HS3ST3A1
gene geneOn this page
Also known as 3OST3A130ST3A1
Summary
HS3ST3A1 (heparan sulfate-glucosamine 3-sulfotransferase 3A1, HGNC:5196) is a protein-coding gene on chromosome 17p12, encoding Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 (Q9Y663). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate.
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta.
Source: NCBI Gene 9955 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_006042
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5196 |
| Approved symbol | HS3ST3A1 |
| Name | heparan sulfate-glucosamine 3-sulfotransferase 3A1 |
| Location | 17p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 3OST3A1, 30ST3A1 |
| Ensembl gene | ENSG00000153976 |
| Ensembl biotype | protein_coding |
| OMIM | 604057 |
| Entrez | 9955 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000284110, ENST00000578576
RefSeq mRNA: 1 — MANE Select: NM_006042
NM_006042
CCDS: CCDS11165
Canonical transcript exons
ENST00000284110 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001013372 | 13494032 | 13496818 |
| ENSE00001220529 | 13600531 | 13601929 |
Expression profiles
Bgee: expression breadth ubiquitous, 176 present calls, max score 93.63.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5176 / max 127.3264, expressed in 1066 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164652 | 5.1391 | 1062 |
| 164650 | 0.1898 | 111 |
| 164651 | 0.1887 | 106 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cartilage tissue | UBERON:0002418 | 93.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.31 | gold quality |
| tibia | UBERON:0000979 | 89.25 | gold quality |
| gingival epithelium | UBERON:0001949 | 88.42 | gold quality |
| gingiva | UBERON:0001828 | 87.94 | gold quality |
| oral cavity | UBERON:0000167 | 85.72 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 83.78 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 82.80 | gold quality |
| renal glomerulus | UBERON:0000074 | 82.41 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 81.53 | gold quality |
| seminal vesicle | UBERON:0000998 | 80.98 | gold quality |
| squamous epithelium | UBERON:0006914 | 80.17 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.77 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 77.32 | silver quality |
| choroid plexus epithelium | UBERON:0003911 | 76.06 | gold quality |
| left ovary | UBERON:0002119 | 75.92 | gold quality |
| ovary | UBERON:0000992 | 73.18 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.90 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 72.84 | silver quality |
| spleen | UBERON:0002106 | 71.62 | gold quality |
| esophagus mucosa | UBERON:0002469 | 71.48 | gold quality |
| right ovary | UBERON:0002118 | 71.29 | gold quality |
| sural nerve | UBERON:0015488 | 70.56 | gold quality |
| metanephros | UBERON:0000081 | 70.15 | gold quality |
| kidney epithelium | UBERON:0004819 | 69.48 | gold quality |
| ectocervix | UBERON:0012249 | 68.59 | gold quality |
| periodontal ligament | UBERON:0008266 | 68.57 | silver quality |
| endocervix | UBERON:0000458 | 68.51 | gold quality |
| esophagus | UBERON:0001043 | 67.27 | gold quality |
| tonsil | UBERON:0002372 | 67.23 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | yes | 6.66 |
| E-CURD-10 | no | 122.80 |
| E-ANND-3 | no | 3.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
147 targeting HS3ST3A1, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
Literature-anchored findings (GeneRIF, showing 4)
- Genetic variants of HS3ST3A1 and HS3ST3B1 are associated with Plasmodium falciparum parasitaemia. (PMID:22475533)
- decreased in pre-eclamptic placental tissue (PMID:26410339)
- Our findings define 3-OST3A as a novel regulator of breast cancer pathogenicity, displaying tumor-suppressive or oncogenic activities in a cell- and tumor-dependent context, and demonstrate the clinical value of the HS-O-sulfotransferase 3-OST3A as a prognostic marker in HER2+ patients. (PMID:27041583)
- Detection of MUC1 and HS3ST2 promoter methylation status appears to be useful molecular markers for assessing the progressive state of the disease and could be helpful in discriminating breast cancer molecular subtypes. These results validate the methylation-based microarray analysis, thus trust their output in the future. (PMID:28618938)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hs3st1l2 | ENSDARG00000035578 |
| danio_rerio | si:dkey-121b10.7 | ENSDARG00000059948 |
| danio_rerio | hs3st3b1a | ENSDARG00000099149 |
| mus_musculus | Hs3st3a1 | ENSMUSG00000047759 |
| rattus_norvegicus | Hs3st3a1 | ENSRNOG00000024591 |
| drosophila_melanogaster | sfl | FBGN0020251 |
| caenorhabditis_elegans | WBGENE00002028 |
Paralogs (10): HS3ST1 (ENSG00000002587), NDST1 (ENSG00000070614), HS3ST2 (ENSG00000122254), HS3ST3B1 (ENSG00000125430), NDST4 (ENSG00000138653), HS3ST6 (ENSG00000162040), NDST3 (ENSG00000164100), NDST2 (ENSG00000166507), HS3ST4 (ENSG00000182601), HS3ST5 (ENSG00000249853)
Protein
Protein identifiers
Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 — Q9Y663 (reviewed: Q9Y663)
Alternative names: Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1
All UniProt accessions (2): Q9Y663, J3KSX5
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 an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike HS3ST1/3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Ubiquitous. Most abundant in heart and placenta, followed by liver and kidney.
Similarity. Belongs to the sulfotransferase 1 family.
RefSeq proteins (1): NP_006033* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR037359 | NST/OST | Family |
Pfam: PF00685
Enzyme classification (BRENDA):
- EC 2.8.2.30 — [heparan sulfate]-glucosamine 3-sulfotransferase 3 (BRENDA: 5 organisms, 27 substrates, 0 inhibitors, 1 Km, 0 kcat entries)
Catalyzed reactions (Rhea), 1 shown:
- alpha-D-glucosaminyl-heparan sulfate + 3’-phosphoadenylyl sulfate = 3-sulfo-alpha-D-glucosaminyl-heparan sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:15461)
UniProt features (71 total): mutagenesis site 23, helix 16, binding site 10, strand 10, compositionally biased region 3, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, disulfide bond 1, region of interest 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6XKG | X-RAY DIFFRACTION | 1.55 |
| 1T8T | X-RAY DIFFRACTION | 1.85 |
| 1T8U | X-RAY DIFFRACTION | 1.95 |
| 6XL8 | X-RAY DIFFRACTION | 2.34 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y663-F1 | 82.14 | 0.68 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (10): 184–190; 215–218; 243; 251; 255–259; 283–284; 367–370; 368–372; 162–166; 166
Disulfide bonds (1): 351–363
Glycosylation sites (2): 273, 344
Mutagenesis-validated functional residues (23):
| Position | Phenotype |
|---|---|
| 161 | 99.6% loss of enzymatic activity. |
| 162 | 99.6% loss of enzymatic activity; no hsv1 entry activity. |
| 166 | 99.8% loss of enzymatic activity. |
| 170 | 17% loss of enzymatic activity. |
| 173 | 44.1% loss of enzymatic activity. |
| 182 | no effect on enzymatic activity. |
| 184 | 99.9% loss of enzymatic activity. |
| 186 | abolishes enzymatic activity. |
| 189 | 99.1% loss of enzymatic activity. |
| 190 | 32% loss of enzymatic activity. |
| 194 | 99.5% loss of enzymatic activity. |
| 215 | 99.9% loss of enzymatic activity. |
| 218 | 23.3% loss of enzymatic activity. |
| 224 | 47.6% loss of enzymatic activity. |
| 255 | 99.6% loss of enzymatic activity. |
| 259 | 48.3% loss of enzymatic activity. |
| 288 | 65% loss of enzymatic activity. |
| 293 | 33.6% loss of enzymatic activity. |
| 362 | no effect on enzymatic activity. |
| 365 | 43% loss of enzymatic activity. |
| 366 | 99.8% loss of enzymatic activity. |
| 368 | 99.9% loss of enzymatic activity. |
| 370 | 99.2% loss of enzymatic activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022928 | HS-GAG biosynthesis |
MSigDB gene sets: 180 (showing top):
ATF_B, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, chr17p12, GOBP_EPITHELIUM_DEVELOPMENT, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, USF_C, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, CDP_01, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_NEPHRON_EPITHELIUM_DEVELOPMENT, ATF1_Q6, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS
GO Biological Process (3): branching involved in ureteric bud morphogenesis (GO:0001658), glycosaminoglycan biosynthetic process (GO:0006024), heparan sulfate proteoglycan biosynthetic process (GO:0015012)
GO Molecular Function (3): sulfotransferase activity (GO:0008146), [heparan sulfate]-glucosamine 3-sulfotransferase activity (GO:0008467), 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 |
|---|---|
| Heparan sulfate/heparin (HS-GAG) metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| branching morphogenesis of an epithelial tube | 1 |
| ureteric bud morphogenesis | 1 |
| aminoglycan biosynthetic process | 1 |
| glycosaminoglycan metabolic process | 1 |
| proteoglycan biosynthetic process | 1 |
| heparan sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| heparan sulfate 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
372 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HS3ST3A1 | SULT1C4 | O75897 | 838 |
| HS3ST3A1 | SULT1B1 | O43704 | 834 |
| HS3ST3A1 | SULT1C3 | Q6IMI6 | 833 |
| HS3ST3A1 | HS2ST1 | Q7LGA3 | 644 |
| HS3ST3A1 | HS6ST2 | Q96MM7 | 557 |
| HS3ST3A1 | HS6ST1 | O60243 | 547 |
| HS3ST3A1 | HS6ST3 | Q8IZP7 | 518 |
| HS3ST3A1 | GLCE | O94923 | 506 |
| HS3ST3A1 | UST | Q9Y2C2 | 501 |
| HS3ST3A1 | K7EP71 | K7EP71 | 486 |
| HS3ST3A1 | XYLT1 | Q86Y38 | 476 |
| HS3ST3A1 | CHST12 | Q9NRB3 | 436 |
| HS3ST3A1 | CSGALNACT2 | Q8N6G5 | 429 |
| HS3ST3A1 | EXT1 | Q16394 | 428 |
| HS3ST3A1 | CDRT15 | Q96T59 | 417 |
IntAct
1 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): HS3ST3A1 (Affinity Capture-RNA), HS3ST3A1 (Affinity Capture-MS), HS3ST3A1 (Two-hybrid)
ESM2 similar proteins: A1A4K5, A2BGL3, D4PHA7, O43916, O88199, O95461, Q0IIY2, Q2TBF2, Q3TCT4, Q505J3, Q5DTK1, Q5NDE3, Q5NDE9, Q5NDF0, Q5NDF1, Q5NDF2, Q5QQ49, Q5QQ56, Q5QQ57, Q5REF6, Q5RJQ0, Q658N2, Q66PG1, Q66PG2, Q66PG3, Q66PG4, Q6L8S8, Q6L9W6, Q70JA7, Q7LFX5, Q7LGC8, Q80TS8, Q80XH4, Q811B1, Q86Y38, Q8BW41, Q8CHI9, Q8NAT1, Q8R4K8, Q91XQ5
Diamond homologs: O14792, O35310, O95803, O97583, Q5GFD5, Q673U1, Q80W66, Q8BKN6, Q8BSL4, Q8IZT8, Q96QI5, Q9EQW8, Q9ESG5, Q9H3R1, Q9QZS6, Q9Y278, Q9Y661, Q9Y662, Q9Y663, P52849, Q60V90, Q966W3, Q9EQH7, Q9V3L1, P52848, P52850, Q02353, Q3UHN9, Q5U4X8, Q6GQK9, Q55GK8, Q91XQ5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1193 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:13496814:GGTCC:G | acceptor_gain | 1.0000 |
| 17:13496815:GTCC:G | acceptor_gain | 1.0000 |
| 17:13496816:TCC:T | acceptor_gain | 1.0000 |
| 17:13496817:CC:C | acceptor_gain | 1.0000 |
| 17:13496817:CCC:C | acceptor_gain | 1.0000 |
| 17:13496818:CC:C | acceptor_gain | 1.0000 |
| 17:13496818:CCTGA:C | acceptor_loss | 1.0000 |
| 17:13496819:C:CC | acceptor_gain | 1.0000 |
| 17:13496819:C:T | acceptor_gain | 1.0000 |
| 17:13496820:T:C | acceptor_loss | 1.0000 |
| 17:13496815:GTCCC:G | acceptor_gain | 0.9900 |
| 17:13496816:TCCCT:T | acceptor_gain | 0.9900 |
| 17:13496817:CCCTG:C | acceptor_gain | 0.9900 |
| 17:13496827:C:CT | acceptor_gain | 0.9900 |
| 17:13546816:T:C | acceptor_gain | 0.9900 |
| 17:13600557:G:C | donor_gain | 0.9900 |
| 17:13600529:A:AC | donor_gain | 0.9800 |
| 17:13600530:C:CC | donor_gain | 0.9800 |
| 17:13581031:T:C | acceptor_gain | 0.9700 |
| 17:13600525:GCTCA:G | donor_loss | 0.9700 |
| 17:13600526:CTCA:C | donor_loss | 0.9700 |
| 17:13600527:TCA:T | donor_loss | 0.9700 |
| 17:13600529:A:AG | donor_loss | 0.9700 |
| 17:13600530:CC:C | donor_loss | 0.9700 |
| 17:13496829:C:CT | acceptor_gain | 0.9600 |
| 17:13496830:A:T | acceptor_gain | 0.9600 |
| 17:13497465:T:A | donor_gain | 0.9500 |
| 17:13496818:CCT:C | acceptor_gain | 0.9400 |
| 17:13533294:T:C | donor_gain | 0.9400 |
| 17:13546816:T:TC | acceptor_gain | 0.9400 |
AlphaMissense
2617 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:13496237:A:G | F394S | 1.000 |
| 17:13496304:G:C | H372D | 1.000 |
| 17:13496309:C:A | R370M | 1.000 |
| 17:13496309:C:G | R370T | 1.000 |
| 17:13496312:C:T | G369D | 1.000 |
| 17:13496313:C:A | G369C | 1.000 |
| 17:13496313:C:G | G369R | 1.000 |
| 17:13496314:C:A | K368N | 1.000 |
| 17:13496314:C:G | K368N | 1.000 |
| 17:13496315:T:A | K368M | 1.000 |
| 17:13496327:A:T | L364Q | 1.000 |
| 17:13496329:G:C | C363W | 1.000 |
| 17:13496330:C:A | C363F | 1.000 |
| 17:13496330:C:G | C363S | 1.000 |
| 17:13496330:C:T | C363Y | 1.000 |
| 17:13496331:A:G | C363R | 1.000 |
| 17:13496331:A:T | C363S | 1.000 |
| 17:13496365:G:C | C351W | 1.000 |
| 17:13496366:C:A | C351F | 1.000 |
| 17:13496366:C:G | C351S | 1.000 |
| 17:13496366:C:T | C351Y | 1.000 |
| 17:13496367:A:G | C351R | 1.000 |
| 17:13496367:A:T | C351S | 1.000 |
| 17:13496371:G:C | F349L | 1.000 |
| 17:13496371:G:T | F349L | 1.000 |
| 17:13496372:A:C | F349C | 1.000 |
| 17:13496372:A:G | F349S | 1.000 |
| 17:13496373:A:C | F349V | 1.000 |
| 17:13496373:A:G | F349L | 1.000 |
| 17:13496377:C:A | K347N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005817 (17:13561522 G>T), RS1000005956 (17:13542292 G>T), RS1000014652 (17:13506558 T>C), RS1000052801 (17:13511116 C>A), RS1000058307 (17:13561263 T>A,C,G), RS1000063977 (17:13598905 A>T), RS1000064602 (17:13520018 A>C), RS1000105337 (17:13585118 T>C), RS1000122367 (17:13580587 G>A,C,T), RS1000123483 (17:13548238 G>A), RS1000123707 (17:13555771 G>A), RS1000135907 (17:13550154 CATTTT>C), RS1000136465 (17:13585792 G>A), RS1000193676 (17:13593099 A>G), RS1000199492 (17:13549360 G>A,T)
Disease associations
OMIM: gene MIM:604057 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000107_11 | Tonometry | 4.000000e-06 |
| GCST003075_27 | Cognitive decline rate in late mild cognitive impairment | 8.000000e-08 |
| GCST003075_58 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-07 |
| GCST003628_8 | Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia | 5.000000e-06 |
| GCST004283_9 | Midgestational circulating levels of PCBs | 8.000000e-06 |
| GCST004750_11 | Squamous cell lung carcinoma | 4.000000e-06 |
| GCST007831_3 | Anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 1.000000e-06 |
| GCST007851_4 | Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 4.000000e-06 |
| GCST010147_1 | White matter hyperintensity volume | 3.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
| EFO:0007042 | polychlorinated biphenyls measurement |
| EFO:0007964 | gestational serum measurement |
| EFO:0005665 | white matter hyperintensity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression, increases methylation | 6 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| lead acetate | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| cupric chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects methylation | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Nickel | increases expression | 1 |
| Selenium | decreases 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.