CHST4
gene geneOn this page
Also known as HEC-GLCNAC-6-STLSST
Summary
CHST4 (carbohydrate sulfotransferase 4, HGNC:1972) is a protein-coding gene on chromosome 16q22.2, encoding Carbohydrate sulfotransferase 4 (Q8NCG5). Sulfotransferase involved in SELL/L-selectin ligand biosynthesis pathway.
This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3’phosphoadenosine 5’phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5’ UTR results in multiple transcript variants that encode the same protein.
Source: NCBI Gene 10164 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 79 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001166395
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1972 |
| Approved symbol | CHST4 |
| Name | carbohydrate sulfotransferase 4 |
| Location | 16q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HEC-GLCNAC-6-ST, LSST |
| Ensembl gene | ENSG00000140835 |
| Ensembl biotype | protein_coding |
| Entrez | 10164 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000338482, ENST00000539698, ENST00000572693, ENST00000866592, ENST00000927526, ENST00000927527
RefSeq mRNA: 2 — MANE Select: NM_001166395
NM_001166395, NM_005769
CCDS: CCDS10902
Canonical transcript exons
ENST00000539698 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002270267 | 71526426 | 71526495 |
| ENSE00002635842 | 71536660 | 71538748 |
Expression profiles
Bgee: expression breadth broad, 94 present calls, max score 95.78.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2913 / max 55.5294, expressed in 76 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154920 | 0.1550 | 57 |
| 154917 | 0.0611 | 29 |
| 154918 | 0.0495 | 26 |
| 154919 | 0.0258 | 8 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gall bladder | UBERON:0002110 | 95.78 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.75 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.62 | gold quality |
| islet of Langerhans | UBERON:0000006 | 75.90 | gold quality |
| ileal mucosa | UBERON:0000331 | 74.49 | gold quality |
| pancreas | UBERON:0001264 | 73.21 | gold quality |
| body of pancreas | UBERON:0001150 | 72.19 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 71.22 | gold quality |
| bronchus | UBERON:0002185 | 70.12 | gold quality |
| secondary oocyte | CL:0000655 | 70.07 | gold quality |
| sperm | CL:0000019 | 69.92 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 69.65 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 69.48 | gold quality |
| male germ cell | CL:0000015 | 69.45 | gold quality |
| bronchial epithelial cell | CL:0002328 | 69.15 | gold quality |
| tibialis anterior | UBERON:0001385 | 68.74 | silver quality |
| oviduct epithelium | UBERON:0004804 | 68.47 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 68.40 | silver quality |
| right lobe of liver | UBERON:0001114 | 67.35 | gold quality |
| liver | UBERON:0002107 | 65.72 | gold quality |
| right uterine tube | UBERON:0001302 | 65.40 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 64.89 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 64.69 | silver quality |
| right adrenal gland | UBERON:0001233 | 64.29 | gold quality |
| fallopian tube | UBERON:0003889 | 63.73 | gold quality |
| left adrenal gland | UBERON:0001234 | 63.66 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 63.15 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 62.68 | silver quality |
| adrenal cortex | UBERON:0001235 | 61.89 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-130473 | yes | 1215.44 |
| E-MTAB-10553 | yes | 20.49 |
| E-HCAD-9 | yes | 8.61 |
| E-ANND-3 | no | 3.10 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3, SP1, TBX21
miRNA regulators (miRDB)
30 targeting CHST4, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-1264 | 99.25 | 66.81 | 1317 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-10A-5P | 98.89 | 69.85 | 712 |
| HSA-MIR-10B-5P | 98.89 | 69.86 | 711 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-3192-3P | 98.62 | 65.80 | 970 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-653-3P | 98.31 | 67.71 | 1542 |
| HSA-MIR-4305 | 97.94 | 68.63 | 533 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
| HSA-MIR-4475 | 97.36 | 66.95 | 761 |
| HSA-MIR-4661-3P | 96.81 | 66.02 | 342 |
| HSA-MIR-6806-5P | 96.37 | 68.74 | 587 |
Literature-anchored findings (GeneRIF, showing 6)
- Ectopic expression of a GlcNAc 6-O-sulfotransferase, GlcNAc6ST-2, in colonic mucinous adenocarcinoma (PMID:12107080)
- involved in enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate (PMID:12218059)
- GlcNAc6ST2 could therefore be a good serological marker for detecting early-stage uterine cervical and corpus cancers. (PMID:19156517)
- A method for O-GlcNAc detection using in vitro sulfation with two N-acetylglucosamine (GlcNAc)-specific sulfotransferases, carbohydrate sulfotransferase 2 and carbohydrate sulfotransferase 4. (PMID:24799377)
- Data suggest that GlcNAc6ST-2 (CHST4) is critical for biosynthesis of MECA-79 sulfated glycans in apical membranes of small-sized intrahepatic bile ducts and of cholangiolocellular carcinoma (CoCC) cells; MUC1 protein decorated with GlcNAc6ST-2-dependent MECA-79 sulfated glycans may serve as a useful CoCC marker. (PMID:27748735)
- mRNA transcript analyses on the genes involved in synthesizing GlcNAc-6-O-sulfated glycans in human colon cancer tissues indicated that GlcNAc6ST-2 (CHST4) is preferentially expressed in cancer cells … GlcNAc6ST-3 (CHST5) was only expressed in nonmalignant epithelial cells, whereas GlcNAc6ST-1 (CHST2) was expressed equally in both cancerous and nonmalignant epithelial cells. (PMID:30093410)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Chst4 | ENSMUSG00000035930 |
| rattus_norvegicus | Chst4 | ENSRNOG00000016953 |
| drosophila_melanogaster | CG9550 | FBGN0031826 |
| drosophila_melanogaster | CG31637 | FBGN0051637 |
Paralogs (6): CHST3 (ENSG00000122863), CHST5 (ENSG00000135702), CHST7 (ENSG00000147119), CHST2 (ENSG00000175040), CHST1 (ENSG00000175264), CHST6 (ENSG00000183196)
Protein
Protein identifiers
Carbohydrate sulfotransferase 4 — Q8NCG5 (reviewed: Q8NCG5)
Alternative names: Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3, High endothelial cells N-acetylglucosamine 6-O-sulfotransferase, L-selectin ligand sulfotransferase, N-acetylglucosamine 6-O-sulfotransferase 2
All UniProt accessions (1): Q8NCG5
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase involved in SELL/L-selectin ligand biosynthesis pathway. Catalyzes the transfer of the sulfate group from 3’-phospho-5’-adenylyl sulfate (PAPS) onto the hydroxyl group at C-6 position of the non-reducing N-acetylglucosamine (GlcNAc) residue within O-linked mucin-type glycans. Contributes to generate sialyl 6-sulfo Lewis X determinant (also known as MECA-79 epitope) for SELL recognition, a prerequisite for continuous lymphocyte homing into peripheral lymph nodes and antigen immune surveillance. Transfers the sulfate group primarily on core 2 GlcNAcbeta1-6(Galbeta1-3)GalNAcalphaSer/Thr and extended core 1 GlcNAcbeta1-3Galbeta1-3GalNAcalphaSer/Thr based O-linked glycans on CD34 and GLYCAM1 peripheral node addressins (PNAds) expressed on the lumenal side of high endothelial venules (HEVs). The recognition of PNAds by SELL initiates a multistep process comprising tethering and rolling of blood lymphocytes on HEVs against the blood flow, followed by chemokine signaling, integrin-mediated lymphocyte adhesion onto endothelial cells and lymphocyte transendothelial migration. Modulates rolling velocity and differential T and B lymphocyte recruitment into peripheral lymph nodes, with a major role in B lymphocyte homing. Might be redundant in sulfation of MADCAM1 and lymphocyte trafficking to mesenteric lymph nodes. Can also sulfonate core 3 GlcNAcbeta1-3GalNAc-R based glycans as well as GlcNAcbeta1-3Galbeta1-Glc, GlcNAcbeta1-6ManOMe and GlcNAcbeta1-2Man oligosaccharides, which might be ectopically expressed during tumorigenesis.
Subunit / interactions. Monomer.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Specifically expressed in HEV. Weakly expressed in spleen. Not expressed in other tissues. Expressed in colonic mucinous adenocarcinoma.
Induction. Upon cytokine activation, it is expressed at low level.
Pathway. Protein modification; carbohydrate sulfation.
Miscellaneous. May serve as an anti-inflammatory target.
Similarity. Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
RefSeq proteins (2): NP_001159867, NP_005760 (=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
Catalyzed reactions (Rhea), 4 shown:
- 3-O-{N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-[protein] + 3’-phosphoadenylyl sulfate = 3-O-{6-O-sulfo-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67856)
- 3-O-{N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + 3’-phosphoadenylyl sulfate = 3-O-{6-O-sulfo-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67860)
- a 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-[protein] + 3’-phosphoadenylyl sulfate = 3-O-{beta-D-galactosyl-(1->3)-[6-O-sulfo-N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67864)
- 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + 3’-phosphoadenylyl sulfate = 3-O-{beta-D-galactosyl-(1->3)-[6-O-sulfo-N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:67868)
UniProt features (11 total): glycosylation site 3, topological domain 2, binding site 2, chain 1, sequence conflict 1, transmembrane region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NCG5-F1 | 90.66 | 0.78 |
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): 51–57; 205–213
Glycosylation sites (3): 30, 308, 329
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-913709 | O-linked glycosylation of mucins |
MSigDB gene sets: 113 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, AP1_01, chr16q22, GOBP_INFLAMMATORY_RESPONSE, GOBP_SULFATION, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CELL_CELL_SIGNALING, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, AP1_Q4_01, GOCC_TRANS_GOLGI_NETWORK
GO Biological Process (10): carbohydrate metabolic process (GO:0005975), N-acetylglucosamine metabolic process (GO:0006044), protein sulfation (GO:0006477), sulfur compound metabolic process (GO:0006790), inflammatory response (GO:0006954), immune response (GO:0006955), cell adhesion (GO:0007155), cell-cell signaling (GO:0007267), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), positive regulation of leukocyte tethering or rolling (GO:1903238)
GO Molecular Function (3): N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740)
GO Cellular Component (4): Golgi membrane (GO:0000139), trans-Golgi network (GO:0005802), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| O-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| primary metabolic process | 1 |
| amino sugar metabolic process | 1 |
| protein modification process | 1 |
| sulfation | 1 |
| metabolic process | 1 |
| defense response | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cellular process | 1 |
| cell communication | 1 |
| signaling | 1 |
| protein O-linked glycosylation | 1 |
| leukocyte tethering or rolling | 1 |
| regulation of leukocyte tethering or rolling | 1 |
| positive regulation of leukocyte adhesion to vascular endothelial cell | 1 |
| sulfotransferase activity | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| Golgi apparatus subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
466 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHST4 | NTAN1 | Q96AB6 | 962 |
| CHST4 | SELL | P14151 | 721 |
| CHST4 | FUT7 | Q11130 | 678 |
| CHST4 | ST3GAL6 | Q9Y274 | 605 |
| CHST4 | GCNT1 | Q02742 | 586 |
| CHST4 | CD300LG | Q6UXG3 | 578 |
| CHST4 | B3GNT3 | Q9Y2A9 | 578 |
| CHST4 | MADCAM1 | Q13477 | 518 |
| CHST4 | HECA | Q9UBI9 | 505 |
| CHST4 | B3GNT6 | Q6ZMB0 | 479 |
| CHST4 | MIMS2 | Q96KR6 | 458 |
| CHST4 | EMCN | Q9ULC0 | 449 |
| CHST4 | LUM | P51884 | 445 |
| CHST4 | B3GNT2 | Q9NY97 | 437 |
| CHST4 | CHST13 | Q8NET6 | 432 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHST6 | CANX | psi-mi:“MI:0914”(association) | 0.530 |
| DCPS | CHST4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHST6 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): CHST4 (Affinity Capture-MS), CHST4 (Affinity Capture-MS), CHST4 (Affinity Capture-MS), CHST4 (Affinity Capture-MS), CHST4 (Cross-Linking-MS (XL-MS)), FAM91A1 (Cross-Linking-MS (XL-MS)), KIDINS220 (Cross-Linking-MS (XL-MS)), DCPS (Two-hybrid)
ESM2 similar proteins: A2VDP6, A4D0V7, B1WB06, F1N2K1, O43548, P06802, P15396, P22413, P50127, P79949, P97259, Q05004, Q08834, Q08BN9, Q09328, Q14C87, Q14DG7, Q2TU62, Q3L7M0, Q3U095, Q52KP5, Q5R748, Q5RCA5, Q5XI89, Q5ZLK4, Q6AX23, Q6DNG6, Q6UWF7, Q6ZXA0, Q76HP2, Q76HP3, Q86UX2, Q8BG22, Q8C7K6, Q8K1B9, Q8N323, Q8NCG5, Q8NHY0, Q8R4G6, Q8VI38
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
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1706519 | GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1 | Pathogenic |
SpliceAI
489 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:71525376:G:GT | donor_gain | 1.0000 |
| 16:71525376:G:T | donor_gain | 0.9900 |
| 16:71525386:C:G | donor_gain | 0.9900 |
| 16:71536655:TAAA:T | acceptor_loss | 0.9900 |
| 16:71536657:AAGG:A | acceptor_loss | 0.9900 |
| 16:71536658:A:C | acceptor_loss | 0.9900 |
| 16:71536659:G:A | acceptor_loss | 0.9900 |
| 16:71525382:GCAGC:G | donor_gain | 0.9700 |
| 16:71536644:T:TA | acceptor_loss | 0.9700 |
| 16:71525410:TGGGA:T | donor_gain | 0.9600 |
| 16:71536657:A:G | acceptor_gain | 0.9600 |
| 16:71536658:A:AG | acceptor_gain | 0.9600 |
| 16:71536659:G:GG | acceptor_gain | 0.9600 |
| 16:71525927:C:T | donor_gain | 0.9500 |
| 16:71536656:A:AG | acceptor_gain | 0.9300 |
| 16:71536375:T:G | donor_gain | 0.8900 |
| 16:71536754:T:G | acceptor_gain | 0.8800 |
| 16:71525377:A:T | donor_gain | 0.8700 |
| 16:71536374:GT:G | donor_gain | 0.8600 |
| 16:71536375:TT:T | donor_gain | 0.8600 |
| 16:71525883:GC:G | donor_gain | 0.8500 |
| 16:71536373:GGT:G | donor_gain | 0.8500 |
| 16:71525402:G:A | donor_gain | 0.8400 |
| 16:71525420:T:TG | donor_gain | 0.8400 |
| 16:71525414:A:T | donor_gain | 0.8300 |
| 16:71536344:G:GT | donor_gain | 0.8300 |
| 16:71536656:AAAG:A | acceptor_gain | 0.8300 |
| 16:71525401:G:A | donor_gain | 0.7900 |
| 16:71536659:GGT:G | acceptor_gain | 0.7900 |
| 16:71525397:G:A | donor_gain | 0.7800 |
AlphaMissense
2550 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:71537208:G:C | K177N | 0.994 |
| 16:71537208:G:T | K177N | 0.994 |
| 16:71537679:G:C | W334C | 0.993 |
| 16:71537679:G:T | W334C | 0.993 |
| 16:71536823:C:T | S49F | 0.990 |
| 16:71536895:A:T | E73V | 0.990 |
| 16:71536987:T:A | C104S | 0.990 |
| 16:71536988:G:C | C104S | 0.990 |
| 16:71537677:T:A | W334R | 0.990 |
| 16:71537677:T:C | W334R | 0.990 |
| 16:71536889:T:C | L71P | 0.989 |
| 16:71537179:T:A | C168S | 0.989 |
| 16:71537180:G:C | C168S | 0.989 |
| 16:71536832:G:C | R52P | 0.988 |
| 16:71537291:G:C | R205P | 0.988 |
| 16:71537294:A:G | D206G | 0.988 |
| 16:71536988:G:A | C104Y | 0.987 |
| 16:71536988:G:T | C104F | 0.987 |
| 16:71537062:A:C | S129R | 0.987 |
| 16:71537064:C:A | S129R | 0.987 |
| 16:71537064:C:G | S129R | 0.987 |
| 16:71537180:G:A | C168Y | 0.987 |
| 16:71537181:C:G | C168W | 0.987 |
| 16:71537294:A:C | D206A | 0.987 |
| 16:71537294:A:T | D206V | 0.987 |
| 16:71537318:G:C | R214P | 0.987 |
| 16:71537215:C:A | R180S | 0.986 |
| 16:71536823:C:A | S49Y | 0.985 |
| 16:71536831:C:A | R52S | 0.985 |
| 16:71536840:T:C | S55P | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000347043 (16:71536501 T>C), RS1000359803 (16:71530270 C>T), RS1000451048 (16:71535896 A>G), RS1000858628 (16:71525192 T>C), RS1000903728 (16:71531652 G>A,T), RS1000964757 (16:71524578 T>C), RS1001093906 (16:71524269 C>A,G,T), RS1001191405 (16:71529488 G>C), RS1001243750 (16:71529919 G>A,C,T), RS1001345250 (16:71536841 C>T), RS1002022117 (16:71534744 C>T), RS1002076165 (16:71534526 T>G), RS1002148760 (16:71535242 G>A), RS1002569708 (16:71538046 G>A), RS1002748787 (16:71531811 A>C,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
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: yes
ChEMBL targets (1): CHEMBL2239 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression, increases methylation | 2 |
| trichostatin A | increases expression | 1 |
| gallium arsenide | 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 | increases expression, affects cotreatment | 1 |
| erastin | increases expression, increases reaction | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Doxycycline | increases reaction, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Progesterone | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Particulate Matter | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL681180 | Binding | Inhibitory activity of compound was determined against human high endothelial cell (HEC) GlcNAc-6-ST sulfotransferase at 100 uM | Tyrosylprotein sulfotransferase inhibitors generated by combinatorial target-guided ligand assembly. — Bioorg Med Chem Lett |
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.