NDST3
gene geneOn this page
Also known as HSST3
Summary
NDST3 (N-deacetylase and N-sulfotransferase 3, HGNC:7682) is a protein-coding gene on chromosome 4q26, encoding Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 (O95803). Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate.
This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin.
Source: NCBI Gene 9348 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_004784
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7682 |
| Approved symbol | NDST3 |
| Name | N-deacetylase and N-sulfotransferase 3 |
| Location | 4q26 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSST3 |
| Ensembl gene | ENSG00000164100 |
| Ensembl biotype | protein_coding |
| OMIM | 603950 |
| Entrez | 9348 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000296499, ENST00000394488, ENST00000852871
RefSeq mRNA: 1 — MANE Select: NM_004784
NM_004784
CCDS: CCDS3708
Canonical transcript exons
ENST00000296499 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000996907 | 118143556 | 118143684 |
| ENSE00000996908 | 118138054 | 118138239 |
| ENSE00001161093 | 118114806 | 118114960 |
| ENSE00001201937 | 118105018 | 118105105 |
| ENSE00001201940 | 118034486 | 118034592 |
| ENSE00001201949 | 118053756 | 118054891 |
| ENSE00001634973 | 118255593 | 118258634 |
| ENSE00001675525 | 118237046 | 118237220 |
| ENSE00001709182 | 118253499 | 118253601 |
| ENSE00001801529 | 118240524 | 118240694 |
| ENSE00002457853 | 118233012 | 118233135 |
| ENSE00002485035 | 118226886 | 118226982 |
| ENSE00002502960 | 118242040 | 118242149 |
| ENSE00002513338 | 118224491 | 118224673 |
Expression profiles
Bgee: expression breadth ubiquitous, 116 present calls, max score 93.36.
FANTOM5 (CAGE): breadth broad, TPM avg 1.4069 / max 87.1802, expressed in 370 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 49417 | 0.4730 | 170 |
| 49419 | 0.2294 | 81 |
| 49415 | 0.2160 | 94 |
| 49416 | 0.2122 | 82 |
| 49418 | 0.1392 | 57 |
| 49414 | 0.0988 | 48 |
| 49413 | 0.0382 | 17 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 93.36 | gold quality |
| cerebellar cortex | UBERON:0002129 | 75.29 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 75.24 | gold quality |
| cortical plate | UBERON:0005343 | 74.87 | gold quality |
| cerebellum | UBERON:0002037 | 74.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 74.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 72.52 | gold quality |
| ganglionic eminence | UBERON:0004023 | 72.42 | gold quality |
| nucleus accumbens | UBERON:0001882 | 72.33 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 71.62 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 71.36 | gold quality |
| right frontal lobe | UBERON:0002810 | 70.39 | gold quality |
| frontal cortex | UBERON:0001870 | 70.32 | gold quality |
| cerebellar vermis | UBERON:0004720 | 70.01 | gold quality |
| neocortex | UBERON:0001950 | 69.75 | gold quality |
| caudate nucleus | UBERON:0001873 | 69.31 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 68.90 | gold quality |
| cingulate cortex | UBERON:0003027 | 68.84 | gold quality |
| putamen | UBERON:0001874 | 68.59 | gold quality |
| cerebral cortex | UBERON:0000956 | 67.71 | gold quality |
| telencephalon | UBERON:0001893 | 67.34 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 66.48 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 66.16 | gold quality |
| forebrain | UBERON:0001890 | 65.44 | gold quality |
| brain | UBERON:0000955 | 65.40 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 64.30 | gold quality |
| primary visual cortex | UBERON:0002436 | 64.19 | gold quality |
| ventricular zone | UBERON:0003053 | 63.79 | gold quality |
| tibial nerve | UBERON:0001323 | 63.29 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 102.01 |
| E-ANND-3 | yes | 4.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
207 targeting NDST3, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
Literature-anchored findings (GeneRIF, showing 7)
- A case-control study evaluating the entire genome for genes associated with the risk of schizophrenia and bipolar disorder demnstrated polymorphisms of NDST3 in case patients. (PMID:24253340)
- study provides evidence that the minor allele of rs11098403, an SNP near NDST3, is significantly associated with a reduced risk of schizophrenia in a Han Chinese population, further confirming the data obtained from Caucasians (PMID:25139529)
- A genome-wide association study provided suggestive evidence that the NDST3 variation predisposed patients to schizophrenia and bipolar disorder. (PMID:26731438)
- Study does not support that the NDST3 gene plays a major role in schizophrenia, bipolar disorder, and major depressive disorder in the Han Chinese population. (PMID:29140583)
- Hsa_circ_0001017 inhibits proliferation and metastasis via regulating the let-7g-3p/NDST3 axis in glioma. (PMID:34284545)
- NDST3 deacetylates alpha-tubulin and suppresses V-ATPase assembly and lysosomal acidification. (PMID:34435379)
- Genetic Variance in Heparan Sulfation Is Associated With Salt Sensitivity. (PMID:39247955)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-121b10.7 | ENSDARG00000059948 |
| danio_rerio | hs3st3b1a | ENSDARG00000099149 |
| mus_musculus | Ndst3 | ENSMUSG00000027977 |
| rattus_norvegicus | Ndst3 | ENSRNOG00000015781 |
| drosophila_melanogaster | sfl | FBGN0020251 |
| caenorhabditis_elegans | WBGENE00002028 |
Paralogs (10): HS3ST1 (ENSG00000002587), NDST1 (ENSG00000070614), HS3ST2 (ENSG00000122254), HS3ST3B1 (ENSG00000125430), NDST4 (ENSG00000138653), HS3ST3A1 (ENSG00000153976), HS3ST6 (ENSG00000162040), NDST2 (ENSG00000166507), HS3ST4 (ENSG00000182601), HS3ST5 (ENSG00000249853)
Protein
Protein identifiers
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 — O95803 (reviewed: O95803)
Alternative names: Glucosaminyl N-deacetylase/N-sulfotransferase 3, N-heparan sulfate sulfotransferase 3
All UniProt accessions (1): O95803
UniProt curated annotations — full annotation on UniProt →
Function. Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity.
Subunit / interactions. Monomer.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed in brain, kidney, liver, fetal and adult lung, adult pancreas, placenta, fetal spleen and fetal thymus. Not detected in adult/ fetal heart and skeletal muscle.
Pathway. Glycan metabolism; heparan sulfate biosynthesis. Glycan metabolism; heparin biosynthesis.
Miscellaneous. The presence of 4 different heparan sulfate N-deacetylase/N-sulfotransferase enzymes in mammals, as well as differences in their enzyme activity suggest that some initiate heparan sulfate modification/sulfation reactions, whereas other later on fill in or extend already modified heparan sulfate sequences.
Similarity. Belongs to the sulfotransferase 1 family. NDST subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95803-1 | 1 | yes |
| O95803-2 | 2 | |
| O95803-3 | 3 |
RefSeq proteins (1): NP_004775* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR021930 | Heparan_SO4_deacetylase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR037359 | NST/OST | Family |
| IPR056793 | HSNSD_N | Domain |
Pfam: PF00685, PF12062, PF25119
Enzyme classification (BRENDA):
- EC 2.8.2.8 — [heparan sulfate]-glucosamine N-sulfotransferase (BRENDA: 11 organisms, 86 substrates, 14 inhibitors, 13 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENYLYLSULFATE | 0.005–0.108 | 6 |
| N-DEACETYLASE K5-POLYSACCHARIDE | 0.0009–0.0224 | 3 |
| N,O-DESULFOHEPARAN SULFATE TETRASACCHARIDE | 2.5 | 1 |
| N-DESULFOHEPARAN SULFATE | 1.89 | 1 |
| N-DESULFOHEPARIN | 0.013 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- alpha-D-glucosaminyl-heparan sulfate + 3’-phosphoadenylyl sulfate = N-sulfo-alpha-D-glucosaminyl-heparan sulfate + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:21980)
UniProt features (24 total): glycosylation site 6, splice variant 5, binding site 3, topological domain 2, region of interest 2, chain 1, disulfide bond 1, transmembrane region 1, sequence variant 1, sequence conflict 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95803-F1 | 90.55 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 605 (for sulfotransferase activity)
Ligand- & substrate-binding residues (3): 605–609; 703; 824–828
Disulfide bonds (1): 809–819
Glycosylation sites (6): 146, 226, 342, 392, 658, 794
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022928 | HS-GAG biosynthesis |
| R-HSA-1430728 | Metabolism |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 141 (showing top):
ATACCTC_MIR202, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, BRN2_01, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, AACTTT_UNKNOWN, CREBP1_01, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOMF_HEPARAN_SULFATE_SULFOTRANSFERASE_ACTIVITY, E4BP4_01, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, GOMF_DEACETYLASE_ACTIVITY
GO Biological Process (2): heparan sulfate proteoglycan biosynthetic process (GO:0015012), heparin proteoglycan biosynthetic process (GO:0030210)
GO Molecular Function (7): heparan sulfate N-sulfotransferase activity (GO:0015016), deacetylase activity (GO:0019213), heparan sulfate N-deacetylase activity (GO:0102140), catalytic activity (GO:0003824), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740), hydrolase activity (GO:0016787)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Heparan sulfate/heparin (HS-GAG) metabolism | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Glycosaminoglycan metabolism | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein O-linked glycosylation via xylose | 2 |
| catalytic activity | 2 |
| proteoglycan biosynthetic process | 1 |
| heparan sulfate proteoglycan metabolic process | 1 |
| heparin proteoglycan metabolic process | 1 |
| heparan sulfate sulfotransferase activity | 1 |
| deacylase activity | 1 |
| deacetylase activity | 1 |
| carboxylic ester hydrolase activity | 1 |
| molecular_function | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
570 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDST3 | SULT1C3 | Q6IMI6 | 759 |
| NDST3 | SULT1C4 | O75897 | 756 |
| NDST3 | SULT1B1 | O43704 | 729 |
| NDST3 | HS2ST1 | Q7LGA3 | 711 |
| NDST3 | GLCE | O94923 | 650 |
| NDST3 | EXTL1 | Q92935 | 642 |
| NDST3 | HS6ST1 | O60243 | 636 |
| NDST3 | EXTL3 | O43909 | 591 |
| NDST3 | HS6ST2 | Q96MM7 | 571 |
| NDST3 | HS6ST3 | Q8IZP7 | 570 |
| NDST3 | EXT1 | Q16394 | 568 |
| NDST3 | EXT2 | Q93063 | 558 |
| NDST3 | K7EP71 | K7EP71 | 547 |
| NDST3 | EXTL2 | Q9UBQ6 | 544 |
| NDST3 | UST | Q9Y2C2 | 544 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDST2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| NDST3 | PYGB | psi-mi:“MI:0914”(association) | 0.350 |
| NDST3 | B3GAT3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): NDST3 (Affinity Capture-MS), NDST4 (Affinity Capture-MS), PYGB (Affinity Capture-MS), NDST3 (Affinity Capture-MS), KCTD13 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), TUBB2B (Affinity Capture-MS), B3GAT3 (Affinity Capture-MS), RTFDC1 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A1D5PUP4, A2AFS3, M0R7X9, O70472, O75882, O95803, P01134, P26012, P52799, P52848, P69849, Q02353, Q05204, Q0VCJ8, Q12841, Q13635, Q15155, Q3UHN9, Q3ZBS2, Q58D84, Q5EA46, Q5JPE7, Q5R9Y1, Q5U4X8, Q5VV63, Q5ZJB7, Q5ZMH6, Q61115, Q62356, Q62632, Q6A051, Q6GQK9, Q6GQT9, Q6P988, Q6UXG2, Q7Z5A7, Q86TD4, Q90693, Q91WE9, Q96CW9
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
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3214 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:118053755:GACT:G | acceptor_gain | 1.0000 |
| 4:118114802:A:AG | acceptor_gain | 1.0000 |
| 4:118114802:AAAG:A | acceptor_gain | 1.0000 |
| 4:118114956:CCTTA:C | donor_gain | 1.0000 |
| 4:118114957:CTTA:C | donor_gain | 1.0000 |
| 4:118114958:TTA:T | donor_gain | 1.0000 |
| 4:118114959:TA:T | donor_gain | 1.0000 |
| 4:118114959:TAG:T | donor_loss | 1.0000 |
| 4:118114960:AGTAA:A | donor_loss | 1.0000 |
| 4:118114961:G:A | donor_loss | 1.0000 |
| 4:118114961:G:GG | donor_gain | 1.0000 |
| 4:118114962:T:A | donor_loss | 1.0000 |
| 4:118114963:A:AT | donor_loss | 1.0000 |
| 4:118114964:AGTAA:A | donor_loss | 1.0000 |
| 4:118143551:TTCA:T | acceptor_loss | 1.0000 |
| 4:118143552:TCAG:T | acceptor_loss | 1.0000 |
| 4:118143553:CAG:C | acceptor_loss | 1.0000 |
| 4:118143554:A:AG | acceptor_gain | 1.0000 |
| 4:118143555:G:GG | acceptor_gain | 1.0000 |
| 4:118143555:G:GT | acceptor_loss | 1.0000 |
| 4:118143680:ACCCT:A | donor_gain | 1.0000 |
| 4:118143681:CCCT:C | donor_gain | 1.0000 |
| 4:118143682:CCT:C | donor_gain | 1.0000 |
| 4:118143682:CCTG:C | donor_loss | 1.0000 |
| 4:118143683:CT:C | donor_gain | 1.0000 |
| 4:118143685:G:GG | donor_gain | 1.0000 |
| 4:118143686:TAAG:T | donor_loss | 1.0000 |
| 4:118143687:AA:A | donor_loss | 1.0000 |
| 4:118224489:A:AG | acceptor_gain | 1.0000 |
| 4:118224490:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
5795 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:118054841:G:C | D311H | 1.000 |
| 4:118054842:A:C | D311A | 1.000 |
| 4:118054842:A:T | D311V | 1.000 |
| 4:118114886:C:G | H384D | 1.000 |
| 4:118114888:T:A | H384Q | 1.000 |
| 4:118114888:T:G | H384Q | 1.000 |
| 4:118138094:C:A | P422H | 1.000 |
| 4:118138096:C:G | H423D | 1.000 |
| 4:118138099:C:G | H424D | 1.000 |
| 4:118138101:T:A | H424Q | 1.000 |
| 4:118138101:T:G | H424Q | 1.000 |
| 4:118138141:T:A | W438R | 1.000 |
| 4:118138141:T:C | W438R | 1.000 |
| 4:118138171:A:C | S448R | 1.000 |
| 4:118138173:C:A | S448R | 1.000 |
| 4:118138173:C:G | S448R | 1.000 |
| 4:118143557:T:A | V471D | 1.000 |
| 4:118143566:G:C | R474T | 1.000 |
| 4:118143583:T:C | F480L | 1.000 |
| 4:118143585:C:A | F480L | 1.000 |
| 4:118143585:C:G | F480L | 1.000 |
| 4:118253570:A:T | K824I | 1.000 |
| 4:118253571:A:C | K824N | 1.000 |
| 4:118253571:A:T | K824N | 1.000 |
| 4:118053983:A:C | S25R | 0.999 |
| 4:118053985:C:A | S25R | 0.999 |
| 4:118053985:C:G | S25R | 0.999 |
| 4:118054838:G:C | D310H | 0.999 |
| 4:118054839:A:C | D310A | 0.999 |
| 4:118054839:A:T | D310V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000012600 (4:118073755 A>C), RS1000016608 (4:118200178 T>A), RS1000019507 (4:118102031 C>A,G,T), RS1000033086 (4:118061734 A>G), RS1000053498 (4:118201754 T>G), RS1000092522 (4:118119317 T>C), RS1000101895 (4:118161538 C>T), RS1000108517 (4:118201573 G>A), RS1000114086 (4:118170687 C>T), RS10001247 (4:118170438 A>G), RS1000133194 (4:118150998 C>A,T), RS10001520 (4:118140673 A>G), RS1000175081 (4:118254175 G>A), RS10001926 (4:118215739 A>T), RS1000204379 (4:118149319 A>G)
Disease associations
OMIM: gene MIM:603950 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002277_1 | Schizophrenia | 3.000000e-08 |
| GCST006218_54 | Erosive tooth wear (severe vs non-severe) | 3.000000e-08 |
| GCST006950_9 | Feeling worry | 4.000000e-08 |
| GCST007201_468 | Schizophrenia | 4.000000e-08 |
| GCST008395_4 | End-stage kidney disease | 9.000000e-07 |
| GCST009391_427 | Metabolite levels | 6.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009589 | worry measurement |
| EFO:0010384 | phosphatidylcholine 38:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, increases expression | 2 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| entinostat | decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Phthalic Acids | increases methylation | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Crocidolite | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | increases 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.