ISYNA1
gene geneOn this page
Also known as Ino1INOSIPS
Summary
ISYNA1 (inositol-3-phosphate synthase 1, HGNC:29821) is a protein-coding gene on chromosome 19p13.11, encoding Inositol-3-phosphate synthase 1 (Q9NPH2). Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner.
This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4.
Source: NCBI Gene 51477 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 93 total
- MANE Select transcript:
NM_016368
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29821 |
| Approved symbol | ISYNA1 |
| Name | inositol-3-phosphate synthase 1 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Ino1, INOS, IPS |
| Ensembl gene | ENSG00000105655 |
| Ensembl biotype | protein_coding |
| OMIM | 611670 |
| Entrez | 51477 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 25 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay
ENST00000338128, ENST00000457269, ENST00000577820, ENST00000577916, ENST00000578352, ENST00000578963, ENST00000581672, ENST00000581800, ENST00000582287, ENST00000582770, ENST00000582811, ENST00000583309, ENST00000583534, ENST00000583816, ENST00000885772, ENST00000885773, ENST00000885774, ENST00000885775, ENST00000885776, ENST00000885777, ENST00000915490, ENST00000915491, ENST00000915492, ENST00000915493, ENST00000915494, ENST00000915495, ENST00000915496, ENST00000915497, ENST00000915498, ENST00000915499, ENST00000970148, ENST00000970149
RefSeq mRNA: 3 — MANE Select: NM_016368
NM_001170938, NM_001253389, NM_016368
CCDS: CCDS12379, CCDS54234, CCDS62603
Canonical transcript exons
ENST00000338128 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002285239 | 18434388 | 18435117 |
| ENSE00002321292 | 18438093 | 18438133 |
| ENSE00003510249 | 18436973 | 18437105 |
| ENSE00003584572 | 18437860 | 18437988 |
| ENSE00003624446 | 18437599 | 18437760 |
| ENSE00003695506 | 18436032 | 18436247 |
| ENSE00003696504 | 18436684 | 18436877 |
| ENSE00003696571 | 18435266 | 18435483 |
| ENSE00003696941 | 18435563 | 18435676 |
| ENSE00003698429 | 18435757 | 18435921 |
| ENSE00003700558 | 18436330 | 18436479 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.4757 / max 454.2426, expressed in 1525 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180003 | 35.1594 | 1502 |
| 180004 | 3.9687 | 992 |
| 180002 | 0.2678 | 111 |
| 180005 | 0.0797 | 57 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 99.61 | gold quality |
| right uterine tube | UBERON:0001302 | 99.58 | gold quality |
| left testis | UBERON:0004533 | 99.56 | gold quality |
| testis | UBERON:0000473 | 98.28 | gold quality |
| right ovary | UBERON:0002118 | 97.81 | gold quality |
| left ovary | UBERON:0002119 | 97.78 | gold quality |
| left uterine tube | UBERON:0001303 | 97.35 | gold quality |
| ventricular zone | UBERON:0003053 | 97.14 | gold quality |
| right coronary artery | UBERON:0001625 | 97.01 | gold quality |
| apex of heart | UBERON:0002098 | 96.91 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.91 | gold quality |
| left coronary artery | UBERON:0001626 | 96.84 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.77 | gold quality |
| cortical plate | UBERON:0005343 | 96.57 | gold quality |
| coronary artery | UBERON:0001621 | 96.44 | gold quality |
| embryo | UBERON:0000922 | 96.35 | gold quality |
| endocervix | UBERON:0000458 | 96.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.97 | gold quality |
| pituitary gland | UBERON:0000007 | 95.59 | gold quality |
| body of uterus | UBERON:0009853 | 95.47 | gold quality |
| ectocervix | UBERON:0012249 | 95.12 | gold quality |
| ovary | UBERON:0000992 | 95.01 | gold quality |
| adult organism | UBERON:0007023 | 95.00 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.98 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.69 | gold quality |
| ascending aorta | UBERON:0001496 | 94.58 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.54 | gold quality |
| body of pancreas | UBERON:0001150 | 94.51 | gold quality |
| aorta | UBERON:0000947 | 94.29 | gold quality |
| tibial artery | UBERON:0007610 | 94.27 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 1281.38 |
| E-HCAD-10 | yes | 1170.70 |
| E-GEOD-134144 | yes | 32.31 |
| E-MTAB-9067 | yes | 22.29 |
| E-HCAD-11 | yes | 20.64 |
| E-ANND-3 | yes | 11.96 |
| E-CURD-112 | yes | 10.05 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1, E2F1, IER2, MYOG, SMARCA1, SNAI1, SSRP1, TBP
miRNA regulators (miRDB)
16 targeting ISYNA1, 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-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6861-3P | 99.60 | 68.46 | 444 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-3199 | 99.17 | 65.19 | 696 |
| HSA-MIR-8052 | 99.17 | 65.01 | 719 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-4646-3P | 98.65 | 66.98 | 693 |
| HSA-MIR-4433B-5P | 95.91 | 66.56 | 727 |
| HSA-MIR-6889-5P | 90.26 | 64.13 | 291 |
Literature-anchored findings (GeneRIF, showing 8)
- Upregulation occurs through the interaction of several low-affinity E2F binding motifs present in the minimal promoter. (PMID:15464731)
- MIP synthase expressed in developing fetal liver and shows optima pH between 7.0 and 7.5. (PMID:22707096)
- analysis of how myo-inositol-3-phosphate synthase is regulated by phosphorylation (PMID:23902760)
- Abnormal expression of ISYNA1 may play an important role in the progression of pancreatic ductal adenocarcinoma (PMID:30861650)
- The ISYNA1 was an important regulatory factors and related networks were involved in multiple functional processes. (PMID:31495492)
- Musashi2 promotes the progression of pancreatic cancer through a novel ISYNA1-p21/ZEB-1 pathway. (PMID:32779876)
- Cigarette smoke induces the ROS accumulation and iNOS activation through deactivation of Nrf-2/SIRT3 axis to mediate the human bronchial epithelium ferroptosis. (PMID:36871899)
- The myo-inositol biosynthesis rate-limiting enzyme ISYNA1 suppresses the stemness of ovarian cancer via Notch1 pathway. (PMID:37105506)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Isyna1 | ENSMUSG00000019139 |
| rattus_norvegicus | Isyna1 | ENSRNOG00000019741 |
| drosophila_melanogaster | Inos | FBGN0025885 |
| caenorhabditis_elegans | WBGENE00012148 |
Protein
Protein identifiers
Inositol-3-phosphate synthase 1 — Q9NPH2 (reviewed: Q9NPH2)
Alternative names: Myo-inositol 1-phosphate synthase, Myo-inositol 1-phosphate synthase A1
All UniProt accessions (8): Q9NPH2, A0A140VK73, J3KRH4, J3QKW9, J3QLD7, J3QRH1, J3QRY0, J3QS51
UniProt curated annotations — full annotation on UniProt →
Function. Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds.
Subcellular location. Cytoplasm.
Tissue specificity. Highly expressed in testis, ovary, heart, placenta and pancreas. Weakly expressed in blood leukocyte, thymus, skeletal muscle and colon.
Post-translational modifications. Phosphorylation at Ser-279 and Ser-357 may be associated with a decrease in activity.
Activity regulation. Inhibited by mood-stabilizing drugs such as valproate (VPA) and lithium.
Induction. By glucose and lovastain. Up-regulation is prevented by mevalonic acid, farnesol, and geranylgeraniol. Up-regulated by E2F1.
Pathway. Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 1/2.
Similarity. Belongs to the myo-inositol 1-phosphate synthase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NPH2-1 | 1 | yes |
| Q9NPH2-2 | 2 | |
| Q9NPH2-3 | 3 |
RefSeq proteins (3): NP_001164409, NP_001240318, NP_057452* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002587 | Myo-inos-1-P_Synthase | Family |
| IPR013021 | Myo-inos-1-P_Synthase_GAPDH | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
Pfam: PF01658, PF07994
Enzyme classification (BRENDA):
- EC 5.5.1.4 — inositol-3-phosphate synthase (BRENDA: 80 organisms, 52 substrates, 121 inhibitors, 63 Km, 7 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| D-GLUCOSE 6-PHOSPHATE | 0.12–76.34 | 31 |
| GLUCOSE 6-PHOSPHATE | 0.035–2.85 | 13 |
| NAD+ | 0.0051–1.95 | 13 |
| 2-DEOXY-D-GLUCOSE 6-PHOSPHATE | 1.15 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- D-glucose 6-phosphate = 1D-myo-inositol 3-phosphate (RHEA:10716)
UniProt features (46 total): binding site 25, sequence conflict 12, mutagenesis site 3, modified residue 2, splice variant 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NPH2-F1 | 92.23 | 0.88 |
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 (25): 191; 228; 229; 230; 231; 278; 279; 303; 306; 337; 67; 338 …
Post-translational modifications (2): 279, 357
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 177 | decreases activity. |
| 279 | decreases activity. |
| 357 | decreases activity. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1855183 | Synthesis of IP2, IP, and Ins in the cytosol |
| R-HSA-1430728 | Metabolism |
| R-HSA-1483249 | Inositol phosphate metabolism |
MSigDB gene sets: 192 (showing top):
GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, MODULE_255, GOBP_POLYOL_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_317, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, MCLACHLAN_DENTAL_CARIES_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, MORI_SMALL_PRE_BII_LYMPHOCYTE_DN, GOBP_INOSITOL_METABOLIC_PROCESS
GO Biological Process (3): inositol biosynthetic process (GO:0006021), phospholipid biosynthetic process (GO:0008654), lipid metabolic process (GO:0006629)
GO Molecular Function (3): inositol-3-phosphate synthase activity (GO:0004512), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Inositol phosphate metabolism | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| inositol metabolic process | 1 |
| polyol biosynthetic process | 1 |
| phospholipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| organophosphate biosynthetic process | 1 |
| primary metabolic process | 1 |
| intramolecular lyase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1782 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ISYNA1 | IMPA1 | P29218 | 743 |
| ISYNA1 | CDIPT | O14735 | 724 |
| ISYNA1 | GTF2B | Q00403 | 707 |
| ISYNA1 | MIOX | Q9UGB7 | 702 |
| ISYNA1 | IMPA2 | O14732 | 646 |
| ISYNA1 | KAT2A | Q92830 | 635 |
| ISYNA1 | SIK1 | P57059 | 598 |
| ISYNA1 | KAT2B | Q92831 | 589 |
| ISYNA1 | IP6K1 | Q92551 | 582 |
| ISYNA1 | INPP1 | P49441 | 575 |
| ISYNA1 | HK1 | P19367 | 569 |
| ISYNA1 | ATP1A1 | P05023 | 561 |
| ISYNA1 | ATP1A4 | Q13733 | 559 |
| ISYNA1 | IPMK | Q8NFU5 | 553 |
| ISYNA1 | CLC | Q05315 | 540 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAF4 | ISYNA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ISYNA1 | TRAF4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| USE1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| ISYNA1 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | ISYNA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POT1 | ISYNA1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| DUSP14 | ISYNA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSPA8 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| TEX101 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CSAG1 | NAP1L4 | psi-mi:“MI:0914”(association) | 0.350 |
| CSAG2 | CAMK2D | psi-mi:“MI:0914”(association) | 0.350 |
| MAP2K2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| IRAK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| MYLK | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| STK32C | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| ULK4 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
| NRBP2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6KL1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (83): ISYNA1 (Two-hybrid), ISYNA1 (Affinity Capture-MS), ISYNA1 (Affinity Capture-MS), ACAA2 (Co-fractionation), ALDOA (Co-fractionation), ARHGDIA (Co-fractionation), ECHS1 (Co-fractionation), ERN2 (Co-fractionation), HNRNPH2 (Co-fractionation), ISYNA1 (Co-fractionation), ISYNA1 (Co-fractionation), ISYNA1 (Co-fractionation), ISYNA1 (Co-fractionation), ISYNA1 (Co-fractionation), ISYNA1 (Co-fractionation)
ESM2 similar proteins: A0A0A2JW88, A0A2C9EVE6, A0A2K9M484, A2YH64, A8C7R6, B0RP37, B1MK49, F7J5X9, J9VYL3, M1WA44, O09345, O84716, P17598, P18123, P25890, P48351, P48352, P49315, P49316, P49317, P49319, P55037, P55038, P55305, P55307, P55311, P55313, P78574, Q01297, Q08262, Q0D9C4, Q21FJ6, Q4K423, Q4R6E3, Q4UYF2, Q5QQ46, Q6AYK3, Q6DAM0, Q6ZXC2, Q715L4
Diamond homologs: C0HM53, J9VYL3, O64437, O65195, O97477, P11986, P42800, P42801, P42802, P42803, Q2NL29, Q38862, Q40271, Q41107, Q4R6E3, Q54N49, Q5QQ46, Q6AYK3, Q6DDT1, Q6FQI1, Q7ZXY0, Q8A7J8, Q8I3Y8, Q8S5N2, Q96348, Q9FPK7, Q9FYV1, Q9JHU9, Q9LW96, Q9LX12, Q9NPH2, Q9S7U0, Q9SSV4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| E2F1 | “up-regulates quantity by expression” | ISYNA1 | “transcriptional regulation” |
| ISYNA1 | “up-regulates quantity” | “1D-myo-inositol 1-phosphate” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 6 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1479 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:18435211:G:C | donor_gain | 1.0000 |
| 19:18435215:AG:A | donor_gain | 1.0000 |
| 19:18435216:G:C | donor_gain | 1.0000 |
| 19:18435312:C:CT | donor_gain | 1.0000 |
| 19:18435313:C:CT | donor_gain | 1.0000 |
| 19:18435567:CA:C | donor_gain | 1.0000 |
| 19:18435756:CG:C | donor_gain | 1.0000 |
| 19:18435839:T:TA | donor_gain | 1.0000 |
| 19:18435917:ATGGT:A | acceptor_gain | 1.0000 |
| 19:18435918:TGGT:T | acceptor_gain | 1.0000 |
| 19:18435919:GGT:G | acceptor_gain | 1.0000 |
| 19:18435920:GT:G | acceptor_gain | 1.0000 |
| 19:18435921:TCTG:T | acceptor_loss | 1.0000 |
| 19:18435922:C:CC | acceptor_gain | 1.0000 |
| 19:18435922:C:CG | acceptor_loss | 1.0000 |
| 19:18435923:T:A | acceptor_loss | 1.0000 |
| 19:18436028:GCACC:G | donor_loss | 1.0000 |
| 19:18436029:CA:C | donor_loss | 1.0000 |
| 19:18436073:TG:T | donor_gain | 1.0000 |
| 19:18436243:CCGAG:C | acceptor_gain | 1.0000 |
| 19:18436244:CGAG:C | acceptor_gain | 1.0000 |
| 19:18436244:CGAGC:C | acceptor_gain | 1.0000 |
| 19:18436245:GAG:G | acceptor_gain | 1.0000 |
| 19:18436245:GAGC:G | acceptor_loss | 1.0000 |
| 19:18436246:AG:A | acceptor_gain | 1.0000 |
| 19:18436247:GCTG:G | acceptor_loss | 1.0000 |
| 19:18436248:C:CC | acceptor_gain | 1.0000 |
| 19:18436248:C:T | acceptor_loss | 1.0000 |
| 19:18436325:CCCA:C | donor_loss | 1.0000 |
| 19:18436326:CCA:C | donor_loss | 1.0000 |
AlphaMissense
3620 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:18435481:G:C | D419E | 0.999 |
| 19:18435481:G:T | D419E | 0.999 |
| 19:18435482:T:A | D419V | 0.999 |
| 19:18435482:T:G | D419A | 0.999 |
| 19:18435483:C:G | D419H | 0.999 |
| 19:18435638:C:A | K393N | 0.999 |
| 19:18435638:C:G | K393N | 0.999 |
| 19:18435343:C:A | K465N | 0.998 |
| 19:18435343:C:G | K465N | 0.998 |
| 19:18435482:T:C | D419G | 0.998 |
| 19:18435841:C:A | K352N | 0.998 |
| 19:18435841:C:G | K352N | 0.998 |
| 19:18435886:G:C | N337K | 0.998 |
| 19:18435886:G:T | N337K | 0.998 |
| 19:18435890:C:A | G336V | 0.998 |
| 19:18435898:G:C | N333K | 0.998 |
| 19:18435898:G:T | N333K | 0.998 |
| 19:18435904:A:C | S331R | 0.998 |
| 19:18435904:A:T | S331R | 0.998 |
| 19:18435906:T:G | S331R | 0.998 |
| 19:18436092:C:A | K305N | 0.998 |
| 19:18436092:C:G | K305N | 0.998 |
| 19:18436098:G:C | D303E | 0.998 |
| 19:18436098:G:T | D303E | 0.998 |
| 19:18436099:T:A | D303V | 0.998 |
| 19:18436099:T:G | D303A | 0.998 |
| 19:18436875:A:G | W140R | 0.998 |
| 19:18436875:A:T | W140R | 0.998 |
| 19:18436071:C:A | K312N | 0.997 |
| 19:18436071:C:G | K312N | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000104116 (19:18438462 T>TC), RS1000539586 (19:18438576 C>T), RS1001141260 (19:18437319 C>G,T), RS1001336449 (19:18439095 TG>T), RS1001719078 (19:18435826 G>T), RS1001880132 (19:18434001 C>A,G,T), RS1002340539 (19:18438127 A>G,T), RS1002787875 (19:18434452 C>G,T), RS1003125239 (19:18434621 G>A,C), RS1003258871 (19:18435019 G>A), RS1003959546 (19:18434105 T>C,G), RS1004385571 (19:18438387 T>TTACAAGAGG), RS1005037936 (19:18438642 G>A,T), RS1005090335 (19:18438355 C>A,T), RS1005648712 (19:18439340 G>A,C)
Disease associations
OMIM: gene MIM:611670 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001937_26 | Breast cancer | 5.000000e-15 |
| GCST006979_750 | Heel bone mineral density | 1.000000e-15 |
| GCST007511_22 | Alzheimer’s disease (late onset) | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:1001870 | late-onset Alzheimers disease |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
69 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 5 |
| Air Pollutants | affects expression, increases abundance, decreases expression, increases expression | 4 |
| Estradiol | affects expression, affects cotreatment, decreases expression | 4 |
| Aflatoxin B1 | affects expression, decreases methylation, increases expression | 4 |
| sodium arsenite | affects binding, increases reaction, affects cotreatment, decreases expression, increases abundance (+1 more) | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| bisphenol S | decreases 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.