UST
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Also known as 2OST
Summary
UST (uronyl 2-sulfotransferase, HGNC:17223) is a protein-coding gene on chromosome 6q25.1, encoding Uronyl 2-sulfotransferase (Q9Y2C2). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to the 2-OH position of uronyl residues in glycosaminoglycan chains.
Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).
Source: NCBI Gene 10090 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_005715
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17223 |
| Approved symbol | UST |
| Name | uronyl 2-sulfotransferase |
| Location | 6q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 2OST |
| Ensembl gene | ENSG00000111962 |
| Ensembl biotype | protein_coding |
| OMIM | 610752 |
| Entrez | 10090 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000367463, ENST00000466695, ENST00000473631, ENST00000912224, ENST00000912225
RefSeq mRNA: 1 — MANE Select: NM_005715
NM_005715
CCDS: CCDS5213
Canonical transcript exons
ENST00000367463 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000765065 | 149019139 | 149019236 |
| ENSE00000765068 | 149021324 | 149021481 |
| ENSE00000813604 | 148953872 | 148953951 |
| ENSE00001124309 | 148886986 | 148887029 |
| ENSE00001129037 | 148941279 | 148941434 |
| ENSE00001444568 | 149073833 | 149076990 |
| ENSE00001444569 | 148747030 | 148747677 |
| ENSE00003619910 | 148964410 | 148964563 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 89.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6691 / max 133.1498, expressed in 1508 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 70444 | 10.3203 | 1482 |
| 70443 | 0.9614 | 726 |
| 70456 | 0.2487 | 47 |
| 70446 | 0.1386 | 37 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pons | UBERON:0000988 | 89.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.60 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.52 | gold quality |
| tibia | UBERON:0000979 | 89.23 | gold quality |
| hypothalamus | UBERON:0001898 | 88.32 | gold quality |
| substantia nigra | UBERON:0002038 | 87.94 | gold quality |
| sural nerve | UBERON:0015488 | 87.56 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.20 | gold quality |
| thyroid gland | UBERON:0002046 | 87.17 | gold quality |
| midbrain | UBERON:0001891 | 87.15 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.75 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.32 | gold quality |
| spinal cord | UBERON:0002240 | 86.25 | gold quality |
| skin of hip | UBERON:0001554 | 86.19 | gold quality |
| synovial joint | UBERON:0002217 | 85.97 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 85.50 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 85.22 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.54 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 84.03 | gold quality |
| periodontal ligament | UBERON:0008266 | 83.81 | gold quality |
| body of pancreas | UBERON:0001150 | 83.13 | gold quality |
| cartilage tissue | UBERON:0002418 | 82.49 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 82.35 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.23 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 82.11 | gold quality |
| thoracic aorta | UBERON:0001515 | 81.87 | gold quality |
| ascending aorta | UBERON:0001496 | 81.83 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 81.65 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 81.61 | gold quality |
| tibial nerve | UBERON:0001323 | 81.03 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 29.81 |
| E-HCAD-25 | yes | 15.51 |
| E-ANND-3 | yes | 5.50 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
149 targeting UST, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
Literature-anchored findings (GeneRIF, showing 4)
- 2OST transfers sulfate preferentially to the GlcA residue located in a unique sequence, -GalNAc(4SO(4))-GlcA-GalNAc(6SO(4))-. (PMID:16192264)
- analysis of differences and similarities various residues play in the biological roles of the HS-2OST and CS-2OST enzymes (PMID:17227754)
- Statistical analysis showed the strongest evidence for a variant located in an intron of UST associated with job-related exhaustion. (PMID:23620144)
- Results show that overexpression of 2OST alone in the HEK293 cells did not appreciably affect heparan sulfate (HS) chain length. Also, its simultaneous overexpression with Hsepi abolished the effect of Hsepi overexpression on the HS chain lengh. (PMID:27511124)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | usta | ENSDARG00000006044 |
| danio_rerio | ustb | ENSDARG00000102715 |
| mus_musculus | Ust | ENSMUSG00000047712 |
| rattus_norvegicus | Ust | ENSRNOG00000016381 |
| drosophila_melanogaster | pip | FBGN0003089 |
Paralogs (1): HS2ST1 (ENSG00000153936)
Protein
Protein identifiers
Uronyl 2-sulfotransferase — Q9Y2C2 (reviewed: Q9Y2C2)
Alternative names: Chondroitin sulfate 2-O-sulfotransferase
All UniProt accessions (1): Q9Y2C2
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to the 2-OH position of uronyl residues in glycosaminoglycan chains. Has mainly activity toward iduronyl residues in dermatan sulfate, and toward glucuronyl residues of chondroitin sulfate. Has little to no activity toward desulfated N-resulfated heparin or N-sulfoheparosan.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Widely expressed.
Similarity. Belongs to the sulfotransferase 3 family.
RefSeq proteins (1): NP_005706* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005331 | Sulfotransferase | Family |
| IPR007734 | Heparan_SO4_2-O-STrfase | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF03567
UniProt features (27 total): mutagenesis site 14, glycosylation site 5, topological domain 2, chain 1, sequence variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2C2-F1 | 79.64 | 0.54 |
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): 168
Glycosylation sites (5): 173, 319, 84, 140, 155
Mutagenesis-validated functional residues (14):
| Position | Phenotype |
|---|---|
| 109 | severe reduction of sulfotransferase activity but no effect on 3’-phosphoadenylyl sulfate substrate binding; probably di |
| 112 | loss of sulfotransferase activity due to disruption of binding to the substrate 3’-phosphoadenylyl sulfate. |
| 113 | severe reduction of sulfotransferase activity due to disruption of binding to the substrate 3’-phosphoadenylyl sulfate. |
| 115 | loss of sulfotransferase activity due to disruption of binding to the substrate 3’-phosphoadenylyl sulfate. |
| 116 | severe reduction of sulfotransferase activity due to disruption of binding to the substrate 3’-phosphoadenylyl sulfate. |
| 166 | no loss of sulfotransferase activity. |
| 167 | some loss of sulfotransferase activity. |
| 168 | abolishes sulfotransferase activity but does not affect 3’-phosphoadenylyl sulfate substrate binding. |
| 189 | loss of sulfotransferase activity due to disruption of binding to the substrate 3’-phosphoadenylyl sulfate. |
| 197 | severe reduction of sulfotransferase activity due to disruption of binding to the substrate 3’-phosphoadenylyl sulfate. |
| 203 | complete loss of sulfotransferase activity but only moderate reduction of 3’-phosphoadenylyl sulfate substrate binding; |
| 206 | complete loss of sulfotransferase activity but only moderate reduction of 3’-phosphoadenylyl sulfate substrate binding; |
| 221 | no effect on sulfotransferase activity. |
| 321 | severely abrogates sulfotransferase activity but does not affect 3’-phosphoadenylyl sulfate substrate binding; may be in |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022870 | CS-GAG biosynthesis |
| R-HSA-2022923 | DS-GAG biosynthesis |
MSigDB gene sets: 189 (showing top):
GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, TATTATA_MIR374, GOBP_NEUROGENESIS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, TTGGGAG_MIR150, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, chr6q25, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, ACATTCC_MIR1_MIR206, AACTTT_UNKNOWN
GO Biological Process (4): establishment of cell polarity (GO:0030010), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), dermatan sulfate proteoglycan biosynthetic process (GO:0050651), regulation of axonogenesis (GO:0050770)
GO Molecular Function (5): sulfotransferase activity (GO:0008146), chondroitin 2-sulfotransferase activity (GO:0034482), 3’-phosphoadenosine 5’-phosphosulfate binding (GO:0050656), dermatan 2-sulfotransferase activity (GO:0102142), transferase activity (GO:0016740)
GO Cellular Component (3): Golgi membrane (GO:0000139), membrane (GO:0016020), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Chondroitin sulfate/dermatan sulfate metabolism | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| proteoglycan biosynthetic process | 2 |
| protein O-linked glycosylation via xylose | 2 |
| establishment or maintenance of cell polarity | 1 |
| chondroitin sulfate proteoglycan metabolic process | 1 |
| dermatan sulfate proteoglycan metabolic process | 1 |
| axonogenesis | 1 |
| regulation of neuron projection development | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| chondroitin sulfotransferase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| anion binding | 1 |
| sulfur compound binding | 1 |
| dermatan sulfotransferase activity | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
334 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UST | HS3ST1 | O14792 | 791 |
| UST | NDST2 | P52849 | 669 |
| UST | NDST1 | P52848 | 668 |
| UST | DSE | Q9UL01 | 580 |
| UST | EXT1 | Q16394 | 571 |
| UST | GLCE | O94923 | 564 |
| UST | HS3ST3B1 | Q9Y662 | 555 |
| UST | EXT2 | Q93063 | 548 |
| UST | NDST3 | O95803 | 544 |
| UST | HS3ST4 | Q9Y661 | 532 |
| UST | HS3ST5 | Q8IZT8 | 526 |
| UST | HS3ST2 | Q9Y278 | 502 |
| UST | HS3ST3A1 | Q9Y663 | 501 |
| UST | CHST12 | Q9NRB3 | 497 |
| UST | EXTL3 | O43909 | 486 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| MRAP2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CLGN | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRAP2 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| UST | CANX | psi-mi:“MI:0914”(association) | 0.530 |
| Dlg4 | UST | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| UST | PCYOX1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UST | ADRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| MRAP2 | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| EFNA4 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGN | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM59 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SCARA5 | COLGALT2 | psi-mi:“MI:0914”(association) | 0.350 |
| UST | NMU | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A6 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC49A4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | UST | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (57): UST (Affinity Capture-MS), SLC27A6 (Affinity Capture-MS), INHBE (Affinity Capture-MS), PPT2 (Affinity Capture-MS), CANX (Affinity Capture-MS), DCAKD (Affinity Capture-MS), PON2 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), XYLT2 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), JAG2 (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), LDLR (Affinity Capture-MS), IMPAD1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8C2LVE3, A2BGL3, F4HXW9, O08889, O17645, O43909, O43916, O93336, O93403, O95461, P25722, P69478, P79948, Q0IIY2, Q2TBF2, Q5NDE4, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDE8, Q5NVB3, Q5R621, Q5RJQ0, Q5XHM7, Q66PG1, Q66PG2, Q66PG3, Q6DBY9, Q6NVP8, Q6P9A2, Q6PA90, Q76EC5, Q76KB1, Q7LFX5, Q7LGA3, Q7LGC8, Q7T3S3, Q800H9, Q8BUB6, Q8CHI9
Diamond homologs: A0A8C2LVE3, O08889, O17645, O93336, P25722, Q5R621, Q76KB1, Q7LGA3, Q86BJ3, Q8BUB6, Q8R3H7, Q9Y2C2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2912 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:148747675:TGGGT:T | donor_loss | 1.0000 |
| 6:148747676:GG:G | donor_gain | 1.0000 |
| 6:148747676:GGGTA:G | donor_loss | 1.0000 |
| 6:148747677:GG:G | donor_gain | 1.0000 |
| 6:148747677:GGTA:G | donor_loss | 1.0000 |
| 6:148747678:G:C | donor_loss | 1.0000 |
| 6:148747679:T:G | donor_loss | 1.0000 |
| 6:148831297:G:GT | donor_gain | 1.0000 |
| 6:148886980:TTCTA:T | acceptor_loss | 1.0000 |
| 6:148886981:TCTAG:T | acceptor_loss | 1.0000 |
| 6:148886982:CTAGG:C | acceptor_loss | 1.0000 |
| 6:148886983:TAGG:T | acceptor_loss | 1.0000 |
| 6:148886984:A:AG | acceptor_gain | 1.0000 |
| 6:148886984:A:C | acceptor_loss | 1.0000 |
| 6:148886984:AG:A | acceptor_gain | 1.0000 |
| 6:148886985:G:GG | acceptor_gain | 1.0000 |
| 6:148886985:GG:G | acceptor_gain | 1.0000 |
| 6:148887028:AGGTA:A | donor_loss | 1.0000 |
| 6:148887030:GTAA:G | donor_loss | 1.0000 |
| 6:148887031:T:G | donor_loss | 1.0000 |
| 6:148941274:CCCA:C | acceptor_loss | 1.0000 |
| 6:148941275:CCAG:C | acceptor_loss | 1.0000 |
| 6:148941276:CAGG:C | acceptor_loss | 1.0000 |
| 6:148941277:A:T | acceptor_loss | 1.0000 |
| 6:148941278:G:A | acceptor_loss | 1.0000 |
| 6:148941431:ACAA:A | donor_gain | 1.0000 |
| 6:148941432:CAA:C | donor_gain | 1.0000 |
| 6:148941432:CAAGT:C | donor_loss | 1.0000 |
| 6:148941433:AA:A | donor_gain | 1.0000 |
| 6:148941433:AAG:A | donor_loss | 1.0000 |
AlphaMissense
2676 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:148941306:T:G | Y107D | 1.000 |
| 6:148941311:C:A | N108K | 1.000 |
| 6:148941311:C:G | N108K | 1.000 |
| 6:148941313:G:C | R109T | 1.000 |
| 6:148941313:G:T | R109M | 1.000 |
| 6:148941314:G:C | R109S | 1.000 |
| 6:148941314:G:T | R109S | 1.000 |
| 6:148941318:G:C | G111R | 1.000 |
| 6:148941318:G:T | G111C | 1.000 |
| 6:148941319:G:A | G111D | 1.000 |
| 6:148941319:G:T | G111V | 1.000 |
| 6:148941321:A:C | K112Q | 1.000 |
| 6:148941321:A:G | K112E | 1.000 |
| 6:148941322:A:C | K112T | 1.000 |
| 6:148941322:A:T | K112M | 1.000 |
| 6:148941323:G:C | K112N | 1.000 |
| 6:148941323:G:T | K112N | 1.000 |
| 6:148941324:T:C | C113R | 1.000 |
| 6:148941325:G:A | C113Y | 1.000 |
| 6:148941325:G:T | C113F | 1.000 |
| 6:148941326:T:G | C113W | 1.000 |
| 6:148941327:G:T | G114W | 1.000 |
| 6:148941328:G:A | G114E | 1.000 |
| 6:148941330:A:C | S115R | 1.000 |
| 6:148941331:G:T | S115I | 1.000 |
| 6:148941332:C:A | S115R | 1.000 |
| 6:148941332:C:G | S115R | 1.000 |
| 6:148941334:G:C | R116P | 1.000 |
| 6:148941433:A:C | Q149P | 1.000 |
| 6:148953879:T:C | L152P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005208 (6:148818007 C>T), RS1000033127 (6:149046740 G>A), RS1000056751 (6:148774971 T>C), RS1000061724 (6:148863317 G>A), RS1000078274 (6:149065234 G>A,T), RS1000085951 (6:148768996 G>A), RS1000119488 (6:148927106 A>G), RS1000119707 (6:148996651 A>G), RS1000119795 (6:148913479 A>C,G), RS1000148692 (6:148946202 A>G), RS1000152056 (6:148767294 A>C), RS1000170331 (6:148749701 A>G), RS1000170508 (6:148996457 G>T), RS1000181649 (6:149011513 G>T), RS1000186725 (6:148843844 T>C)
Disease associations
OMIM: gene MIM:610752 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000643_4 | Response to antidepressants | 9.000000e-06 |
| GCST000643_8 | Response to antidepressants | 4.000000e-08 |
| GCST001983_1 | Job-related exhaustion | 7.000000e-07 |
| GCST002681_5 | Post-traumatic stress disorder | 2.000000e-06 |
| GCST006061_208 | Atrial fibrillation | 8.000000e-17 |
| GCST006061_209 | Atrial fibrillation | 3.000000e-17 |
| GCST006111_2 | Diastolic blood pressure x sodium interaction (2df test) | 7.000000e-09 |
| GCST006112_1 | Diastolic blood pressure x sodium interaction (1df test) | 3.000000e-09 |
| GCST006414_120 | Atrial fibrillation | 1.000000e-24 |
| GCST006585_2763 | Blood protein levels | 1.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0009282 | sodium measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2500535 | Efficacy | 3 | nortriptyline | Major Depressive Disorder |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2500535 | UST | 3 | 0.00 | 1 | nortriptyline |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, decreases expression | 4 |
| bisphenol A | decreases methylation, increases expression | 2 |
| sodium arsenite | affects splicing, decreases expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Aflatoxin B1 | affects methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, decreases expression | 1 |
| diallyl trisulfide | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Panobinostat | affects expression, affects cotreatment | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Calcitriol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, affects expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
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): occupation-related stress disorder, post-traumatic stress disorder