SULT1A4
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Summary
SULT1A4 (sulfotransferase family 1A member 4, HGNC:30004) is a protein-coding gene on chromosome 16p11.2, encoding Sulfotransferase 1A4 (P0DMN0). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, (R)-adrenaline/epinephrine, (R)-noradrenaline/norepinephrine and serotonin) and phenolic and ca….
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 phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains.
Source: NCBI Gene 445329 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 1 total — 1 pathogenic
- MANE Select transcript:
NM_001017390
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30004 |
| Approved symbol | SULT1A4 |
| Name | sulfotransferase family 1A member 4 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000213648 |
| Ensembl biotype | protein_coding |
| OMIM | 615819 |
| Entrez | 445329 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 14 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000360423, ENST00000562941, ENST00000563944, ENST00000565290, ENST00000569544, ENST00000871833, ENST00000871834, ENST00000871835, ENST00000871836, ENST00000871837, ENST00000871838, ENST00000871839, ENST00000871840, ENST00000871841, ENST00000923948, ENST00000957099, ENST00000957100
RefSeq mRNA: 1 — MANE Select: NM_001017390
NM_001017390
CCDS: CCDS32427
Canonical transcript exons
ENST00000360423 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001597207 | 29459913 | 29459985 |
| ENSE00002423021 | 29464463 | 29464966 |
| ENSE00003472186 | 29464160 | 29464340 |
| ENSE00003596180 | 29461638 | 29461763 |
| ENSE00003619854 | 29463567 | 29463661 |
| ENSE00003650383 | 29463345 | 29463471 |
| ENSE00003652785 | 29461382 | 29461533 |
| ENSE00003661719 | 29461853 | 29461950 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 90.14.
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 90.14 | gold quality |
| granulocyte | CL:0000094 | 88.10 | gold quality |
| duodenum | UBERON:0002114 | 87.68 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 80.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 80.47 | gold quality |
| cerebellum | UBERON:0002037 | 80.37 | gold quality |
| monocyte | CL:0000576 | 80.29 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.17 | gold quality |
| apex of heart | UBERON:0002098 | 79.85 | gold quality |
| leukocyte | CL:0000738 | 79.40 | gold quality |
| right lung | UBERON:0002167 | 77.57 | gold quality |
| right lobe of liver | UBERON:0001114 | 76.96 | gold quality |
| right coronary artery | UBERON:0001625 | 76.76 | gold quality |
| small intestine | UBERON:0002108 | 75.55 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 75.43 | gold quality |
| blood | UBERON:0000178 | 74.83 | gold quality |
| transverse colon | UBERON:0001157 | 74.53 | gold quality |
| primary visual cortex | UBERON:0002436 | 74.08 | gold quality |
| rectum | UBERON:0001052 | 73.54 | gold quality |
| cortex of kidney | UBERON:0001225 | 73.06 | gold quality |
| spleen | UBERON:0002106 | 72.97 | gold quality |
| vermiform appendix | UBERON:0001154 | 72.84 | gold quality |
| adenohypophysis | UBERON:0002196 | 72.65 | gold quality |
| intestine | UBERON:0000160 | 72.25 | gold quality |
| myometrium | UBERON:0001296 | 72.20 | gold quality |
| gall bladder | UBERON:0002110 | 72.08 | gold quality |
| colon | UBERON:0001155 | 71.50 | gold quality |
| omental fat pad | UBERON:0010414 | 71.32 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7606 | no | 12.68 |
| E-ANND-3 | no | 2.56 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 2)
- Effects of human SULT1A3/SULT1A4 genetic polymorphisms on the sulfation of acetaminophen and opioid drugs by the cytosolic sulfotransferase SULT1A3 (PMID:29705271)
- The results obtained showed clearly the differential enzymatic characteristics of SULT1A3 allozymes in mediating the sulfation of phenylephrine and salbutamol. This information may contribute toward a better understanding of the pharmacokinetics of these two drugs in individuals with distinct SULT1A3 and/or SULT1A4 genotypes. (PMID:31145702)
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), SULT1A2 (ENSG00000197165), SULT1C4 (ENSG00000198075), SULT1C2 (ENSG00000198203), SULT1A3 (ENSG00000261052)
Protein
Protein identifiers
Sulfotransferase 1A4 — P0DMN0 (reviewed: P0DMN0)
Alternative names: Aryl sulfotransferase 1A3/1A4, Sulfotransferase 1A3/1A4
All UniProt accessions (5): A0A0A6YYL2, H3BNY7, H3BRT0, P0DMN0, Q1ET61
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 monoamines (neurotransmitters such as dopamine, (R)-adrenaline/epinephrine, (R)-noradrenaline/norepinephrine and serotonin) and phenolic and catechol drugs. Catalyzes the sulfation of T4 (L-thyroxine/3,5,3’,5’-tetraiodothyronine), T3 (3,5,3’-triiodothyronine), rT3 (3,3’,5’-triiodothyronine) and 3,3’-T2 (3,3’-diiodothyronine), with a substrate preference of 3,3’-T2 > rT3 > T3 > T4.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Post-translational modifications. The N-terminus is blocked.
Similarity. Belongs to the sulfotransferase 1 family.
RefSeq proteins (1): NP_001017390* (*=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), 11 shown:
- a phenol + 3’-phosphoadenylyl sulfate = an aryl sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:12164)
- 4-nitrophenol + 3’-phosphoadenylyl sulfate = 4-nitrophenyl sulfate + adenosine 3’,5’-bisphosphate (RHEA:66548)
- 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)
- serotonin + 3’-phosphoadenylyl sulfate = serotonin O-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:83339)
- (R)-adrenaline + 3’-phosphoadenylyl sulfate = (R)-adrenaline 4’-O-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:83343)
- (R)-noradrenaline + 3’-phosphoadenylyl sulfate = (R)-noradrenaline 4’-O-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:83351)
- L-thyroxine + 3’-phosphoadenylyl sulfate = L-thyroxine sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:83575)
UniProt features (11 total): binding site 9, chain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0DMN0-F1 | 96.61 | 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 (9): 257–259; 48–53; 86; 106–108; 130; 138; 146; 193; 227–232
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: 74 (showing top):
GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SULFATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_DOPAMINE_METABOLIC_PROCESS, chr16p11, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_INDOLE_CONTAINING_COMPOUND_METABOLIC_PROCESS
GO Biological Process (9): steroid metabolic process (GO:0008202), thyroid hormone metabolic process (GO:0042403), epinephrine metabolic process (GO:0042414), norepinephrine metabolic process (GO:0042415), dopamine metabolic process (GO:0042417), serotonin metabolic process (GO:0042428), sulfation (GO:0051923), catecholamine metabolic process (GO:0006584), lipid metabolic process (GO:0006629)
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-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 |
|---|---|
| catecholamine metabolic process | 3 |
| phenol-containing compound metabolic process | 2 |
| cellular anatomical structure | 2 |
| lipid metabolic process | 1 |
| modified amino acid metabolic process | 1 |
| hormone metabolic process | 1 |
| indole-containing compound metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| biogenic amine metabolic process | 1 |
| catechol-containing compound metabolic process | 1 |
| primary 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
0 interactions, top by confidence (×1000):
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SULT1A1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.830 |
| KHDRBS2 | SULT1A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT1A3 | NIF3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT1A3 | SHMT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHMT1 | SULT1A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT1A3 | KHDRBS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT1C2 | SULT1C4 | psi-mi:“MI:0914”(association) | 0.530 |
| SMN1 | SULT1A3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK1 | SULT1A3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SULT4A1 | SULT1A3 | psi-mi:“MI:0914”(association) | 0.350 |
| MPPED2 | SULT1A3 | 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 |
| TTC1 | SULT1A3 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1C3 | 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 |
| SULT1A3 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD6B | SULT1A3 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF5 | PTGES | psi-mi:“MI:0914”(association) | 0.350 |
| ATF5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB1 | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB1 | STK25 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF5 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB1 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (53): SULT1A3 (Two-hybrid), NIF3L1 (Two-hybrid), KHDRBS2 (Two-hybrid), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1A4 (Affinity Capture-MS), SULT1A3 (Positive Genetic), SULT1A3 (Affinity Capture-MS), SULT1A3 (Affinity Capture-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, 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.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 26 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Cytosolic sulfonation of small molecules | 7 | 191.2× | 1e-13 |
| Phase II - Conjugation of compounds | 6 | 88.0× | 1e-09 |
| Biological oxidations | 6 | 41.0× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| sulfation | 8 | 337.0× | 2e-17 |
| 3’-phosphoadenosine 5’-phosphosulfate metabolic process | 7 | 314.6× | 4e-15 |
| xenobiotic metabolic process | 6 | 35.8× | 5e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979441 | GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3 | Pathogenic |
SpliceAI
1236 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:29461529:GTCTG:G | donor_gain | 1.0000 |
| 16:29461531:CTG:C | donor_gain | 1.0000 |
| 16:29461531:CTGG:C | donor_loss | 1.0000 |
| 16:29461532:TG:T | donor_gain | 1.0000 |
| 16:29461533:GG:G | donor_gain | 1.0000 |
| 16:29461533:GGTA:G | donor_loss | 1.0000 |
| 16:29461534:G:GG | donor_gain | 1.0000 |
| 16:29461535:T:G | donor_loss | 1.0000 |
| 16:29461636:A:AG | acceptor_gain | 1.0000 |
| 16:29461636:A:G | acceptor_loss | 1.0000 |
| 16:29461636:AG:A | acceptor_gain | 1.0000 |
| 16:29461637:G:GT | acceptor_gain | 1.0000 |
| 16:29461637:GG:G | acceptor_gain | 1.0000 |
| 16:29461637:GGC:G | acceptor_gain | 1.0000 |
| 16:29461637:GGCA:G | acceptor_gain | 1.0000 |
| 16:29461637:GGCAC:G | acceptor_gain | 1.0000 |
| 16:29461693:G:GT | donor_gain | 1.0000 |
| 16:29461714:C:G | donor_gain | 1.0000 |
| 16:29461760:TCAGG:T | donor_loss | 1.0000 |
| 16:29461761:CAGGT:C | donor_loss | 1.0000 |
| 16:29461762:AGG:A | donor_loss | 1.0000 |
| 16:29461763:GG:G | donor_loss | 1.0000 |
| 16:29461764:G:GG | donor_loss | 1.0000 |
| 16:29461765:T:A | donor_loss | 1.0000 |
| 16:29463340:TGCA:T | acceptor_loss | 1.0000 |
| 16:29463341:GCAGG:G | acceptor_loss | 1.0000 |
| 16:29463342:CAG:C | acceptor_loss | 1.0000 |
| 16:29463343:A:C | acceptor_loss | 1.0000 |
| 16:29463343:AGGT:A | acceptor_gain | 1.0000 |
| 16:29463344:GGTG:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1002467103 (16:29461304 A>G), RS1004158662 (16:29462065 A>T), RS1019512313 (16:29462187 G>A,T), RS1026856292 (16:29461961 G>C), RS1046612729 (16:29461297 A>T), RS1046645580 (16:29465047 G>A), RS1053924276 (16:29458102 G>A), RS1055487526 (16:29461311 A>G), RS1156507869 (16:29459427 G>A), RS1157802727 (16:29462034 C>T), RS1157947068 (16:29464813 C>T), RS1158033941 (16:29458380 C>G), RS1159478544 (16:29461566 G>T), RS1159838096 (16:29458714 T>C), RS1159941767 (16:29462439 C>A)
Disease associations
OMIM: gene MIM:615819 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs757573592 | Metabolism/PK | 3 | acetaminophen | |
| rs757573592 | Metabolism/PK | 3 | morphine |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs767263838 | SULT1A4 | 3 | 0.00 | 4 | morphine;tapentadol;o-desmethyltramadol;tramadol;acetaminophen |
| rs757573592 | SULT1A4 | 3 | 0.00 | 4 | acetaminophen;morphine;tapentadol;o-desmethyltramadol;tramadol |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression | 2 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| glycidamide | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Irinotecan | increases expression | 1 |
| Ropivacaine | increases sulfation | 1 |
| Acetaminophen | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Diethylhexyl Phthalate | affects cotreatment, affects expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Colforsin | affects cotreatment, affects expression | 1 |
| Manganese | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | 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.