SULT4A1
gene geneOn this page
Also known as SULTX3hBR-STL-1
Summary
SULT4A1 (sulfotransferase family 4A member 1, HGNC:14903) is a protein-coding gene on chromosome 22q13.31, encoding Sulfotransferase 4A1 (Q9BR01). Atypical sulfotransferase family member with very low affinity for 3’-phospho-5’-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol.
This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia.
Source: NCBI Gene 25830 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 25 total
- Druggable target: yes
- MANE Select transcript:
NM_014351
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14903 |
| Approved symbol | SULT4A1 |
| Name | sulfotransferase family 4A member 1 |
| Location | 22q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SULTX3, hBR-STL-1 |
| Ensembl gene | ENSG00000130540 |
| Ensembl biotype | protein_coding |
| OMIM | 608359 |
| Entrez | 25830 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000330884, ENST00000422525, ENST00000432404, ENST00000475131, ENST00000884819
RefSeq mRNA: 1 — MANE Select: NM_014351
NM_014351
CCDS: CCDS14051
Canonical transcript exons
ENST00000330884 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000656917 | 43841802 | 43841932 |
| ENSE00001329677 | 43824509 | 43826113 |
| ENSE00001898165 | 43862214 | 43862513 |
| ENSE00003494578 | 43833640 | 43833734 |
| ENSE00003551642 | 43839945 | 43840025 |
| ENSE00003565255 | 43829060 | 43829198 |
| ENSE00003687849 | 43838867 | 43838993 |
Expression profiles
Bgee: expression breadth ubiquitous, 187 present calls, max score 97.72.
FANTOM5 (CAGE): breadth broad, TPM avg 4.4216 / max 189.5421, expressed in 410 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194515 | 2.3946 | 216 |
| 194516 | 1.7414 | 362 |
| 194514 | 0.2341 | 82 |
| 209495 | 0.0514 | 33 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 97.72 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.69 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.43 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.34 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.25 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.18 | gold quality |
| frontal cortex | UBERON:0001870 | 97.14 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.87 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.85 | gold quality |
| neocortex | UBERON:0001950 | 96.52 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.52 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.49 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.47 | gold quality |
| frontal pole | UBERON:0002795 | 96.40 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.35 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.30 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 96.20 | gold quality |
| cerebellum | UBERON:0002037 | 96.18 | gold quality |
| occipital lobe | UBERON:0002021 | 95.99 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 95.72 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.71 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.64 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.32 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.22 | gold quality |
| pons | UBERON:0000988 | 94.75 | gold quality |
| cortical plate | UBERON:0005343 | 94.65 | gold quality |
| telencephalon | UBERON:0001893 | 94.19 | gold quality |
| hypothalamus | UBERON:0001898 | 94.00 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 93.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.93 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF2, CREB1
miRNA regulators (miRDB)
76 targeting SULT4A1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-142-3P | 99.62 | 71.30 | 974 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
Literature-anchored findings (GeneRIF, showing 12)
- the first immunohistochemical localization of SULT4A1 in human brain (PMID:14623933)
- Candidate gene for schizophrenia susceptibility. (PMID:16152568)
- These results provide the first evidence of how genetic variation in Sult4A1 may be related to clinical symptoms and cognitive function in schizophrenia (PMID:18823757)
- The lack of polymorphisms in the coding region of the SULT4A1 gene is highly unusual and, along with its high conservation between species, suggests that SULT4A1 may have an important function in vivo. (PMID:19125109)
- Cytosolic SULT4A1 interacts with PIN1. (PMID:19439498)
- determination of SULT4A1-1 haplotype status might be useful for identifying patients who show an enhanced response to long-term olanzapine treatment. (PMID:21521020)
- This study provides a second replication of superior olanzapine response in SULT4A1-1-positive subjects compared with SULT4A1-1-negative subjects. (PMID:24956247)
- These results show that SULT4A1 is widely expressed in human tissues, but mostly as a splice variant that produces a rapidly degraded protein. Dimerization protects the protein from degradation. (PMID:24988429)
- Across three psychiatric disorders (n=2815 patients), we observed no consistent association between SULT4A1-1 status and atypical antipsychotic effect (PMID:25340730)
- Study using SH-SY5Y cells, human induced pluripotent stem cells, and mouse embryonic tissue revealed time-dependent changes in SULT4A1 protein and MBNL/CELF protein during differentiation supported their role in correctly splicing the SULT4A1 mRNA. Furthermore, ectopic expression of each factor produced efficient splicing in the minigene assay as well as correct splicing of the endogenous SULT4A1 mRNA. (PMID:30606728)
- Study in SULT4A1 knockout mice demonstrates that depletion of SULT4A1 induces oxidative stress in neurons and expression of SULT4A1 in human SH-SY5Y cells protects against oxidative-stress-induced mitochondrial dysfunction and cell death. Results suggest that SULT4A1 may have a crucial protective function against mitochondrial dysfunction and oxidative stress. (PMID:31266751)
- Interaction of the Brain-Selective Sulfotransferase SULT4A1 with Other Cytosolic Sulfotransferases: Effects on Protein Expression and Function. (PMID:32152050)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sult4a1 | ENSDARG00000101967 |
| mus_musculus | Sult4a1 | ENSMUSG00000018865 |
| rattus_norvegicus | Sult4a1 | ENSRNOG00000046975 |
| drosophila_melanogaster | St4 | FBGN0033887 |
| drosophila_melanogaster | St1 | FBGN0034887 |
| drosophila_melanogaster | St3 | FBGN0265052 |
Paralogs (12): SULT2B1 (ENSG00000088002), SULT2A1 (ENSG00000105398), SULT1E1 (ENSG00000109193), SULT6B1 (ENSG00000138068), SULT1B1 (ENSG00000173597), SULT1C3 (ENSG00000196228), SULT1A1 (ENSG00000196502), SULT1A2 (ENSG00000197165), SULT1C4 (ENSG00000198075), SULT1C2 (ENSG00000198203), SULT1A4 (ENSG00000213648), SULT1A3 (ENSG00000261052)
Protein
Protein identifiers
Sulfotransferase 4A1 — Q9BR01 (reviewed: Q9BR01)
Alternative names: Brain sulfotransferase-like protein, Nervous system sulfotransferase
All UniProt accessions (3): Q9BR01, B7Z2E1, F8WE22
UniProt curated annotations — full annotation on UniProt →
Function. Atypical sulfotransferase family member with very low affinity for 3’-phospho-5’-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS.
Subcellular location. Cytoplasm.
Tissue specificity. Highly expressed in the cerebral cortex and frontal lobe, slightly less in the cerebellum, occipital and temporal lobes, relatively low in the medulla and putamen, and lowest in the spinal cord. No expression detected in the pancreas. Highly expressed in fetal brain and occipital lobe, slightly less in the whole brain, frontal lobe, hippocampus, and lung, very low expression in cerebellum, medulla oblongata, temporal lobe, testis, kidney and appendix.
Similarity. Belongs to the sulfotransferase 1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BR01-1 | 1 | yes |
| Q9BR01-2 | 2 |
RefSeq proteins (1): NP_055166* (*=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 |
UniProt features (31 total): helix 15, strand 8, modified residue 3, sequence conflict 2, chain 1, turn 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1ZD1 | X-RAY DIFFRACTION | 2.24 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BR01-F1 | 87.72 | 0.71 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 8, 11, 205
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: 180 (showing top):
ATF_B, GOBP_DENDRITE_DEVELOPMENT, REACTOME_BIOLOGICAL_OXIDATIONS, MORF_FLT1, CAR_TNFRSF25, MORF_MSH3, MODULE_45, MORF_BRCA1, GOBP_NEUROGENESIS, MORF_ESR1, MODULE_16, GOBP_SULFATION, MORF_RAD51L3, MODULE_66, ATF1_Q6
GO Biological Process (5): steroid metabolic process (GO:0008202), sulfation (GO:0051923), dendrite arborization (GO:0140059), lipid metabolic process (GO:0006629), sulfur compound metabolic process (GO:0006790)
GO Molecular Function (4): sulfotransferase activity (GO:0008146), identical protein binding (GO:0042802), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), 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 |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| lipid metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| dendrite morphogenesis | 1 |
| neuron projection arborization | 1 |
| primary metabolic process | 1 |
| metabolic process | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| protein binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1390 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SULT4A1 | SLC35B2 | Q8TB61 | 924 |
| SULT4A1 | SLC35D3 | Q5M8T2 | 743 |
| SULT4A1 | SLC35D2 | Q76EJ3 | 681 |
| SULT4A1 | SLC35D1 | Q9NTN3 | 669 |
| SULT4A1 | RABL2B | Q9UNT1 | 512 |
| SULT4A1 | CTXN1 | P60606 | 490 |
| SULT4A1 | PAPSS1 | O43252 | 448 |
| SULT4A1 | RABL2A | Q9UBK7 | 447 |
| SULT4A1 | KMT2E | Q8IZD2 | 435 |
| SULT4A1 | KCNH7 | Q9NS40 | 424 |
| SULT4A1 | BEX1 | Q9HBH7 | 413 |
| SULT4A1 | LZTS1 | Q9Y250 | 412 |
| SULT4A1 | SHANK3 | Q9BYB0 | 411 |
| SULT4A1 | PAPSS2 | O95340 | 406 |
| SULT4A1 | PARVB | Q9HBI1 | 400 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SULT4A1 | MAPK8IP3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SULT4A1 | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SULT4A1 | PIN1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| PIN1 | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| BCL6B | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TGM1 | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SULT4A1 | POT1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SULT4A1 | AKT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT4A1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SULT4A1 | SULT1A3 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL6B | TUBA3C | psi-mi:“MI:0914”(association) | 0.350 |
| SULT4A1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| POT1 | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SULT4A1 | MAPK8IP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SULT4A1 | TGM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SULT4A1 | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RUNX1 | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): DPH2 (Affinity Capture-MS), ANKRD13C (Affinity Capture-MS), DPH1 (Affinity Capture-MS), SULT4A1 (Affinity Capture-MS), SULT4A1 (Two-hybrid), SULT4A1 (Affinity Capture-MS), PARVG (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), ERMN (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), MAPK3 (Biochemical Activity), PPP2R4 (Biochemical Activity), PPP2R2B (Reconstituted Complex), PPP2R2B (Affinity Capture-Western), SULT4A1 (Two-hybrid)
ESM2 similar proteins: A0A2H5AIX7, F1B282, F1B283, H2DH22, K4CI52, O24312, O42231, O42430, O42457, O81928, P04798, P37114, P37115, P48522, P56591, P63046, P63047, P92994, P93596, P93846, Q04468, Q05JG2, Q07217, Q09J79, Q42797, Q43033, Q43054, Q43067, Q43240, Q5KQT7, Q5W6F1, Q6GUR1, Q6TBX7, Q92095, Q92100, Q92109, Q92110, Q92116, Q949P1, Q94IP1
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK3 | down-regulates | SULT4A1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1919 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:43829055:CGTA:C | donor_loss | 1.0000 |
| 22:43829056:GTA:G | donor_loss | 1.0000 |
| 22:43829057:TA:T | donor_loss | 1.0000 |
| 22:43829058:A:AC | donor_gain | 1.0000 |
| 22:43829058:AC:A | donor_gain | 1.0000 |
| 22:43829058:ACC:A | donor_gain | 1.0000 |
| 22:43829059:C:CC | donor_gain | 1.0000 |
| 22:43829059:C:CT | donor_loss | 1.0000 |
| 22:43829059:CC:C | donor_gain | 1.0000 |
| 22:43829059:CCC:C | donor_gain | 1.0000 |
| 22:43833730:GCCCA:G | acceptor_gain | 1.0000 |
| 22:43833731:CCCA:C | acceptor_gain | 1.0000 |
| 22:43833731:CCCAC:C | acceptor_gain | 1.0000 |
| 22:43833732:CCA:C | acceptor_gain | 1.0000 |
| 22:43833732:CCAC:C | acceptor_gain | 1.0000 |
| 22:43833733:CA:C | acceptor_gain | 1.0000 |
| 22:43833733:CAC:C | acceptor_gain | 1.0000 |
| 22:43833735:C:CC | acceptor_gain | 1.0000 |
| 22:43838866:CG:C | donor_gain | 1.0000 |
| 22:43838872:T:C | donor_gain | 1.0000 |
| 22:43838994:C:A | acceptor_loss | 1.0000 |
| 22:43838995:T:A | acceptor_loss | 1.0000 |
| 22:43839940:CTTA:C | donor_loss | 1.0000 |
| 22:43839941:TTAC:T | donor_loss | 1.0000 |
| 22:43839942:TACC:T | donor_loss | 1.0000 |
| 22:43839943:A:AC | donor_gain | 1.0000 |
| 22:43839943:A:T | donor_loss | 1.0000 |
| 22:43839944:C:CC | donor_gain | 1.0000 |
| 22:43839944:C:CT | donor_loss | 1.0000 |
| 22:43840021:AGTTC:A | acceptor_gain | 1.0000 |
AlphaMissense
1890 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:43826099:A:G | W253R | 0.999 |
| 22:43826099:A:T | W253R | 0.999 |
| 22:43833720:A:G | W175R | 0.999 |
| 22:43833720:A:T | W175R | 0.999 |
| 22:43838892:G:C | F161L | 0.999 |
| 22:43838892:G:T | F161L | 0.999 |
| 22:43838894:A:G | F161L | 0.999 |
| 22:43838967:C:A | K136N | 0.999 |
| 22:43838967:C:G | K136N | 0.999 |
| 22:43838971:G:T | P135H | 0.999 |
| 22:43838973:G:C | N134K | 0.999 |
| 22:43838973:G:T | N134K | 0.999 |
| 22:43839996:G:C | S110R | 0.999 |
| 22:43839996:G:T | S110R | 0.999 |
| 22:43839998:T:G | S110R | 0.999 |
| 22:43826086:A:G | F257S | 0.998 |
| 22:43833697:G:C | F182L | 0.998 |
| 22:43833697:G:T | F182L | 0.998 |
| 22:43833699:A:G | F182L | 0.998 |
| 22:43838880:A:C | F165L | 0.998 |
| 22:43838880:A:T | F165L | 0.998 |
| 22:43838882:A:G | F165L | 0.998 |
| 22:43838893:A:G | F161S | 0.998 |
| 22:43838940:G:C | F145L | 0.998 |
| 22:43838940:G:T | F145L | 0.998 |
| 22:43838942:A:G | F145L | 0.998 |
| 22:43838977:C:G | R133P | 0.998 |
| 22:43839991:A:G | L112P | 0.998 |
| 22:43839995:G:C | H111D | 0.998 |
| 22:43862228:G:A | T52I | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000061949 (22:43832084 C>A), RS1000074666 (22:43845187 C>G), RS1000111178 (22:43856999 T>C), RS1000211923 (22:43860446 C>A,T), RS1000310438 (22:43850073 G>A,C), RS1000341945 (22:43855114 C>T), RS1000368215 (22:43842581 C>G,T), RS1000441978 (22:43842780 G>A), RS1000479692 (22:43824140 A>G), RS1000565741 (22:43860732 T>C,G), RS1000575929 (22:43827378 C>T), RS1000608732 (22:43829742 C>T), RS1000646241 (22:43840755 G>A), RS1000714775 (22:43858562 C>G), RS1000771574 (22:43835350 G>C)
Disease associations
OMIM: gene MIM:608359 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001843_4 | Type 2 diabetes (dietary heme iron intake interaction) | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008355 | dietary heme iron intake measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743298 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| ethylbenzene | affects cotreatment, decreases expression, increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| 4-nitrophenol | increases metabolic processing | 1 |
| 2-naphthol | increases metabolic processing | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Estrone | increases metabolic processing | 1 |
| Lead | affects expression | 1 |
| Rotenone | decreases expression | 1 |
| Thyroxine | increases metabolic processing | 1 |
| Toluene | affects cotreatment, decreases expression, increases methylation | 1 |
| Triclosan | increases expression | 1 |
| Triiodothyronine | increases metabolic processing | 1 |
| Xylenes | affects cotreatment, decreases expression, increases methylation | 1 |
| 2-Naphthylamine | increases metabolic processing | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 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 |
|---|---|---|---|
| CHEMBL1743313 | ADMET | Major substrate of human cytosolic sulfotransferase SULT4A1_v1 | 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.