CHST12
gene geneOn this page
Also known as C4S-2C4ST2
Summary
CHST12 (carbohydrate sulfotransferase 12, HGNC:17423) is a protein-coding gene on chromosome 7p22.3, encoding Carbohydrate sulfotransferase 12 (Q9NRB3). Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate.
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5’ UTRs have been found for this gene.
Source: NCBI Gene 55501 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 91 total — 1 pathogenic
- MANE Select transcript:
NM_018641
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17423 |
| Approved symbol | CHST12 |
| Name | carbohydrate sulfotransferase 12 |
| Location | 7p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | C4S-2, C4ST2 |
| Ensembl gene | ENSG00000136213 |
| Ensembl biotype | protein_coding |
| OMIM | 610129 |
| Entrez | 55501 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000258711, ENST00000313156, ENST00000432336, ENST00000618655, ENST00000852327, ENST00000852328, ENST00000852329, ENST00000852330, ENST00000852331, ENST00000852332, ENST00000852333, ENST00000852334, ENST00000852335, ENST00000852336, ENST00000941705, ENST00000941706
RefSeq mRNA: 3 — MANE Select: NM_018641
NM_001243794, NM_001243795, NM_018641
CCDS: CCDS5333
Canonical transcript exons
ENST00000618655 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003714081 | 2432563 | 2448484 |
| ENSE00003730161 | 2403611 | 2403673 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 93.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8105 / max 224.5924, expressed in 1751 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 76973 | 7.8105 | 1751 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 93.16 | gold quality |
| secondary oocyte | CL:0000655 | 92.59 | gold quality |
| oocyte | CL:0000023 | 91.51 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.19 | gold quality |
| granulocyte | CL:0000094 | 88.54 | gold quality |
| synovial joint | UBERON:0002217 | 86.69 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.22 | gold quality |
| apex of heart | UBERON:0002098 | 84.45 | gold quality |
| adult organism | UBERON:0007023 | 84.37 | gold quality |
| spleen | UBERON:0002106 | 83.58 | gold quality |
| blood | UBERON:0000178 | 83.44 | gold quality |
| bone marrow cell | CL:0002092 | 83.37 | gold quality |
| sural nerve | UBERON:0015488 | 83.30 | gold quality |
| lower lobe of lung | UBERON:0008949 | 83.02 | gold quality |
| right coronary artery | UBERON:0001625 | 82.88 | gold quality |
| mucosa of stomach | UBERON:0001199 | 82.48 | gold quality |
| left coronary artery | UBERON:0001626 | 82.38 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 82.29 | gold quality |
| left uterine tube | UBERON:0001303 | 82.25 | gold quality |
| nipple | UBERON:0002030 | 82.04 | gold quality |
| coronary artery | UBERON:0001621 | 82.03 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.96 | gold quality |
| tibia | UBERON:0000979 | 81.68 | gold quality |
| endocervix | UBERON:0000458 | 81.67 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.63 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 81.60 | gold quality |
| thoracic aorta | UBERON:0001515 | 81.54 | gold quality |
| ascending aorta | UBERON:0001496 | 81.53 | gold quality |
| saphenous vein | UBERON:0007318 | 81.49 | gold quality |
| body of uterus | UBERON:0009853 | 81.39 | gold quality |
Single-cell (SCXA)
Detected in 30 experiment(s), a significant marker in 15.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 8194.57 |
| E-GEOD-150728 | yes | 5020.10 |
| E-HCAD-31 | yes | 4494.02 |
| E-HCAD-56 | yes | 3448.79 |
| E-HCAD-23 | yes | 3162.38 |
| E-MTAB-6701 | yes | 104.75 |
| E-HCAD-1 | yes | 104.74 |
| E-MTAB-8142 | yes | 99.53 |
| E-CURD-122 | yes | 36.09 |
| E-MTAB-6678 | yes | 28.88 |
| E-MTAB-10287 | yes | 28.21 |
| E-HCAD-9 | yes | 22.01 |
| E-CURD-88 | yes | 18.31 |
| E-ANND-3 | yes | 10.83 |
| E-MTAB-8410 | yes | 10.04 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RBPJ
miRNA regulators (miRDB)
18 targeting CHST12, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-3135B | 98.61 | 65.33 | 1470 |
| HSA-MIR-6779-3P | 97.51 | 65.82 | 789 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
| HSA-MIR-6759-3P | 96.94 | 68.31 | 823 |
| HSA-MIR-2276-5P | 96.27 | 65.85 | 937 |
| HSA-MIR-4524B-3P | 95.52 | 64.12 | 964 |
| HSA-MIR-4767 | 86.06 | 61.02 | 43 |
Literature-anchored findings (GeneRIF, showing 4)
- human D4ST-1, C4ST-1, and S4ST-2 have differential roles in dermatan sulfate biosynthesis (PMID:12847091)
- These results have demonstrated that CHST11 and CHST13 negatively modulate metastasis and drug resistance of HCC cells probably via oncogenic MAPK signal pathway. (PMID:26993826)
- Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease. (PMID:31845005)
- Knockdown of carbohydrate sulfotransferase 12 decreases the proliferation and mobility of glioblastoma cells via the WNT/beta-catenin pathway. (PMID:34288811)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chst12a | ENSDARG00000028786 |
| danio_rerio | chst12b.1 | ENSDARG00000077198 |
| danio_rerio | chst12b.5 | ENSDARG00000092200 |
| danio_rerio | chst12b.6 | ENSDARG00000092242 |
| danio_rerio | chst12b.4 | ENSDARG00000093636 |
| danio_rerio | chst12b.3 | ENSDARG00000094981 |
| danio_rerio | chst12b.2 | ENSDARG00000095482 |
| ENSDARG00000102655 | ||
| mus_musculus | Chst12 | ENSMUSG00000036599 |
| rattus_norvegicus | Chst12 | ENSRNOG00000001252 |
Paralogs (6): CHST10 (ENSG00000115526), CHST8 (ENSG00000124302), CHST9 (ENSG00000154080), CHST14 (ENSG00000169105), CHST11 (ENSG00000171310), CHST13 (ENSG00000180767)
Protein
Protein identifiers
Carbohydrate sulfotransferase 12 — Q9NRB3 (reviewed: Q9NRB3)
Alternative names: Chondroitin 4-O-sulfotransferase 2, Chondroitin 4-sulfotransferase 2, Sulfotransferase Hlo
All UniProt accessions (2): C9J991, Q9NRB3
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Widely expressed. Expressed a high level in spinal chord, heart, spleen, thyroid, pituitary gland, adrenal gland, peripheral blood leukocytes, thymus, lung, small intestine, fetal kidney, fetal spleen and fetal lung.
Similarity. Belongs to the sulfotransferase 2 family.
RefSeq proteins (3): NP_001230723, NP_001230724, NP_061111* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005331 | Sulfotransferase | Family |
| IPR018011 | Carb_sulfotrans_8-10 | Family |
Pfam: PF03567
Enzyme classification (BRENDA):
- EC 2.8.2.5 — chondroitin 4-sulfotransferase (BRENDA: 8 organisms, 31 substrates, 8 inhibitors, 14 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENYLYLSULFATE | 0.0003–1.4 | 6 |
| CHONDROITIN | 0.0038–2.7 | 4 |
| 3’-PHOSPHOADENYLYL SULFATE | 0.0013–0.036 | 2 |
Catalyzed reactions (Rhea), 1 shown:
- chondroitin beta-D-glucuronate + n 3’-phosphoadenylyl sulfate = chondroitin 4’-sulfate + n adenosine 3’,5’-bisphosphate + n H(+) (RHEA:16101)
UniProt features (21 total): sequence variant 5, glycosylation site 4, sequence conflict 4, topological domain 2, binding site 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRB3-F1 | 83.83 | 0.70 |
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 (2): 171–177; 245–253
Glycosylation sites (4): 280, 370, 134, 209
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022870 | CS-GAG biosynthesis |
MSigDB gene sets: 189 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, chr7p22, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GROSS_HYPOXIA_VIA_ELK3_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, SHEN_SMARCA2_TARGETS_DN, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOMF_SULFUR_COMPOUND_BINDING
GO Biological Process (4): carbohydrate biosynthetic process (GO:0016051), proteoglycan biosynthetic process (GO:0030166), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), dermatan sulfate proteoglycan biosynthetic process (GO:0050651)
GO Molecular Function (4): sulfotransferase activity (GO:0008146), chondroitin 4-sulfotransferase activity (GO:0047756), 3’-phosphoadenosine 5’-phosphosulfate binding (GO:0050656), 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 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| proteoglycan biosynthetic process | 2 |
| protein O-linked glycosylation via xylose | 2 |
| carbohydrate metabolic process | 1 |
| biosynthetic process | 1 |
| proteoglycan metabolic process | 1 |
| glycoprotein biosynthetic process | 1 |
| chondroitin sulfate proteoglycan metabolic process | 1 |
| dermatan sulfate proteoglycan metabolic process | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| chondroitin sulfotransferase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| anion binding | 1 |
| sulfur compound binding | 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
602 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHST12 | CHST7 | Q9NS84 | 811 |
| CHST12 | CHST15 | Q7LFX5 | 756 |
| CHST12 | CHST3 | Q7LGC8 | 744 |
| CHST12 | CSGALNACT2 | Q8N6G5 | 694 |
| CHST12 | CSGALNACT1 | Q8TDX6 | 665 |
| CHST12 | CHSY1 | Q86X52 | 604 |
| CHST12 | HS2ST1 | Q7LGA3 | 604 |
| CHST12 | CHPF | Q8IZ52 | 598 |
| CHST12 | DSE | Q9UL01 | 571 |
| CHST12 | CHPF2 | Q9P2E5 | 536 |
| CHST12 | GLCE | O94923 | 518 |
| CHST12 | NDST2 | P52849 | 515 |
| CHST12 | HS3ST4 | Q9Y661 | 512 |
| CHST12 | HS6ST3 | Q8IZP7 | 498 |
| CHST12 | NDST4 | Q9H3R1 | 497 |
| CHST12 | UST | Q9Y2C2 | 497 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRADD | TNF | psi-mi:“MI:0914”(association) | 0.790 |
| B3GAT3 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.640 |
| Mzt2 | TUBG1 | psi-mi:“MI:0914”(association) | 0.560 |
| DKK3 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| SDF4 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLGN | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| PON2 | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| Gspt1 | MRPL27 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX8 | CMSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR3C | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LYZL1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| MPPE1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| PTCH1 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | SEMA4F | psi-mi:“MI:0914”(association) | 0.350 |
| CHST12 | SSRP1 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DRA | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (93): CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), CHST12 (Affinity Capture-MS), XRCC6BP1 (Affinity Capture-MS), RMND1 (Affinity Capture-MS)
ESM2 similar proteins: A6QNK1, O14792, O19058, O35310, O43916, O88199, Q10979, Q11127, Q29043, Q5E9W5, Q5RJQ0, Q5XPT3, Q6P7A1, Q6XQG8, Q6XQG9, Q6XQH0, Q712G6, Q7LGC8, Q7T3S3, Q800H9, Q80WV3, Q866C5, Q866C7, Q866D2, Q866D6, Q866D9, Q866E1, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q8HYJ3, Q8HYJ4, Q8HYJ7, Q8N3Y3, Q8NET6, Q92179, Q96RP7, Q99999
Diamond homologs: O43529, O54702, P69478, Q5RBZ6, Q5XHM7, Q5ZIE4, Q6AXM1, Q6GNS1, Q6PGK7, Q76EC5, Q7L1S5, Q7T3S3, Q805E5, Q8BQ86, Q8NET6, Q99LL3, Q9H2A9, Q9JME2, Q9NPF2, Q9NRB3, Q80V53, Q8NCH0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 100 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 |
|---|---|---|---|
| Metabolism of carbohydrates and carbohydrate derivatives | 6 | 11.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
91 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 393941 | GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 | Pathogenic |
SpliceAI
400 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:2432559:GCA:G | acceptor_loss | 0.9900 |
| 7:2432561:A:AG | acceptor_gain | 0.9800 |
| 7:2432562:G:GG | acceptor_gain | 0.9800 |
| 7:2432560:CAGG:C | acceptor_gain | 0.9600 |
| 7:2432561:AG:A | acceptor_gain | 0.9600 |
| 7:2432562:GG:G | acceptor_gain | 0.9600 |
| 7:2404204:C:T | donor_gain | 0.9500 |
| 7:2432555:A:AG | acceptor_gain | 0.9500 |
| 7:2432558:TGCAG:T | acceptor_gain | 0.9500 |
| 7:2432559:GCAGG:G | acceptor_gain | 0.9500 |
| 7:2432556:T:G | acceptor_gain | 0.9400 |
| 7:2432562:GGT:G | acceptor_gain | 0.9400 |
| 7:2432562:GGTT:G | acceptor_gain | 0.9400 |
| 7:2432561:AGG:A | acceptor_gain | 0.9300 |
| 7:2432562:G:T | acceptor_gain | 0.9100 |
| 7:2432555:ATCT:A | acceptor_gain | 0.9000 |
| 7:2432558:T:TA | acceptor_gain | 0.9000 |
| 7:2422166:G:GG | donor_gain | 0.8900 |
| 7:2422168:T:A | donor_gain | 0.8900 |
| 7:2404208:T:TA | donor_gain | 0.8800 |
| 7:2403643:GAGG:G | donor_loss | 0.8700 |
| 7:2403644:AGG:A | donor_loss | 0.8700 |
| 7:2403645:GGT:G | donor_loss | 0.8700 |
| 7:2403646:G:A | donor_loss | 0.8700 |
| 7:2403647:T:A | donor_loss | 0.8700 |
| 7:2404529:GCCC:G | donor_gain | 0.8600 |
| 7:2432562:GGTTC:G | acceptor_gain | 0.8600 |
| 7:2432552:T:TA | acceptor_gain | 0.8500 |
| 7:2428565:T:TG | donor_gain | 0.8400 |
| 7:2432557:CTGCA:C | acceptor_gain | 0.8400 |
AlphaMissense
2725 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:2433142:G:A | C168Y | 0.999 |
| 7:2433143:C:G | C168W | 0.999 |
| 7:2433171:T:A | W178R | 0.999 |
| 7:2433171:T:C | W178R | 0.999 |
| 7:2433176:G:C | K179N | 0.999 |
| 7:2433176:G:T | K179N | 0.999 |
| 7:2433602:C:A | H321Q | 0.999 |
| 7:2433602:C:G | H321Q | 0.999 |
| 7:2433603:T:A | W322R | 0.999 |
| 7:2433603:T:C | W322R | 0.999 |
| 7:2433605:G:C | W322C | 0.999 |
| 7:2433605:G:T | W322C | 0.999 |
| 7:2433625:G:A | C329Y | 0.999 |
| 7:2433626:C:G | C329W | 0.999 |
| 7:2433142:G:T | C168F | 0.998 |
| 7:2433166:C:T | T176I | 0.998 |
| 7:2433173:G:C | W178C | 0.998 |
| 7:2433173:G:T | W178C | 0.998 |
| 7:2433178:G:C | R180P | 0.998 |
| 7:2433413:G:C | K258N | 0.998 |
| 7:2433413:G:T | K258N | 0.998 |
| 7:2433625:G:T | C329F | 0.998 |
| 7:2433633:T:A | C332S | 0.998 |
| 7:2433634:G:C | C332S | 0.998 |
| 7:2433138:T:G | Y167D | 0.997 |
| 7:2433141:T:C | C168R | 0.997 |
| 7:2433155:G:C | K172N | 0.997 |
| 7:2433155:G:T | K172N | 0.997 |
| 7:2433163:G:A | C175Y | 0.997 |
| 7:2433600:C:A | H321N | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000007783 (7:2413408 T>C), RS1000102436 (7:2423867 G>A), RS1000172983 (7:2422722 G>C,T), RS1000246514 (7:2422053 C>A,T), RS1000291207 (7:2418025 G>A), RS1000296298 (7:2422187 C>T), RS1000298607 (7:2448948 G>A,C), RS1000378764 (7:2441463 C>G,T), RS1000402601 (7:2444917 A>G,T), RS1000415731 (7:2447946 T>C,G), RS1000524666 (7:2411939 G>A,T), RS1000537936 (7:2423585 T>C), RS1000632985 (7:2412761 G>C,T), RS1000649014 (7:2409124 C>A,T), RS1000669999 (7:2408943 C>T)
Disease associations
OMIM: gene MIM:610129 | 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 |
|---|---|---|
| GCST001198_12 | Multiple sclerosis | 4.000000e-06 |
| GCST004777_15 | Diastolic blood pressure | 1.000000e-06 |
| GCST005759_5 | Dimensional psychopathology (Social) | 2.000000e-07 |
| GCST006258_9 | Diastolic blood pressure | 3.000000e-11 |
| GCST006259_39 | Systolic blood pressure | 1.000000e-10 |
| GCST006585_1823 | Blood protein levels | 7.000000e-11 |
| GCST007094_145 | Diastolic blood pressure | 8.000000e-10 |
| GCST007099_23 | Systolic blood pressure | 3.000000e-07 |
| GCST009597_44 | Multiple sclerosis | 3.000000e-08 |
| GCST90002398_417 | Neutrophil count | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0009100 | social domain measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, increases abundance, increases expression | 3 |
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| titanium dioxide | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | 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.