diiodo-L-thyronine + 3’-phosphoadenylyl sulfate = 3,3’-diiodo-L-thyronine sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67892)
- 4-ethylphenol + 3’-phosphoadenylyl sulfate = 4-ethylphenyl sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:70607)
UniProt features (42 total): helix 16, turn 8, binding site 7, strand 6, sequence conflict 2, chain 1, active site 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3CKL | X-RAY DIFFRACTION | 2 |
| 2Z5F | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43704-F1 | 97.88 | 0.97 |
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): 109 (proton acceptor)
Ligand- & substrate-binding residues (7): 48–53; 107–109; 131; 139; 194; 228–233; 258–260
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-156584 | Cytosolic sulfonation of small molecules |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-211859 | Biological oxidations |
MSigDB gene sets: 141 (showing top):
GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, HORIUCHI_WTAP_TARGETS_DN, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SULFATION, LEE_LIVER_CANCER_CIPROFIBRATE_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, chr4q13, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, CAIRO_HEPATOBLASTOMA_CLASSES_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_ORGANIC_ACID_METABOLIC_PROCESS
GO Biological Process (9): ethanol catabolic process (GO:0006068), biogenic amine metabolic process (GO:0006576), xenobiotic metabolic process (GO:0006805), flavonoid metabolic process (GO:0009812), phenol-containing compound metabolic process (GO:0018958), epithelial cell differentiation (GO:0030855), thyroid hormone metabolic process (GO:0042403), 3’-phosphoadenosine 5’-phosphosulfate metabolic process (GO:0050427), sulfation (GO:0051923)
GO Molecular Function (4): aryl sulfotransferase activity (GO:0004062), sulfotransferase activity (GO:0008146), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Biological oxidations | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 3 |
| sulfur compound metabolic process | 2 |
| cellular anatomical structure | 2 |
| ethanol metabolic process | 1 |
| primary alcohol catabolic process | 1 |
| amine metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| modified amino acid metabolic process | 1 |
| phenol-containing compound metabolic process | 1 |
| hormone 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 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
940 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SULT1B1 | CHST6 | Q9GZX3 | 899 |
| SULT1B1 | NDST1 | P52848 | 893 |
| SULT1B1 | PAPSS2 | O95340 | 851 |
| SULT1B1 | HS3ST1 | O14792 | 845 |
| SULT1B1 | PAPSS1 | O43252 | 837 |
| SULT1B1 | HS3ST3A1 | Q9Y663 | 834 |
| SULT1B1 | HS3ST3B1 | Q9Y662 | 825 |
| SULT1B1 | NDST2 | P52849 | 815 |
| SULT1B1 | CHST5 | Q9GZS9 | 749 |
| SULT1B1 | CHST3 | Q7LGC8 | 748 |
| SULT1B1 | HS3ST2 | Q9Y278 | 731 |
| SULT1B1 | NDST3 | O95803 | 729 |
| SULT1B1 | LUM | P51884 | 725 |
| SULT1B1 | CHST1 | O43916 | 722 |
| SULT1B1 | SLC35A2 | P78381 | 697 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SULT2B1 | SULT1B1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| SULT1B1 | SULT2B1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| SULT1B1 | SULT2A1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SULT1B1 | SDCBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARS1 | SULT1B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT1B1 | UQCRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VBP1 | SULT1B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT1B1 | POT1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| INSR | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | ATOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1B1 | POT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SULT2A1 | SULT1B1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): SULT1B1 (Two-hybrid), SULT1B1 (Two-hybrid), SULT1B1 (Two-hybrid), SULT1B1 (Two-hybrid), SULT1B1 (Synthetic Lethality), SULT1B1 (Two-hybrid), SULT1B1 (Two-hybrid), SULT1B1 (Negative Genetic), SULT1B1 (Negative Genetic), SULT1B1 (Two-hybrid)
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
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1446 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:69730496:TTTAC:T | donor_loss | 1.0000 |
| 4:69730497:TTAC:T | donor_loss | 1.0000 |
| 4:69730498:TA:T | donor_loss | 1.0000 |
| 4:69730499:ACC:A | donor_loss | 1.0000 |
| 4:69730500:C:CT | donor_loss | 1.0000 |
| 4:69730500:CCT:C | donor_gain | 1.0000 |
| 4:69730679:ATT:A | acceptor_gain | 1.0000 |
| 4:69730680:TT:T | acceptor_gain | 1.0000 |
| 4:69730681:TC:T | acceptor_loss | 1.0000 |
| 4:69730682:C:CC | acceptor_gain | 1.0000 |
| 4:69730685:T:TC | acceptor_gain | 1.0000 |
| 4:69730692:G:GC | acceptor_gain | 1.0000 |
| 4:69730700:C:T | acceptor_gain | 1.0000 |
| 4:69734133:CATA:C | donor_loss | 1.0000 |
| 4:69734134:ATACC:A | donor_loss | 1.0000 |
| 4:69734135:TACCT:T | donor_loss | 1.0000 |
| 4:69734136:ACCT:A | donor_loss | 1.0000 |
| 4:69734137:C:G | donor_loss | 1.0000 |
| 4:69734261:TCAT:T | acceptor_gain | 1.0000 |
| 4:69734262:CAT:C | acceptor_gain | 1.0000 |
| 4:69734262:CATC:C | acceptor_gain | 1.0000 |
| 4:69727044:C:CT | donor_gain | 0.9900 |
| 4:69727045:T:TT | donor_gain | 0.9900 |
| 4:69727051:CAAT:C | donor_gain | 0.9900 |
| 4:69727060:A:AC | donor_gain | 0.9900 |
| 4:69730677:GGATT:G | acceptor_gain | 0.9900 |
| 4:69730678:GATT:G | acceptor_gain | 0.9900 |
| 4:69730688:G:GC | acceptor_gain | 0.9900 |
| 4:69730692:G:C | acceptor_gain | 0.9900 |
| 4:69730700:C:CT | acceptor_gain | 0.9900 |
AlphaMissense
1987 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:69755075:T:A | K48I | 0.993 |
| 4:69730507:G:T | R258S | 0.992 |
| 4:69730511:A:C | F256L | 0.992 |
| 4:69730511:A:T | F256L | 0.992 |
| 4:69730513:A:G | F256L | 0.992 |
| 4:69755074:T:A | K48N | 0.991 |
| 4:69755074:T:G | K48N | 0.991 |
| 4:69734211:A:C | F143L | 0.990 |
| 4:69734211:A:T | F143L | 0.990 |
| 4:69734213:A:G | F143L | 0.990 |
| 4:69734238:C:A | K134N | 0.989 |
| 4:69734238:C:G | K134N | 0.989 |
| 4:69730506:C:G | R258P | 0.988 |
| 4:69754798:C:A | G50V | 0.988 |
| 4:69733493:A:G | W173R | 0.987 |
| 4:69733493:A:T | W173R | 0.987 |
| 4:69734249:G:T | R131S | 0.986 |
| 4:69734248:C:G | R131P | 0.984 |
| 4:69727186:A:G | W265R | 0.982 |
| 4:69727186:A:T | W265R | 0.982 |
| 4:69749771:G:C | H109D | 0.982 |
| 4:69754798:C:T | G50D | 0.982 |
| 4:69734151:G:C | F163L | 0.981 |
| 4:69734151:G:T | F163L | 0.981 |
| 4:69734153:A:G | F163L | 0.981 |
| 4:69734237:C:G | D135H | 0.980 |
| 4:69749785:C:G | R104P | 0.980 |
| 4:69754790:A:G | W53R | 0.979 |
| 4:69754790:A:T | W53R | 0.979 |
| 4:69755100:C:G | D40H | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000159891 (4:69752056 A>G), RS1000177292 (4:69728028 C>T), RS1000327752 (4:69760525 G>C), RS1000367502 (4:69723264 A>G), RS1000438930 (4:69730985 G>C), RS1000458916 (4:69754375 T>C,G), RS1000592202 (4:69721932 T>C), RS1000695652 (4:69759058 C>T), RS1000760250 (4:69742529 A>C), RS1000762084 (4:69753459 A>G), RS1000800655 (4:69723089 T>G), RS1000832130 (4:69726490 G>A), RS1000885891 (4:69726739 A>C), RS1000920673 (4:69747762 C>T), RS1000972352 (4:69747228 G>A)
Disease associations
OMIM: gene MIM:608436 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (1): schizophrenia (MONDO:0005090)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004294_5 | Nicotine dependence | 4.000000e-06 |
| GCST006462_25 | Uterine fibroids | 6.000000e-13 |
| GCST009158_40 | Uterine fibroids | 4.000000e-14 |
| GCST011947_28 | White matter hyperintensity volume | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743294 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation, decreases expression | 4 |
| bisphenol A | decreases expression, increases metabolic processing, affects cotreatment, increases methylation | 3 |
| Aflatoxin B1 | increases expression, decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| perfluorooctanoic acid | increases expression | 2 |
| 4-nitrophenol | affects binding, decreases reaction, increases metabolic processing | 2 |
| perfluorooctane sulfonic acid | increases expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | increases expression | 1 |
| perfluorodecanesulfonic acid | increases expression | 1 |
| 2,4-dichlorophenol | decreases activity | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| nuciferine | increases abundance, increases metabolic processing | 1 |
| 2,4,5-trichlorophenol | decreases activity | 1 |
| enilconazole | decreases expression | 1 |
| 2-amino-3-methyl-9H-pyrido(2,3-b)indole | increases activity | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2,4,6-trichlorophenol | decreases activity | 1 |
| 2-amino-3-methylimidazo(4,5-f)quinoline | increases expression | 1 |
| 2-chlorophenol | decreases activity | 1 |
| 2,3,4,6-tetrachlorophenol | decreases activity | 1 |
| 1-hydroxypyrene | increases metabolic processing | 1 |
| 2,3,5,6-tetrachlorophenate | decreases activity | 1 |
| 2,3,4,5-tetrachlorophenate | decreases activity | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| 4-nonylphenol | increases metabolic processing | 1 |
| 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine | increases expression | 1 |
| 1-hydroxymethylpyrene | affects cotreatment, increases activity | 1 |
| 4-octylphenol | increases metabolic processing | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1743306 | ADMET | Major substrate of human cytosolic sulfotransferase SULT1B1 | Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Associated diseases: schizophrenia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): nicotine dependence, uterine corpus leiomyoma