CHST15
gene geneOn this page
Also known as GALNAC4S-6STBRAGKIAA0598
Summary
CHST15 (carbohydrate sulfotransferase 15, HGNC:18137) is a protein-coding gene on chromosome 10q26.13, encoding Carbohydrate sulfotransferase 15 (Q7LFX5). Sulfotransferase that transfers sulfate from 3’-phosphoadenosine 5’-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units.
Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 51363 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_001270764
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18137 |
| Approved symbol | CHST15 |
| Name | carbohydrate sulfotransferase 15 |
| Location | 10q26.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GALNAC4S-6ST, BRAG, KIAA0598 |
| Ensembl gene | ENSG00000182022 |
| Ensembl biotype | protein_coding |
| OMIM | 608277 |
| Entrez | 51363 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 18 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000346248, ENST00000435907, ENST00000462406, ENST00000476765, ENST00000628426, ENST00000874549, ENST00000874550, ENST00000874551, ENST00000874552, ENST00000874553, ENST00000874554, ENST00000874555, ENST00000874556, ENST00000874557, ENST00000874558, ENST00000917873, ENST00000956350, ENST00000956351, ENST00000956352
RefSeq mRNA: 4 — MANE Select: NM_001270764
NM_001270764, NM_001270765, NM_014863, NM_015892
CCDS: CCDS55731, CCDS7638
Canonical transcript exons
ENST00000435907 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001779488 | 124093469 | 124093598 |
| ENSE00003889415 | 124007668 | 124010339 |
| ENSE00003891635 | 124045667 | 124046724 |
| ENSE00003892357 | 124021256 | 124021412 |
| ENSE00003893135 | 124042301 | 124042447 |
| ENSE00003893332 | 124044580 | 124044919 |
| ENSE00003893902 | 124012333 | 124012480 |
| ENSE00003894408 | 124038515 | 124038671 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 97.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.9648 / max 1803.7375, expressed in 1433 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111800 | 7.3552 | 983 |
| 111805 | 6.4246 | 1285 |
| 111806 | 5.4502 | 1257 |
| 111799 | 0.9841 | 313 |
| 111803 | 0.5655 | 89 |
| 111807 | 0.3353 | 178 |
| 111801 | 0.2915 | 146 |
| 111796 | 0.2397 | 114 |
| 111804 | 0.2045 | 81 |
| 111802 | 0.1142 | 42 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 97.04 | gold quality |
| endothelial cell | CL:0000115 | 96.65 | gold quality |
| secondary oocyte | CL:0000655 | 96.48 | gold quality |
| tibia | UBERON:0000979 | 95.57 | gold quality |
| monocyte | CL:0000576 | 95.32 | gold quality |
| mononuclear cell | CL:0000842 | 95.28 | gold quality |
| leukocyte | CL:0000738 | 95.14 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.42 | gold quality |
| periodontal ligament | UBERON:0008266 | 94.07 | gold quality |
| oocyte | CL:0000023 | 93.61 | gold quality |
| visceral pleura | UBERON:0002401 | 93.16 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.88 | gold quality |
| pericardium | UBERON:0002407 | 92.78 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.08 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.75 | gold quality |
| lower lobe of lung | UBERON:0008949 | 91.73 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 91.50 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.46 | gold quality |
| spleen | UBERON:0002106 | 91.27 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.15 | gold quality |
| left ovary | UBERON:0002119 | 91.02 | gold quality |
| granulocyte | CL:0000094 | 90.92 | gold quality |
| pleura | UBERON:0000977 | 90.79 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 90.75 | gold quality |
| right ovary | UBERON:0002118 | 90.66 | gold quality |
| ovary | UBERON:0000992 | 90.59 | gold quality |
| bone marrow cell | CL:0002092 | 90.55 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.53 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 90.39 | gold quality |
| parietal pleura | UBERON:0002400 | 90.24 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 102.22 |
| E-ANND-3 | yes | 12.57 |
| E-MTAB-9067 | yes | 11.56 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting CHST15, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
Literature-anchored findings (GeneRIF, showing 8)
- Findings indicate that GalNAc4S-6ST mRNA expressed by astrocytic tumor cells is associated with poor patient prognosis. (PMID:23349846)
- The direct action of CHST15 on the proliferation. (PMID:26642349)
- blockade CHST15 represses colonic fibrosis (PMID:27410685)
- The expression of HOTAIR closely correlated with the level of CHST15 protein. (PMID:30963568)
- Results showed that CHST15 is highly expressed in esophageal squamous cell carcinoma (ESCC) TE1 cell line and tissues. Its knockdown inhibited TE1 cell growth and proliferation, but induced cell apoptosis. These findings indicate that CHST15 may play an essential role in mediating the tumorigenicity of ESCC cells. (PMID:31746400)
- circCHST15 is a novel prognostic biomarker that promotes clear cell renal cell carcinoma cell proliferation and metastasis through the miR-125a-5p/EIF4EBP1 axis. (PMID:34922539)
- CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk. (PMID:35798703)
- Association of genetic variants of CircCHST15 with oral squamous cell carcinoma in the Chinese Han population. (PMID:36608057)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chst15 | ENSDARG00000074527 |
| mus_musculus | Chst15 | ENSMUSG00000030930 |
| rattus_norvegicus | Chst15 | ENSRNOG00000016267 |
Protein
Protein identifiers
Carbohydrate sulfotransferase 15 — Q7LFX5 (reviewed: Q7LFX5)
Alternative names: B-cell RAG-associated gene protein, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase
All UniProt accessions (2): Q7LFX5, A0A0D9SFZ3
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase that transfers sulfate from 3’-phosphoadenosine 5’-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non-reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B-cell receptor involved in BCR ligation-mediated early activation that mediate regulatory signals key to B-cell development and/or regulation of B-cell-specific RAG expression; however such results are unclear in vivo.
Subunit / interactions. Homodimer; disulfide-linked (Potential). The relevance of homodimerization is however unsure. May interact with phosphorylated proteins in resting B-cells, including HCK.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in B-cell-enriched tissues but not in fetal or adult thymus. Expressed in fetal and adult spleen, lymph node, tonsil, bone marrow and peripheral leukocytes. Not expressed in T-cells. In pro-B, pre-B, and mature B-cell lines, it colocalizes with RAG1.
Post-translational modifications. Glycosylated.
Activity regulation. Inhibited by phenyl beta-GalNAc(4,6-SO(4)).
Similarity. Belongs to the sulfotransferase 1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7LFX5-1 | 1 | yes |
| Q7LFX5-2 | 2 |
RefSeq proteins (4): NP_001257693, NP_001257694, NP_055678, NP_056976 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR052654 | CS_Sulfotransferase | Family |
Pfam: PF00685
Enzyme classification (BRENDA):
- EC 2.8.2.33 — N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase (BRENDA: 4 organisms, 36 substrates, 18 inhibitors, 8 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENYLYL SULFATE | 0.0005 | 1 |
| CHONDROITIN 4-SULFATE | 0.027 | 1 |
| CHONDROITIN SULFATE A | 0.0011 | 1 |
| DERMATAN SULFATE | 0.0013 | 1 |
| GALNAC(4SO4)-D-GLUCURONIC ACID-GALNAC(4SO4) | 0.028 | 1 |
| GALNAC(4SO4)-D-GLUCURONIC ACID-GALNAC(6SO4) | 0.82 | 1 |
| GALNAC(4SO4)-GLC(2SO4)-GALNAC(6SO4) | 0.013 | 1 |
| UDP-GALNAC 4-SULFATE | 0.0038 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- chondroitin 4’-sulfate + n 3’-phosphoadenylyl sulfate = chondroitin 4’,6’-bissulfate + n adenosine 3’,5’-bisphosphate + n H(+) (RHEA:54300)
- dermatan 4’-sulfate + n 3’-phosphoadenylyl sulfate = dermatan 4’,6’-bissulfate + n adenosine 3’,5’-bisphosphate + n H(+) (RHEA:54304)
UniProt features (9 total): binding site 3, topological domain 2, chain 1, transmembrane region 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7LFX5-F1 | 80.20 | 0.66 |
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 (3): 263–267; 392; 400
Glycosylation sites (1): 364
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: 323 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, MCLACHLAN_DENTAL_CARIES_UP, MODULE_45, GOZGIT_ESR1_TARGETS_DN, BOYLAN_MULTIPLE_MYELOMA_D_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MODULE_66, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, MODULE_118, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, CEBP_Q2, GNF2_MCL1, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, ROZANOV_MMP14_TARGETS_UP, GOBP_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS
GO Biological Process (3): hexose biosynthetic process (GO:0019319), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), dermatan sulfate proteoglycan biosynthetic process (GO:0050651)
GO Molecular Function (5): 3’-phosphoadenosine 5’-phosphosulfate binding (GO:0050656), N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659), protein binding (GO:0005515), sulfotransferase activity (GO:0008146), 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 |
| hexose metabolic process | 1 |
| monosaccharide biosynthetic process | 1 |
| chondroitin sulfate proteoglycan metabolic process | 1 |
| dermatan sulfate proteoglycan metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| anion binding | 1 |
| sulfur compound binding | 1 |
| sulfotransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring sulphur-containing groups | 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
842 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHST15 | PIP5K1C | O60331 | 830 |
| CHST15 | CHST13 | Q8NET6 | 780 |
| CHST15 | CHST7 | Q9NS84 | 764 |
| CHST15 | CHST12 | Q9NRB3 | 756 |
| CHST15 | CHST14 | Q8NCH0 | 737 |
| CHST15 | CHST3 | Q7LGC8 | 731 |
| CHST15 | CHST11 | Q9NPF2 | 729 |
| CHST15 | HS2ST1 | Q7LGA3 | 666 |
| CHST15 | CSGALNACT2 | Q8N6G5 | 666 |
| CHST15 | CSGALNACT1 | Q8TDX6 | 660 |
| CHST15 | CHPF | Q8IZ52 | 605 |
| CHST15 | RAG1 | P15918 | 599 |
| CHST15 | DSEL | Q8IZU8 | 588 |
| CHST15 | PSD | A5PKW4 | 582 |
| CHST15 | DSE | Q9UL01 | 581 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHST15 | CANX | psi-mi:“MI:0915”(physical association) | 0.670 |
| CHST15 | CANX | psi-mi:“MI:0914”(association) | 0.670 |
| MEOX2 | CHST15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MORN5 | BCAT1 | psi-mi:“MI:0914”(association) | 0.530 |
| PIN4 | CHST15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NLRP12 | CHST15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHST15 | SLC43A3 | psi-mi:“MI:0914”(association) | 0.350 |
| CHST15 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): CANX (Affinity Capture-MS), CCNB1 (Affinity Capture-MS), EIF5A (Affinity Capture-MS), HIVEP1 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), CEPT1 (Affinity Capture-MS), FARS2 (Affinity Capture-MS), CASC3 (Affinity Capture-MS), ERC1 (Affinity Capture-MS), KLHDC2 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), RABL6 (Affinity Capture-MS), PLEKHG1 (Affinity Capture-MS), SLC25A19 (Affinity Capture-MS), SLC35E1 (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: Q7LFX5, Q8CHI9, Q8WTN9, Q91XQ5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 2 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2653 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:124012329:ATAC:A | donor_gain | 1.0000 |
| 10:124012372:TG:T | donor_gain | 1.0000 |
| 10:124012478:CAC:C | acceptor_gain | 1.0000 |
| 10:124021254:A:AC | donor_gain | 1.0000 |
| 10:124021255:C:CC | donor_gain | 1.0000 |
| 10:124021255:CAGG:C | donor_gain | 1.0000 |
| 10:124021409:CAAC:C | acceptor_gain | 1.0000 |
| 10:124021412:CCTG:C | acceptor_loss | 1.0000 |
| 10:124021413:CT:C | acceptor_loss | 1.0000 |
| 10:124038510:CTCA:C | donor_loss | 1.0000 |
| 10:124038511:TCA:T | donor_loss | 1.0000 |
| 10:124038512:CA:C | donor_loss | 1.0000 |
| 10:124038513:A:AC | donor_gain | 1.0000 |
| 10:124038513:A:T | donor_loss | 1.0000 |
| 10:124038514:C:CA | donor_loss | 1.0000 |
| 10:124038514:C:CC | donor_gain | 1.0000 |
| 10:124038514:CCT:C | donor_gain | 1.0000 |
| 10:124038667:CTCCC:C | acceptor_gain | 1.0000 |
| 10:124038668:TCCC:T | acceptor_gain | 1.0000 |
| 10:124038669:CCC:C | acceptor_gain | 1.0000 |
| 10:124038669:CCCC:C | acceptor_gain | 1.0000 |
| 10:124038670:CC:C | acceptor_gain | 1.0000 |
| 10:124038670:CCC:C | acceptor_gain | 1.0000 |
| 10:124038671:CC:C | acceptor_gain | 1.0000 |
| 10:124038671:CCT:C | acceptor_loss | 1.0000 |
| 10:124038672:C:A | acceptor_loss | 1.0000 |
| 10:124038672:C:CC | acceptor_gain | 1.0000 |
| 10:124042295:CCTTA:C | donor_loss | 1.0000 |
| 10:124042296:CTTA:C | donor_loss | 1.0000 |
| 10:124042297:TTA:T | donor_loss | 1.0000 |
AlphaMissense
3759 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:124021388:A:C | F405L | 1.000 |
| 10:124021388:A:T | F405L | 1.000 |
| 10:124021390:A:G | F405L | 1.000 |
| 10:124038530:C:A | R392M | 1.000 |
| 10:124038530:C:G | R392T | 1.000 |
| 10:124038648:A:G | W353R | 1.000 |
| 10:124038648:A:T | W353R | 1.000 |
| 10:124038661:A:C | S348R | 1.000 |
| 10:124038661:A:T | S348R | 1.000 |
| 10:124038663:T:G | S348R | 1.000 |
| 10:124044598:A:G | W290R | 1.000 |
| 10:124044598:A:T | W290R | 1.000 |
| 10:124044601:A:G | W289R | 1.000 |
| 10:124044601:A:T | W289R | 1.000 |
| 10:124044611:C:A | K285N | 1.000 |
| 10:124044611:C:G | K285N | 1.000 |
| 10:124044666:G:A | T267I | 1.000 |
| 10:124044672:C:T | G265E | 1.000 |
| 10:124044674:G:C | C264W | 1.000 |
| 10:124044677:C:A | K263N | 1.000 |
| 10:124044677:C:G | K263N | 1.000 |
| 10:124012438:A:G | W464R | 0.999 |
| 10:124012438:A:T | W464R | 0.999 |
| 10:124021359:A:G | F415S | 0.999 |
| 10:124021389:A:C | F405C | 0.999 |
| 10:124021393:A:C | Y404D | 0.999 |
| 10:124021395:A:G | L403P | 0.999 |
| 10:124021401:T:A | D401V | 0.999 |
| 10:124021405:A:G | S400P | 0.999 |
| 10:124021412:C:A | R397S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003168 (10:124085652 G>A,C), RS1000046760 (10:124013402 G>T), RS1000072657 (10:124050869 C>G), RS1000103768 (10:124056766 C>G), RS1000113684 (10:124018599 C>T), RS1000155481 (10:124044432 G>A), RS1000165316 (10:124088427 G>A), RS1000185688 (10:124028880 A>C), RS1000188212 (10:124039885 T>C,G), RS1000190664 (10:124007929 C>A,T), RS1000245395 (10:124013680 C>T), RS1000264181 (10:124034005 T>C), RS1000269131 (10:124050763 G>A), RS1000346478 (10:124023384 C>CT), RS1000353193 (10:124062439 T>G)
Disease associations
OMIM: gene MIM:608277 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_93 | Daytime sleep phenotypes | 3.000000e-08 |
| GCST006585_2696 | Blood protein levels | 1.000000e-06 |
| GCST006585_2697 | Blood protein levels | 8.000000e-06 |
| GCST007327_191 | Smoking status (ever vs never smokers) | 1.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0004318 | smoking behavior |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 8 |
| Benzo(a)pyrene | increases expression, affects expression, affects methylation, decreases expression | 6 |
| Tretinoin | decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases methylation | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | increases methylation | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases 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 | affects cotreatment, increases expression | 1 |
| belinostat | increases expression | 1 |
| ICG 001 | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1SQ | HyCyte PANC-1 KO-hCHST15 | Cancer cell line | Male |
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.