SULT1A2
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Also known as HAST4
Summary
SULT1A2 (sulfotransferase family 1A member 2, HGNC:11454) is a protein-coding gene on chromosome 16p11.2, encoding Sulfotransferase 1A2 (P50226). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters.
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 one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described.
Source: NCBI Gene 6799 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 73 total
- Druggable target: yes
- MANE Select transcript:
NM_001054
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11454 |
| Approved symbol | SULT1A2 |
| Name | sulfotransferase family 1A member 2 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HAST4 |
| Ensembl gene | ENSG00000197165 |
| Ensembl biotype | protein_coding |
| OMIM | 601292 |
| Entrez | 6799 |
Gene structure
Transcript identifiers
Ensembl transcripts: 52 — 51 protein_coding, 1 nonsense_mediated_decay
ENST00000335715, ENST00000395630, ENST00000526384, ENST00000533150, ENST00000534108, ENST00000898323, ENST00000898324, ENST00000898325, ENST00000898326, ENST00000898327, ENST00000898328, ENST00000898329, ENST00000898330, ENST00000898331, ENST00000898332, ENST00000898333, ENST00000898334, ENST00000898335, ENST00000898336, ENST00000898337, ENST00000898338, ENST00000898339, ENST00000898340, ENST00000898341, ENST00000898342, ENST00000898343, ENST00000898344, ENST00000898345, ENST00000898346, ENST00000898347, ENST00000898348, ENST00000898349, ENST00000898350, ENST00000898351, ENST00000898352, ENST00000898353, ENST00000898354, ENST00000898355, ENST00000898356, ENST00000898357, ENST00000898358, ENST00000898359, ENST00000898360, ENST00000898361, ENST00000898362, ENST00000898363, ENST00000898364, ENST00000898365, ENST00000966913, ENST00000966914, ENST00000966915, ENST00000966916
RefSeq mRNA: 10 — MANE Select: NM_001054
NM_001054, NM_001363863, NM_001400258, NM_001400259, NM_001400260, NM_001400261, NM_001400262, NM_001400263, NM_001400264, NM_177528
CCDS: CCDS10636, CCDS86513
Canonical transcript exons
ENST00000335715 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001594137 | 28595367 | 28595464 |
| ENSE00001638355 | 28595783 | 28595934 |
| ENSE00001736719 | 28596997 | 28597050 |
| ENSE00001758609 | 28592263 | 28592443 |
| ENSE00001759576 | 28595550 | 28595675 |
| ENSE00003551762 | 28593252 | 28593346 |
| ENSE00003652030 | 28593442 | 28593568 |
| ENSE00003667965 | 28591943 | 28592140 |
Expression profiles
Bgee: expression breadth ubiquitous, 128 present calls, max score 95.24.
FANTOM5 (CAGE): breadth broad, TPM avg 0.5304 / max 42.5217, expressed in 196 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156896 | 0.1934 | 77 |
| 156898 | 0.1372 | 69 |
| 156897 | 0.1012 | 43 |
| 156899 | 0.0985 | 51 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 95.24 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.90 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.43 | gold quality |
| liver | UBERON:0002107 | 89.14 | gold quality |
| rectum | UBERON:0001052 | 84.48 | gold quality |
| small intestine | UBERON:0002108 | 82.96 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.95 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.36 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 76.92 | gold quality |
| transverse colon | UBERON:0001157 | 76.81 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 76.40 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 76.20 | gold quality |
| thyroid gland | UBERON:0002046 | 75.63 | gold quality |
| right lung | UBERON:0002167 | 75.02 | gold quality |
| lung | UBERON:0002048 | 73.27 | gold quality |
| intestine | UBERON:0000160 | 72.03 | gold quality |
| spleen | UBERON:0002106 | 70.72 | gold quality |
| granulocyte | CL:0000094 | 70.62 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 69.24 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 69.08 | gold quality |
| cerebellum | UBERON:0002037 | 69.01 | gold quality |
| cerebellar cortex | UBERON:0002129 | 68.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 68.79 | gold quality |
| placenta | UBERON:0001987 | 68.40 | gold quality |
| colon | UBERON:0001155 | 68.34 | gold quality |
| cortex of kidney | UBERON:0001225 | 67.90 | gold quality |
| blood | UBERON:0000178 | 67.65 | gold quality |
| right atrium auricular region | UBERON:0006631 | 67.60 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 66.60 | gold quality |
| kidney | UBERON:0002113 | 66.50 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 67.75 |
| E-ANND-3 | yes | 8.77 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 12)
- SULT1A2 polymorphisms in 230 Taiwanese breast cancer patients (PMID:12373301)
- the relationship among the polymorphisms of this enzyme and SULT1A1 in different types of cancers in Taiwanese (PMID:12469224)
- SULT1A1*2 and SULT1A2*2 are the major allelic variants in the Korean population (PMID:16133548)
- SULT1A1/SULT1A2 gene complex showed suggestive haplotypic association in the family-based cardiovascular disease study, with the greatest increase in risk conferred by the SULT1A2 235T allele (PMID:18259693)
- the structures of SULT1A2 and an allozyme of SULT1A1, SULT1A1 *3, bound with 3’-phosphoadenosine 5’-phosphate at 2.4 and 2.3A resolution, respectively, were determined. (PMID:20417180)
- the statistical hypothesis that SULT1A1 and SULT1A2 alleles are independently distributed was rejected; a strongly positive linkage was detected between SULT1A1*2 and SULT1A2*2 alleles in Turkey population (PMID:20936502)
- resequenced the SULT1A2 and SULT1A2 genes and identified 51 variations in ethnic Koreans, including 9 that were previously unknown. Allele frequencies, haplotype structures, LD blocks, and haplotype-tagging SNPs were determined. (PMID:23358261)
- SULT1A2 genotype also seems to play an important role in maintaining optimal levels of both 4OH-TAM and endoxifen. (PMID:23922954)
- It metabolizes breast cancer drugs like afimoxifene and endoxifen by sulfation. (PMID:26169578)
- The polymorphism of SULT1A2*2 is not associated with esophageal squamous cell carcinoma risk. (PMID:26455829)
- Suggest SULT1A1/1A2 play a central role in furfuryl alcohol bioactivation and the formation of hemoglobin adducts. (PMID:29908303)
- Association of SULT1A2 rs1059491 with obesity and dyslipidaemia in southern Chinese adults. (PMID:37142702)
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sult1st4 | ENSDARG00000003181 |
| danio_rerio | sult5a1 | ENSDARG00000007769 |
| danio_rerio | sult1st3 | ENSDARG00000018361 |
| danio_rerio | sult1st1 | ENSDARG00000028275 |
| danio_rerio | sult2st3 | ENSDARG00000028367 |
| danio_rerio | sult2st1 | ENSDARG00000033170 |
| danio_rerio | sult1st2 | ENSDARG00000041540 |
| danio_rerio | sult1st7 | ENSDARG00000079079 |
| danio_rerio | sult1st9 | ENSDARG00000094996 |
| danio_rerio | sult2st2 | ENSDARG00000103785 |
| mus_musculus | Sult5a1 | ENSMUSG00000000739 |
| rattus_norvegicus | Sult5a1 | ENSRNOG00000015695 |
| 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), SULT1C4 (ENSG00000198075), SULT1C2 (ENSG00000198203), SULT1A4 (ENSG00000213648), SULT1A3 (ENSG00000261052)
Protein
Protein identifiers
Sulfotransferase 1A2 — P50226 (reviewed: P50226)
Alternative names: Aryl sulfotransferase 2, Phenol sulfotransferase 2, Phenol-sulfating phenol sulfotransferase 2
All UniProt accessions (4): E9PKR8, E9PKW4, E9PM76, P50226
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 catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Similarity. Belongs to the sulfotransferase 1 family.
RefSeq proteins (10): NP_001045, NP_001350792, NP_001387187, NP_001387188, NP_001387189, NP_001387190, NP_001387191, NP_001387192, NP_001387193, NP_803564 (=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)
- EC 2.8.2.9 — tyrosine-ester sulfotransferase (BRENDA: 4 organisms, 83 substrates, 56 inhibitors, 70 Km, 20 kcat entries)
Substrate kinetics (BRENDA)
227 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 |
| 4-NITROPHENOL | 0.0077–1.25 | 6 |
Catalyzed reactions (Rhea), 1 shown:
- a phenol + 3’-phosphoadenylyl sulfate = an aryl sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:12164)
UniProt features (43 total): helix 15, binding site 7, sequence variant 6, strand 6, turn 6, chain 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1Z29 | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P50226-F1 | 96.76 | 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): 108 (proton acceptor)
Ligand- & substrate-binding residues (7): 48–53; 106–108; 130; 138; 193; 227–232; 255–259
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: 90 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SULFATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODRIGUES_NTN1_TARGETS_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, chr16p11, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, TGGNNNNNNKCCAR_UNKNOWN
GO Biological Process (9): ethanol catabolic process (GO:0006068), catecholamine metabolic process (GO:0006584), xenobiotic metabolic process (GO:0006805), steroid metabolic process (GO:0008202), amine biosynthetic process (GO:0009309), phenol-containing compound metabolic process (GO:0018958), 3’-phosphoadenosine 5’-phosphosulfate metabolic process (GO:0050427), sulfation (GO:0051923), lipid metabolic process (GO:0006629)
GO Molecular Function (5): aryl sulfotransferase activity (GO:0004062), sulfotransferase activity (GO:0008146), flavonol 3-sulfotransferase activity (GO:0047894), 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 | 2 |
| sulfur compound metabolic process | 2 |
| sulfotransferase activity | 2 |
| cellular anatomical structure | 2 |
| ethanol metabolic process | 1 |
| primary alcohol catabolic process | 1 |
| biogenic amine metabolic process | 1 |
| catechol-containing compound metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| lipid metabolic process | 1 |
| biosynthetic process | 1 |
| amine metabolic process | 1 |
| purine ribonucleotide metabolic process | 1 |
| purine ribonucleoside bisphosphate metabolic process | 1 |
| oxoacid metabolic process | 1 |
| primary metabolic process | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SULT1A2 | GOT1 | P17174 | 784 |
| SULT1A2 | STS | P08842 | 641 |
| SULT1A2 | APOBR | Q0VD83 | 507 |
| SULT1A2 | UGT1A4 | P22310 | 505 |
| SULT1A2 | CYP1A2 | P05177 | 486 |
| SULT1A2 | UGT1A6 | P19224 | 477 |
| SULT1A2 | UGT1A10 | Q9HAW8 | 477 |
| SULT1A2 | TUFM | P49411 | 472 |
| SULT1A2 | CYP1A1 | P04798 | 466 |
| SULT1A2 | UGT1A7 | Q9HAW7 | 448 |
| SULT1A2 | UGT2B7 | P16662 | 434 |
| SULT1A2 | SH2B1 | Q9NRF2 | 434 |
| SULT1A2 | UGT1A8 | Q9HAW9 | 431 |
| SULT1A2 | NPIPB9 | F8W1W9 | 431 |
| SULT1A2 | SLC35A2 | P78381 | 430 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SULT1A2 | NIF3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PHF11 | SULT1A2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STX19 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1A1 | SULT1A3 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1A2 | SULT1A3 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1A2 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT4A1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (34): NIF3L1 (Two-hybrid), SULT1A2 (Affinity Capture-MS), SULT1A2 (Affinity Capture-MS), SULT1A2 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), CALCOCO2 (Affinity Capture-MS), SULT1A2 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A2 (Affinity Capture-MS), SULT1A2 (Affinity Capture-MS), CALCOCO2 (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), SULT1A2 (Proximity Label-MS)
ESM2 similar proteins: A0A2K5X3B6, B2RVI8, F1QYJ6, G3V9R3, O00338, O43704, O46503, O75897, P0CC03, P0DMM9, P0DMN0, P15709, P17988, P19217, P22789, P49887, P49888, P49891, P50225, P50226, P50227, P50234, P50235, P50236, P50237, P52840, P52841, P52842, P52843, P52844, P52846, P52847, Q06520, Q29476, Q3T0Y3, Q3UZZ6, Q6IMI4, Q6IMI6, Q6PH37, Q6WG17
Diamond homologs: A0A173GP47, A0A2K5X3B6, B2RVI8, F1QYJ6, G3V9R3, O00204, O00338, O35400, O35403, O43704, O46503, O46640, O75897, P0CC03, P0DMM9, P0DMN0, P15709, P17988, P19217, P22789, P49887, P49888, P49891, P50225, P50226, P50227, P50234, P50235, P50236, P50237, P52835, P52836, P52837, P52838, P52840, P52841, P52842, P52843, P52844, P52846
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1017 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:28592136:CATGC:C | acceptor_gain | 1.0000 |
| 16:28592137:ATGC:A | acceptor_gain | 1.0000 |
| 16:28592138:TGC:T | acceptor_gain | 1.0000 |
| 16:28592139:GC:G | acceptor_gain | 1.0000 |
| 16:28592140:CC:C | acceptor_gain | 1.0000 |
| 16:28592141:C:CC | acceptor_gain | 1.0000 |
| 16:28592141:CTG:C | acceptor_loss | 1.0000 |
| 16:28592142:T:A | acceptor_loss | 1.0000 |
| 16:28592260:TAC:T | donor_loss | 1.0000 |
| 16:28592261:A:AC | donor_gain | 1.0000 |
| 16:28592262:C:CC | donor_gain | 1.0000 |
| 16:28592262:CCT:C | donor_gain | 1.0000 |
| 16:28592262:CCTTT:C | donor_gain | 1.0000 |
| 16:28592266:T:A | donor_gain | 1.0000 |
| 16:28592479:TTG:T | acceptor_gain | 1.0000 |
| 16:28592480:TG:T | acceptor_gain | 1.0000 |
| 16:28592480:TGCT:T | acceptor_loss | 1.0000 |
| 16:28592481:GC:G | acceptor_loss | 1.0000 |
| 16:28592482:C:CC | acceptor_gain | 1.0000 |
| 16:28593474:T:A | donor_gain | 1.0000 |
| 16:28593565:CCAC:C | acceptor_gain | 1.0000 |
| 16:28593566:CACC:C | acceptor_gain | 1.0000 |
| 16:28593569:C:CA | acceptor_loss | 1.0000 |
| 16:28593570:T:A | acceptor_loss | 1.0000 |
| 16:28595361:TCTCA:T | donor_loss | 1.0000 |
| 16:28595362:CTCA:C | donor_loss | 1.0000 |
| 16:28595363:TCACC:T | donor_loss | 1.0000 |
| 16:28595364:CA:C | donor_loss | 1.0000 |
| 16:28595366:C:G | donor_loss | 1.0000 |
| 16:28595465:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
1954 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:28595787:C:A | K48N | 0.985 |
| 16:28595787:C:G | K48N | 0.985 |
| 16:28592273:G:C | F255L | 0.983 |
| 16:28592273:G:T | F255L | 0.983 |
| 16:28592275:A:G | F255L | 0.983 |
| 16:28593467:G:C | F158L | 0.981 |
| 16:28593467:G:T | F158L | 0.981 |
| 16:28593469:A:G | F158L | 0.981 |
| 16:28593542:C:A | K133N | 0.980 |
| 16:28593542:C:G | K133N | 0.980 |
| 16:28592408:A:C | F210L | 0.979 |
| 16:28592408:A:T | F210L | 0.979 |
| 16:28592410:A:G | F210L | 0.979 |
| 16:28593455:G:C | F162L | 0.975 |
| 16:28593455:G:T | F162L | 0.975 |
| 16:28593457:A:G | F162L | 0.975 |
| 16:28593515:G:C | F142L | 0.975 |
| 16:28593515:G:T | F142L | 0.975 |
| 16:28593517:A:G | F142L | 0.975 |
| 16:28593332:A:G | W172R | 0.971 |
| 16:28593332:A:T | W172R | 0.971 |
| 16:28593311:A:G | W179R | 0.970 |
| 16:28593311:A:T | W179R | 0.970 |
| 16:28593541:C:G | D134H | 0.969 |
| 16:28592088:G:C | F276L | 0.968 |
| 16:28592088:G:T | F276L | 0.968 |
| 16:28592090:A:G | F276L | 0.968 |
| 16:28593564:A:T | V126D | 0.967 |
| 16:28595581:G:C | F81L | 0.966 |
| 16:28595581:G:T | F81L | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000239720 (16:28594201 A>C,T), RS1000822859 (16:28594452 ATATT>A), RS1001580254 (16:28598056 T>A,C), RS1001693338 (16:28593940 C>T), RS1001873413 (16:28594113 G>A,C,T), RS1002178126 (16:28598227 T>C), RS1002764692 (16:28597244 A>G,T), RS1003547303 (16:28596216 G>A,T), RS1004674909 (16:28594738 C>T), RS1005073667 (16:28597856 G>A), RS1005268686 (16:28593795 C>T), RS1006048896 (16:28597203 G>A), RS1006069970 (16:28596845 G>A,C), RS1006322834 (16:28593080 C>G,T), RS1006535355 (16:28597814 C>A)
Disease associations
OMIM: gene MIM:601292 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000531_2 | Inflammatory bowel disease (early onset) | 2.000000e-09 |
| GCST000830_13 | Body mass index | 2.000000e-20 |
| GCST001725_52 | Inflammatory bowel disease | 1.000000e-21 |
| GCST002598_62 | Educational attainment | 1.000000e-06 |
| GCST003435_31 | Body fat percentage | 1.000000e-08 |
| GCST003435_41 | Body fat percentage | 7.000000e-07 |
| GCST004131_83 | Inflammatory bowel disease | 2.000000e-12 |
| GCST004132_69 | Crohn’s disease | 3.000000e-10 |
| GCST006409_24 | Allergic rhinitis | 5.000000e-10 |
| GCST007044_23 | Extremely high intelligence | 2.000000e-08 |
| GCST007293_116 | Body fat distribution (arm fat ratio) | 2.000000e-08 |
| GCST007293_16 | Body fat distribution (arm fat ratio) | 4.000000e-09 |
| GCST007293_43 | Body fat distribution (arm fat ratio) | 2.000000e-12 |
| GCST007294_71 | Body fat distribution (trunk fat ratio) | 2.000000e-12 |
| GCST007294_97 | Body fat distribution (trunk fat ratio) | 1.000000e-11 |
| GCST007295_20 | Body fat distribution (leg fat ratio) | 3.000000e-06 |
| GCST007295_44 | Body fat distribution (leg fat ratio) | 1.000000e-21 |
| GCST007295_79 | Body fat distribution (leg fat ratio) | 2.000000e-24 |
| GCST010133_15 | Lamb consumption | 3.000000e-08 |
| GCST010703_152 | Brain morphology (MOSTest) | 3.000000e-09 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004784 | self reported educational attainment |
| EFO:0007800 | body fat percentage |
| EFO:0004337 | intelligence |
| EFO:0004341 | body fat distribution |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL1743292 (SINGLE PROTEIN), CHEMBL3542433 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1059491 | NPIPB8, SULT1A2 | 0.00 | 0 | ||
| rs1136703 | NPIPB8, SULT1A2 | 0.00 | 0 | ||
| rs1801030 | NPIPB8, SULT1A1, SULT1A2 | 0.00 | 0 |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine | affects cotreatment, increases response to substance, increases activity, increases metabolic processing, increases abundance | 3 |
| bisphenol A | affects expression, decreases methylation | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| 3-nitrobenzanthrone | affects cotreatment, increases activity, increases reaction, increases reduction | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| afuresertib | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| 5-hydroxymethylfurfural | affects cotreatment, increases response to substance, increases activity | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| N-hydroxy-4-aminobiphenyl | increases sulfation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 2-amino-3-methyl-9H-pyrido(2,3-b)indole | increases activity | 1 |
| 1-hydroxypyrene | increases metabolic processing | 1 |
| catechol | increases sulfation | 1 |
| caffeic acid | increases sulfation | 1 |
| fipronil | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| 2-amino-1-methyl-6-phenolimidazo(4,5-b)pyridine-DNA adduct | increases abundance, increases metabolic processing | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Resveratrol | increases sulfation | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases 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 |
|---|---|---|---|
| CHEMBL1743315 | ADMET | Major substrate of human cytosolic sulfotransferase SULT1A2 | 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): allergic rhinitis, Crohn disease, inflammatory bowel disease