CHST7
gene geneOn this page
Also known as C6ST-2C6ST2
Summary
CHST7 (carbohydrate sulfotransferase 7, HGNC:13817) is a protein-coding gene on chromosome Xp11.3, encoding Carbohydrate sulfotransferase 7 (Q9NS84). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues.
This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin.
Source: NCBI Gene 56548 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 64 total — 3 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_019886
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13817 |
| Approved symbol | CHST7 |
| Name | carbohydrate sulfotransferase 7 |
| Location | Xp11.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | C6ST-2, C6ST2 |
| Ensembl gene | ENSG00000147119 |
| Ensembl biotype | protein_coding |
| OMIM | 300375 |
| Entrez | 56548 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000276055, ENST00000868793, ENST00000868794, ENST00000925570
RefSeq mRNA: 1 — MANE Select: NM_019886
NM_019886
CCDS: CCDS14268
Canonical transcript exons
ENST00000276055 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000978810 | 46573765 | 46575423 |
| ENSE00001043206 | 46597760 | 46598496 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 91.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8768 / max 201.3321, expressed in 1590 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196127 | 5.7980 | 1447 |
| 196126 | 1.3463 | 800 |
| 196128 | 0.9486 | 463 |
| 196125 | 0.5839 | 339 |
| 196129 | 0.2000 | 94 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 91.25 | gold quality |
| left ovary | UBERON:0002119 | 88.82 | gold quality |
| right ovary | UBERON:0002118 | 87.40 | gold quality |
| right atrium auricular region | UBERON:0006631 | 83.99 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.06 | gold quality |
| heart left ventricle | UBERON:0002084 | 82.82 | gold quality |
| endocervix | UBERON:0000458 | 82.51 | gold quality |
| cardiac ventricle | UBERON:0002082 | 82.38 | gold quality |
| cardiac atrium | UBERON:0002081 | 81.79 | gold quality |
| ovary | UBERON:0000992 | 81.55 | gold quality |
| heart | UBERON:0000948 | 80.56 | gold quality |
| left coronary artery | UBERON:0001626 | 80.00 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 78.29 | gold quality |
| monocyte | CL:0000576 | 78.15 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.14 | gold quality |
| coronary artery | UBERON:0001621 | 78.08 | gold quality |
| leukocyte | CL:0000738 | 77.94 | gold quality |
| spleen | UBERON:0002106 | 77.78 | gold quality |
| mononuclear cell | CL:0000842 | 77.70 | gold quality |
| omental fat pad | UBERON:0010414 | 77.51 | gold quality |
| apex of heart | UBERON:0002098 | 77.46 | gold quality |
| peritoneum | UBERON:0002358 | 77.41 | gold quality |
| granulocyte | CL:0000094 | 77.06 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 77.04 | gold quality |
| blood | UBERON:0000178 | 76.60 | gold quality |
| right lobe of liver | UBERON:0001114 | 76.03 | gold quality |
| heart right ventricle | UBERON:0002080 | 75.29 | gold quality |
| adipose tissue | UBERON:0001013 | 74.97 | gold quality |
| ectocervix | UBERON:0012249 | 74.92 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.85 |
| E-GEOD-99795 | no | 9.49 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting CHST7, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| 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-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
Literature-anchored findings (GeneRIF, showing 2)
- CHST7 methylation in white blood cells is positively associated with CRC risk, especially in females, and may potentially serve as a blood-based predictive biomarker for CRC risk. (PMID:30815821)
- CHST7 Methylation Status Related to the Proliferation and Differentiation of Pituitary Adenomas. (PMID:35954244)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chst7 | ENSDARG00000044341 |
| mus_musculus | Chst7 | ENSMUSG00000037347 |
| rattus_norvegicus | Chst7 | ENSRNOG00000077798 |
| drosophila_melanogaster | CG9550 | FBGN0031826 |
| drosophila_melanogaster | CG31637 | FBGN0051637 |
Paralogs (6): CHST3 (ENSG00000122863), CHST5 (ENSG00000135702), CHST4 (ENSG00000140835), CHST2 (ENSG00000175040), CHST1 (ENSG00000175264), CHST6 (ENSG00000183196)
Protein
Protein identifiers
Carbohydrate sulfotransferase 7 — Q9NS84 (reviewed: Q9NS84)
Alternative names: Chondroitin 6-sulfotransferase 2, Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5, N-acetylglucosamine 6-O-sulfotransferase 4
All UniProt accessions (1): Q9NS84
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4GlcNAc. Catalyzes 6-O-sulfation of beta-benzyl GlcNAc but not alpha- or beta-benzyl GalNAc.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Widely expressed. Highly expressed in heart, spleen, liver and ovary. Expressed at lower level in brain, placenta, thyroid, spinal cord and peripheral blood leukocytes. Not expressed in adult skin.
Similarity. Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
RefSeq proteins (1): NP_063939* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR016469 | Carbohydrate_sulfotransferase | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR051135 | Gal/GlcNAc/GalNAc_ST | Family |
Pfam: PF00685
Enzyme classification (BRENDA):
- EC 2.8.2.17 — chondroitin 6-sulfotransferase (BRENDA: 7 organisms, 62 substrates, 14 inhibitors, 31 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENYLYL SULFATE | 0.0003–0.0042 | 6 |
| CHONDROITIN | 0.0008–0.15 | 6 |
| 3’-PHOSPHOADENYLYLSULFATE | 0.0001–0.0333 | 5 |
| CHONDROITIN 4-SULFATE | 0.0005–0.038 | 2 |
| KERATAN SULFATE | 0.0029–0.005 | 2 |
| DECASACCHARIDE | 0.9 | 1 |
| DESULFATED CHONDROITIN SULFATE | 1.8 | 1 |
| DODECASACCHARIDE | 0.48 | 1 |
| GLCUABETA(1->3)GALNAC(4S)BETA(1->4)GLCUABETA(1-> | 0.05 | 1 |
| HEXASACCHARIDE | 5 | 1 |
| N-ACETYLGALACTOSAMINE 4-SULFATE | 0.36 | 1 |
| NATIVE CHONDROITIN | 0.06 | 1 |
| OCTASACCHARIDE | 2.5 | 1 |
| UDP-N-ACETYLGALACTOSAMINE 4-SULFATE | 0.027 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- chondroitin beta-D-glucuronate + n 3’-phosphoadenylyl sulfate = chondroitin 6’-sulfate + n adenosine 3’,5’-bisphosphate + n H(+) (RHEA:11108)
UniProt features (16 total): glycosylation site 3, compositionally biased region 3, topological domain 2, binding site 2, region of interest 2, chain 1, modified residue 1, sequence conflict 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS84-F1 | 80.60 | 0.57 |
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): 278–286; 110–116
Post-translational modifications (1): 462
Glycosylation sites (3): 88, 186, 407
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022870 | CS-GAG biosynthesis |
MSigDB gene sets: 195 (showing top):
XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS, CEBP_Q2, CATTTCA_MIR203, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, CAIRO_HEPATOBLASTOMA_DN, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_METABOLIC_PROCESS, MORF_ETV3, POU3F2_02, MULLIGHAN_NPM1_SIGNATURE_3_DN, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS
GO Biological Process (5): polysaccharide metabolic process (GO:0005976), N-acetylglucosamine metabolic process (GO:0006044), sulfur compound metabolic process (GO:0006790), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), carbohydrate metabolic process (GO:0005975)
GO Molecular Function (4): N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517), chondroitin 6-sulfotransferase activity (GO:0008459), 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 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| carbohydrate metabolic process | 1 |
| macromolecule metabolic process | 1 |
| amino sugar metabolic process | 1 |
| metabolic process | 1 |
| proteoglycan biosynthetic process | 1 |
| chondroitin sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| primary metabolic process | 1 |
| sulfotransferase activity | 1 |
| chondroitin sulfotransferase activity | 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
556 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHST7 | KRABD4 | Q5JUW0 | 950 |
| CHST7 | ZNF674 | Q2M3X9 | 842 |
| CHST7 | SLC9A7 | Q96T83 | 838 |
| CHST7 | CHST13 | Q8NET6 | 811 |
| CHST7 | CHST12 | Q9NRB3 | 811 |
| CHST7 | CHST15 | Q7LFX5 | 764 |
| CHST7 | CSGALNACT2 | Q8N6G5 | 700 |
| CHST7 | CHST14 | Q8NCH0 | 698 |
| CHST7 | CSGALNACT1 | Q8TDX6 | 666 |
| CHST7 | CHST11 | Q9NPF2 | 666 |
| CHST7 | LACTBL1 | A8MY62 | 561 |
| CHST7 | CHPF | Q8IZ52 | 532 |
| CHST7 | CHSY1 | Q86X52 | 531 |
| CHST7 | GLCE | O94923 | 515 |
| CHST7 | B3GAT3 | O94766 | 476 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| PEX19 | FAM20B | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF4 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH23 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM74 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| CHST7 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| CEACAM8 | PRRT4 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| HFE | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| LCN6 | COCH | psi-mi:“MI:0914”(association) | 0.350 |
| XPR1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (32): CHST7 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), CHST7 (Affinity Capture-RNA), CHST7 (Reconstituted Complex), CHST7 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), POTEF (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), GOSR2 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), CST4 (Affinity Capture-MS)
ESM2 similar proteins: A2A9Q0, A5PKD8, A9JSM3, D4A2Q0, E7ERA6, F1SAM7, F2Z333, P0CG25, Q07303, Q0IIA6, Q1RMK9, Q24JP5, Q2MJR0, Q2WF71, Q3MIP1, Q3UV16, Q3ZCQ3, Q504Y2, Q5EBM0, Q5GH56, Q5GH64, Q5GH72, Q5RJI4, Q5SZI1, Q641Q3, Q6IEE6, Q6IQX7, Q6P6N5, Q6UKI2, Q6ZMC9, Q6ZVW7, Q86UD0, Q8IUW3, Q8IZ52, Q8K064, Q8N4K4, Q8NAC3, Q8NBR0, Q8NCL9, Q8NFR9
Diamond homologs: O43916, O88199, O93403, Q0VBN2, Q5RJQ0, Q6DBY9, Q6XQG8, Q7LGC8, Q80WV3, Q8IZU8, Q8NCG5, Q92179, Q9EP78, Q9EQC0, Q9GZS9, Q9GZX3, Q9NS84, Q9QUP4, Q9QZL2, Q9R1I1, Q9Y4C5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 45 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1175843 | GRCh37/hg19 Xp11.3-11.23(chrX:44879855-46541970)x1 | Pathogenic |
| 2685063 | GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0 | Pathogenic |
| 830980 | NC_000023.10:g.(?45605561)(46952346_?)del | Pathogenic |
| 183366 | NC_000023.10:g.(?43479884)(46741003_?)del | Likely pathogenic |
SpliceAI
238 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:46575422:GG:G | donor_gain | 0.9900 |
| X:46575422:GGGTA:G | donor_loss | 0.9900 |
| X:46575423:GG:G | donor_gain | 0.9900 |
| X:46575424:GT:G | donor_loss | 0.9900 |
| X:46575425:T:A | donor_loss | 0.9900 |
| X:46597754:TTCTA:T | acceptor_loss | 0.9900 |
| X:46597756:CTA:C | acceptor_loss | 0.9900 |
| X:46597757:TA:T | acceptor_loss | 0.9900 |
| X:46597759:GGTCA:G | acceptor_gain | 0.9900 |
| X:46575424:G:GG | donor_gain | 0.9800 |
| X:46595489:A:T | donor_gain | 0.9800 |
| X:46575348:G:T | donor_gain | 0.9700 |
| X:46597758:A:AG | acceptor_gain | 0.9700 |
| X:46597759:G:GG | acceptor_gain | 0.9700 |
| X:46575390:T:TA | donor_gain | 0.9600 |
| X:46575391:A:AA | donor_gain | 0.9600 |
| X:46595444:GGC:G | donor_gain | 0.9600 |
| X:46597759:GGTC:G | acceptor_gain | 0.9600 |
| X:46595437:TCA:T | donor_gain | 0.9400 |
| X:46592240:A:AG | acceptor_gain | 0.9300 |
| X:46595042:G:GG | donor_gain | 0.9200 |
| X:46575388:C:G | donor_gain | 0.9100 |
| X:46575413:C:T | donor_gain | 0.9000 |
| X:46575431:G:GA | donor_gain | 0.9000 |
| X:46575430:T:TA | donor_gain | 0.8600 |
| X:46597758:AGGT:A | acceptor_gain | 0.8600 |
| X:46591471:TTC:T | donor_gain | 0.8400 |
| X:46595443:T:TA | donor_gain | 0.8400 |
| X:46597759:GGT:G | acceptor_gain | 0.8400 |
| X:46576088:T:TA | donor_gain | 0.8100 |
AlphaMissense
3073 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:46574326:A:T | E132V | 1.000 |
| X:46574773:G:T | R281M | 1.000 |
| X:46574977:G:A | C349Y | 1.000 |
| X:46575190:T:G | F420C | 1.000 |
| X:46575233:G:C | W434C | 1.000 |
| X:46575233:G:T | W434C | 1.000 |
| X:46574259:T:A | W110R | 0.999 |
| X:46574259:T:C | W110R | 0.999 |
| X:46574261:G:C | W110C | 0.999 |
| X:46574261:G:T | W110C | 0.999 |
| X:46574262:C:A | R111S | 0.999 |
| X:46574266:C:T | T112I | 0.999 |
| X:46574278:T:C | F116S | 0.999 |
| X:46574278:T:G | F116C | 0.999 |
| X:46574327:G:C | E132D | 0.999 |
| X:46574327:G:T | E132D | 0.999 |
| X:46574329:C:A | P133H | 0.999 |
| X:46574336:G:C | W135C | 0.999 |
| X:46574336:G:T | W135C | 0.999 |
| X:46574343:T:A | W138R | 0.999 |
| X:46574343:T:C | W138R | 0.999 |
| X:46574345:G:C | W138C | 0.999 |
| X:46574345:G:T | W138C | 0.999 |
| X:46574525:C:A | N198K | 0.999 |
| X:46574525:C:G | N198K | 0.999 |
| X:46574536:G:A | C202Y | 0.999 |
| X:46574652:T:A | C241S | 0.999 |
| X:46574653:G:C | C241S | 0.999 |
| X:46574680:A:T | K250M | 0.999 |
| X:46574681:G:C | K250N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004642 (X:46582467 T>C), RS1000323288 (X:46574795 C>G), RS1000483927 (X:46585100 A>G), RS1000738310 (X:46590395 A>G), RS1001000422 (X:46596213 G>T), RS1001256104 (X:46591877 C>T), RS1001368558 (X:46576811 C>T), RS1001377482 (X:46588403 G>A), RS1001606376 (X:46598712 C>A), RS1002411568 (X:46590406 G>A), RS1002775031 (X:46579091 C>G), RS1002946033 (X:46589016 T>C), RS1002977366 (X:46589439 A>G), RS1003140372 (X:46575349 A>G), RS1003278435 (X:46586094 G>A)
Disease associations
OMIM: gene MIM:300375 | disease phenotypes: MIM:300867
GenCC curated gene-disease
Mondo (1): Kabuki syndrome 2 (MONDO:0010465)
Orphanet (1): Kabuki syndrome (Orphanet:2322)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | decreases expression, increases expression | 3 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 3 |
| Estradiol | decreases expression, affects cotreatment, increases expression | 2 |
| Progesterone | increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| 2-hydroxychavicol | increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| apple polyphenol extract | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Calcitriol | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Fluorouracil | affects response to substance | 1 |
| Formaldehyde | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Parathion | increases expression, affects cotreatment | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases expression, increases methylation | 1 |
| Okadaic Acid | increases 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): Kabuki syndrome 2