NDST2
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Also known as NST2HSST2
Summary
NDST2 (N-deacetylase and N-sulfotransferase 2, HGNC:7681) is a protein-coding gene on chromosome 10q22.2, encoding Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 (P52849). 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 N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi.
Source: NCBI Gene 8509 — RefSeq curated summary.
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 155 total
- MANE Select transcript:
NM_003635
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7681 |
| Approved symbol | NDST2 |
| Name | N-deacetylase and N-sulfotransferase 2 |
| Location | 10q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NST2, HSST2 |
| Ensembl gene | ENSG00000166507 |
| Ensembl biotype | protein_coding |
| OMIM | 603268 |
| Entrez | 8509 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 18 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000299641, ENST00000309979, ENST00000398701, ENST00000429742, ENST00000463410, ENST00000465929, ENST00000852703, ENST00000852704, ENST00000852705, ENST00000852706, ENST00000852707, ENST00000852708, ENST00000852709, ENST00000852710, ENST00000852711, ENST00000852712, ENST00000925465, ENST00000925466, ENST00000925467, ENST00000942041, ENST00000942042
RefSeq mRNA: 2 — MANE Select: NM_003635
NM_001330107, NM_003635
CCDS: CCDS7335
Canonical transcript exons
ENST00000309979 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001183921 | 73811474 | 73811598 |
| ENSE00001183932 | 73802972 | 73803081 |
| ENSE00003484545 | 73802674 | 73802776 |
| ENSE00003703540 | 73804773 | 73804869 |
| ENSE00003703594 | 73803189 | 73803359 |
| ENSE00003704750 | 73806657 | 73806811 |
| ENSE00003704863 | 73805900 | 73806028 |
| ENSE00003706604 | 73807108 | 73807195 |
| ENSE00003707121 | 73806289 | 73806474 |
| ENSE00003708083 | 73805587 | 73805769 |
| ENSE00003708643 | 73803574 | 73803748 |
| ENSE00003709297 | 73810799 | 73810903 |
| ENSE00003709588 | 73807384 | 73808729 |
| ENSE00003710586 | 73803893 | 73804016 |
| ENSE00003894578 | 73801916 | 73802576 |
Expression profiles
Bgee: expression breadth ubiquitous, 141 present calls, max score 95.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2919 / max 741.1525, expressed in 1803 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 110116 | 8.5179 | 1756 |
| 110117 | 6.4825 | 1631 |
| 110115 | 0.7806 | 23 |
| 110113 | 0.5307 | 63 |
| 110114 | 0.3343 | 15 |
| 110118 | 0.2998 | 114 |
| 110111 | 0.2207 | 51 |
| 110112 | 0.1131 | 33 |
| 110110 | 0.0123 | 7 |
Top tissues by expression
141 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| spleen | UBERON:0002106 | 95.74 | gold quality |
| granulocyte | CL:0000094 | 95.20 | gold quality |
| blood | UBERON:0000178 | 93.49 | gold quality |
| bone marrow | UBERON:0002371 | 93.39 | gold quality |
| bone element | UBERON:0001474 | 93.38 | gold quality |
| tonsil | UBERON:0002372 | 93.10 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.69 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.65 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.52 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.39 | gold quality |
| sural nerve | UBERON:0015488 | 92.33 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.32 | gold quality |
| lymph node | UBERON:0000029 | 92.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.24 | gold quality |
| monocyte | CL:0000576 | 92.15 | gold quality |
| pituitary gland | UBERON:0000007 | 92.13 | gold quality |
| leukocyte | CL:0000738 | 92.11 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.02 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.95 | gold quality |
| bone marrow cell | CL:0002092 | 91.94 | gold quality |
| skin of leg | UBERON:0001511 | 91.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.93 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.88 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.88 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.85 | gold quality |
| cerebellum | UBERON:0002037 | 91.84 | gold quality |
| lower esophagus | UBERON:0013473 | 91.84 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.82 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.78 | gold quality |
| right lung | UBERON:0002167 | 91.77 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.69 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MITF
miRNA regulators (miRDB)
43 targeting NDST2, 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-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-133A-5P | 99.28 | 69.13 | 941 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4646-3P | 98.65 | 66.98 | 693 |
| HSA-MIR-6873-5P | 98.45 | 66.14 | 1417 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndst2b | ENSDARG00000060678 |
| danio_rerio | ndst2a | ENSDARG00000086269 |
| mus_musculus | Ndst2 | ENSMUSG00000039308 |
| rattus_norvegicus | Ndst2 | ENSRNOG00000057755 |
Paralogs (10): HS3ST1 (ENSG00000002587), NDST1 (ENSG00000070614), HS3ST2 (ENSG00000122254), HS3ST3B1 (ENSG00000125430), NDST4 (ENSG00000138653), HS3ST3A1 (ENSG00000153976), HS3ST6 (ENSG00000162040), NDST3 (ENSG00000164100), HS3ST4 (ENSG00000182601), HS3ST5 (ENSG00000249853)
Protein
Protein identifiers
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 — P52849 (reviewed: P52849)
Alternative names: Glucosaminyl N-deacetylase/N-sulfotransferase 2, N-heparan sulfate sulfotransferase 2
All UniProt accessions (2): P52849, H7C032
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. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan.
Subunit / interactions. Monomer.
Subcellular location. Golgi apparatus membrane.
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 (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P52849-1 | 1 | yes |
| P52849-2 | 2 |
RefSeq proteins (2): NP_001317036, NP_003626* (*=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 (21 total): glycosylation site 6, binding site 3, region of interest 3, topological domain 2, splice variant 2, chain 1, disulfide bond 1, transmembrane region 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P52849-F1 | 91.20 | 0.81 |
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): 613 (for sulfotransferase activity)
Ligand- & substrate-binding residues (3): 711; 832–836; 613–617
Disulfide bonds (1): 817–827
Glycosylation sites (6): 233, 350, 400, 666, 726, 802
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: 203 (showing top):
MYAATNNNNNNNGGC_UNKNOWN, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_CIRCULATORY_RENIN_ANGIOTENSIN, HNF3ALPHA_Q6, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, CMYB_01, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_REGULATION_OF_HORMONE_LEVELS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, AP4_Q6, CAGCTG_AP4_Q5, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, COUP_01, MARTINEZ_RB1_TARGETS_DN
GO Biological Process (4): regulation of angiotensin levels in blood (GO:0002002), mast cell mediated immunity (GO:0002448), heparan sulfate proteoglycan biosynthetic process (GO:0015012), heparin proteoglycan biosynthetic process (GO:0030210)
GO Molecular Function (8): heparan sulfate N-sulfotransferase activity (GO:0015016), deacetylase activity (GO:0019213), N-acetylglucosamine deacetylase activity (GO:0050119), 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 |
| deacetylase activity | 2 |
| catalytic activity | 2 |
| regulation of systemic arterial blood pressure by circulatory renin-angiotensin | 1 |
| regulation of hormone levels | 1 |
| myeloid leukocyte mediated immunity | 1 |
| proteoglycan biosynthetic process | 1 |
| heparan sulfate proteoglycan metabolic process | 1 |
| heparin proteoglycan metabolic process | 1 |
| heparan sulfate sulfotransferase activity | 1 |
| deacylase activity | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | 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
672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDST2 | CPA3 | P15088 | 897 |
| NDST2 | SULT1C3 | Q6IMI6 | 821 |
| NDST2 | SULT1C4 | O75897 | 815 |
| NDST2 | SULT1B1 | O43704 | 815 |
| NDST2 | HS2ST1 | Q7LGA3 | 803 |
| NDST2 | PCDH15 | Q96QU1 | 767 |
| NDST2 | EXT1 | Q16394 | 747 |
| NDST2 | EXT2 | Q93063 | 742 |
| NDST2 | HS6ST1 | O60243 | 733 |
| NDST2 | GLCE | O94923 | 691 |
| NDST2 | HS6ST2 | Q96MM7 | 670 |
| NDST2 | UST | Q9Y2C2 | 669 |
| NDST2 | HS6ST3 | Q8IZP7 | 627 |
| NDST2 | EXTL3 | O43909 | 612 |
| NDST2 | K7EP71 | K7EP71 | 610 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA21 | IFIT3 | psi-mi:“MI:0914”(association) | 0.530 |
| SDF4 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.530 |
| IGFBP1 | SUSD5 | psi-mi:“MI:0914”(association) | 0.530 |
| LACRT | PLXNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| PLAUR | XRCC3 | psi-mi:“MI:0914”(association) | 0.530 |
| SCGB2A2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PLAUR | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| ST8SIA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTCH1 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| SIAE | COCH | 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 |
| SCGB2A1 | RAP1BL | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| NDST2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| NDST2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| NDST2 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (47): NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS), NDST2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0D3QS98, A0A0D3QS99, C5H5C4, O70309, O97583, P05106, P17405, P18084, P18424, P50747, P52849, P52850, P58242, P61642, P70207, P80747, Q04519, Q0V8G3, Q0VBD0, Q0VD19, Q13219, Q5NDF2, Q5QQ51, Q5STE3, Q64687, Q6DFZ6, Q6KFX9, Q6MZW2, Q6P988, Q6PCX7, Q6UWX4, Q6YGZ1, Q6ZXD2, Q71RP1, Q7TQ33, Q812F8, Q8BJQ9, Q8C1F4, Q8N6G5, Q8R116
Diamond homologs: O14792, O35310, O95803, P52849, Q5GFD5, Q60V90, Q673U1, Q80W66, Q8BKN6, Q8BSL4, Q8IZT8, Q966W3, Q96QI5, Q9EQH7, Q9EQW8, Q9ESG5, Q9H3R1, Q9QZS6, Q9V3L1, Q9Y278, Q9Y661, Q9Y662, Q9Y663, O97583, P52848, P52850, Q02353, Q3UHN9, Q5U4X8, Q6GQK9, Q55GK8, Q91XQ5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
155 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 139 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2248 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:73802479:T:TA | donor_gain | 1.0000 |
| 10:73802572:CGGGA:C | acceptor_gain | 1.0000 |
| 10:73802577:C:CC | acceptor_gain | 1.0000 |
| 10:73802670:TTA:T | donor_loss | 1.0000 |
| 10:73802671:TA:T | donor_loss | 1.0000 |
| 10:73802672:A:AC | donor_gain | 1.0000 |
| 10:73802673:C:CC | donor_gain | 1.0000 |
| 10:73802775:ACCTG:A | acceptor_loss | 1.0000 |
| 10:73802776:CCTGC:C | acceptor_loss | 1.0000 |
| 10:73802796:CA:C | acceptor_gain | 1.0000 |
| 10:73803082:C:CC | acceptor_gain | 1.0000 |
| 10:73803355:TGATG:T | acceptor_gain | 1.0000 |
| 10:73803358:TG:T | acceptor_gain | 1.0000 |
| 10:73803359:GCTGA:G | acceptor_loss | 1.0000 |
| 10:73803360:C:CC | acceptor_gain | 1.0000 |
| 10:73803360:C:CG | acceptor_loss | 1.0000 |
| 10:73803561:G:C | donor_gain | 1.0000 |
| 10:73803588:AGGC:A | donor_gain | 1.0000 |
| 10:73803749:CTAGG:C | acceptor_loss | 1.0000 |
| 10:73803762:C:CT | acceptor_gain | 1.0000 |
| 10:73805895:CTTAC:C | donor_loss | 1.0000 |
| 10:73805898:A:AC | donor_gain | 1.0000 |
| 10:73805898:A:AG | donor_loss | 1.0000 |
| 10:73805898:AC:A | donor_loss | 1.0000 |
| 10:73805899:C:CC | donor_gain | 1.0000 |
| 10:73806024:AGCAC:A | acceptor_gain | 1.0000 |
| 10:73806025:GCAC:G | acceptor_gain | 1.0000 |
| 10:73806026:CAC:C | acceptor_gain | 1.0000 |
| 10:73806026:CACC:C | acceptor_gain | 1.0000 |
| 10:73806027:AC:A | acceptor_gain | 1.0000 |
AlphaMissense
5748 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:73805740:A:C | N531K | 1.000 |
| 10:73805740:A:T | N531K | 1.000 |
| 10:73805749:A:C | H528Q | 1.000 |
| 10:73805749:A:T | H528Q | 1.000 |
| 10:73805751:G:C | H528D | 1.000 |
| 10:73805755:C:A | M526I | 1.000 |
| 10:73805755:C:G | M526I | 1.000 |
| 10:73805755:C:T | M526I | 1.000 |
| 10:73805995:G:C | H490D | 1.000 |
| 10:73805999:G:C | F488L | 1.000 |
| 10:73805999:G:T | F488L | 1.000 |
| 10:73806000:A:C | F488C | 1.000 |
| 10:73806001:A:G | F488L | 1.000 |
| 10:73806001:A:T | F488I | 1.000 |
| 10:73806003:A:G | L487P | 1.000 |
| 10:73806008:A:C | C485W | 1.000 |
| 10:73806009:C:T | C485Y | 1.000 |
| 10:73806010:A:G | C485R | 1.000 |
| 10:73806355:G:C | S456R | 1.000 |
| 10:73806355:G:T | S456R | 1.000 |
| 10:73806357:T:G | S456R | 1.000 |
| 10:73806387:A:G | W446R | 1.000 |
| 10:73806387:A:T | W446R | 1.000 |
| 10:73806429:G:C | H432D | 1.000 |
| 10:73806434:G:T | P430H | 1.000 |
| 10:73806729:G:C | H392Q | 1.000 |
| 10:73806729:G:T | H392Q | 1.000 |
| 10:73806731:G:C | H392D | 1.000 |
| 10:73806752:A:G | W385R | 1.000 |
| 10:73806752:A:T | W385R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000058719 (10:73807520 T>C), RS1000396056 (10:73811563 G>A,C), RS1000428573 (10:73811762 C>G,T), RS1001016455 (10:73813271 C>T), RS1001090306 (10:73813006 G>A,C), RS1001550751 (10:73804328 C>T), RS1001636918 (10:73812079 T>G), RS1001997097 (10:73802838 C>T), RS1002063718 (10:73804651 T>A,G), RS1002333154 (10:73808988 T>C), RS1002436215 (10:73809369 C>A,G,T), RS1002475149 (10:73807555 C>A,T), RS1002609522 (10:73802195 T>A,C), RS1003035136 (10:73812982 G>A), RS1003546253 (10:73801594 A>T)
Disease associations
OMIM: gene MIM:603268 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (1): schizophrenia (MONDO:0005090)
Orphanet (1): Microphthalmia-anophthalmia-coloboma (Orphanet:98555)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004132_74 | Crohn’s disease | 2.000000e-09 |
| GCST007656_13 | Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | 2.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| methylmercuric chloride | decreases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Acetaminophen | affects expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Aspirin | increases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Sulindac | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Associated diseases: schizophrenia