NAPG
gene geneOn this page
Summary
NAPG (NSF attachment protein gamma, HGNC:7642) is a protein-coding gene on chromosome 18p11.22, encoding Gamma-soluble NSF attachment protein (Q99747). Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. It is a selective cancer dependency (DepMap: 66.6% of cell lines).
This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.
Source: NCBI Gene 8774 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 56 total — 2 pathogenic
- Cancer dependency (DepMap): dependent in 66.6% of screened cell lines
- MANE Select transcript:
NM_003826
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7642 |
| Approved symbol | NAPG |
| Name | NSF attachment protein gamma |
| Location | 18p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000134265 |
| Ensembl biotype | protein_coding |
| OMIM | 603216 |
| Entrez | 8774 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000322897, ENST00000580224, ENST00000580483, ENST00000580746, ENST00000582472, ENST00000582978, ENST00000583367, ENST00000945386, ENST00000945387, ENST00000945388, ENST00000945389
RefSeq mRNA: 1 — MANE Select: NM_003826
NM_003826
CCDS: CCDS45827
Canonical transcript exons
ENST00000322897 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002705350 | 10526027 | 10526158 |
| ENSE00002732267 | 10550077 | 10552764 |
| ENSE00003504783 | 10533536 | 10533553 |
| ENSE00003513192 | 10546326 | 10546404 |
| ENSE00003529068 | 10540329 | 10540399 |
| ENSE00003532962 | 10539988 | 10540054 |
| ENSE00003535665 | 10532711 | 10532795 |
| ENSE00003579684 | 10534466 | 10534496 |
| ENSE00003606011 | 10548967 | 10549096 |
| ENSE00003659994 | 10548299 | 10548378 |
| ENSE00003662373 | 10530770 | 10530837 |
| ENSE00003725102 | 10539762 | 10539871 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 96.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.2207 / max 961.6922, expressed in 1812 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 169418 | 11.6136 | 1757 |
| 169417 | 10.6469 | 1766 |
| 169414 | 1.5594 | 858 |
| 169420 | 0.4008 | 154 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 96.41 | gold quality |
| pons | UBERON:0000988 | 96.32 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.52 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 92.22 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.01 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.86 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.59 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.57 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.47 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.38 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.21 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.65 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 90.53 | gold quality |
| spinal cord | UBERON:0002240 | 90.45 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.14 | gold quality |
| Ammon’s horn | UBERON:0001954 | 89.90 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.83 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.79 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.78 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.77 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.77 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.60 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.53 | gold quality |
| parietal lobe | UBERON:0001872 | 89.48 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.36 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.25 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.15 | gold quality |
| corpus callosum | UBERON:0002336 | 89.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
128 targeting NAPG, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 66.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- The functional domains of this protein are mapped. (PMID:12554740)
- Our study supports NAPG as a candidate for susceptibility to bipolar disorder as several combinations of haplotype were found to be associated with bipolar disorder. (PMID:19429185)
- study did not support NAPG as a susceptible gene for schizophrenia in the Chinese Han population (PMID:22113424)
- NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China. (PMID:34112136)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | napga | ENSDARG00000006617 |
| danio_rerio | napgb | ENSDARG00000043012 |
| mus_musculus | Napg | ENSMUSG00000024581 |
| rattus_norvegicus | Napg | ENSRNOG00000018914 |
| drosophila_melanogaster | gammaSnap1 | FBGN0028552 |
| drosophila_melanogaster | gammaSnap2 | FBGN0266721 |
| caenorhabditis_elegans | WBGENE00013345 | |
| caenorhabditis_elegans | WBGENE00044794 |
Paralogs (2): NAPA (ENSG00000105402), NAPB (ENSG00000125814)
Protein
Protein identifiers
Gamma-soluble NSF attachment protein — Q99747 (reviewed: Q99747)
Alternative names: N-ethylmaleimide-sensitive factor attachment protein gamma
All UniProt accessions (5): Q99747, J3KTJ6, J3QKW4, J3QS28, Q6FHY4
UniProt curated annotations — full annotation on UniProt →
Function. Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
Subunit / interactions. Interacts with RAB11FIP5. Interacts with VTI1A.
Subcellular location. Membrane. Golgi apparatus.
Similarity. Belongs to the SNAP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99747-1 | 1 | yes |
| Q99747-2 | 2 |
RefSeq proteins (1): NP_003817* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000744 | NSF_attach | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
Pfam: PF14938
UniProt features (10 total): modified residue 3, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99747-F1 | 91.67 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 284, 287, 308
Function
Pathways and Gene Ontology
Reactome pathways
14 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-6811438 | Intra-Golgi traffic |
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 0 (showing top):
GO Biological Process (7): intracellular protein transport (GO:0006886), intra-Golgi vesicle-mediated transport (GO:0006891), protein stabilization (GO:0050821), membrane fusion (GO:0061025), protein-containing complex assembly (GO:0065003), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)
GO Molecular Function (3): soluble NSF attachment protein activity (GO:0005483), syntaxin binding (GO:0019905), protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), lysosomal membrane (GO:0005765), Golgi apparatus (GO:0005794), SNARE complex (GO:0031201), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 3 |
| ER to Golgi Anterograde Transport | 2 |
| Membrane Trafficking | 2 |
| Golgi-to-ER retrograde transport | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| intracellular protein localization | 2 |
| transport | 2 |
| intracellular membrane-bounded organelle | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| regulation of protein stability | 1 |
| membrane organization | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| protein-macromolecule adaptor activity | 1 |
| SNARE binding | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endomembrane system | 1 |
| membrane protein complex | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1070 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAPG | NAPA | P54920 | 974 |
| NAPG | NSF | P46459 | 828 |
| NAPG | STX2 | P32856 | 796 |
| NAPG | STX4 | Q12846 | 713 |
| NAPG | GNA12 | Q03113 | 641 |
| NAPG | GOSR1 | O95249 | 597 |
| NAPG | STX16 | O14662 | 551 |
| NAPG | CDH5 | P33151 | 549 |
| NAPG | NAPB | Q9H115 | 532 |
| NAPG | VAMP2 | P19065 | 510 |
| NAPG | STXBP1 | P61764 | 490 |
| NAPG | SNAP25 | P13795 | 489 |
| NAPG | STX12 | Q86Y82 | 483 |
| NAPG | LZIC | Q8WZA0 | 468 |
| NAPG | VAMP3 | Q15836 | 460 |
IntAct
107 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX11 | SNAP23 | psi-mi:“MI:0914”(association) | 0.900 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| VPS25 | VPS36 | psi-mi:“MI:0914”(association) | 0.800 |
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| NAPG | NSF | psi-mi:“MI:0914”(association) | 0.640 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| NAPA | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| FAM177A1 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| PIPOX | ZNF217 | psi-mi:“MI:0914”(association) | 0.530 |
| PRPSAP2 | CCNB1 | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| NUFIP1 | PDE2A | psi-mi:“MI:0914”(association) | 0.530 |
| CPNE5 | RAD21 | psi-mi:“MI:0914”(association) | 0.530 |
| STX3 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| FAIM | WDR47 | psi-mi:“MI:0914”(association) | 0.500 |
| BET1 | SNAP23 | psi-mi:“MI:0914”(association) | 0.420 |
| NAPG | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Kif13b | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tecpr2 | PUF60 | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA7 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| VAMP5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| STX6 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| VAMP4 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (150): RAB11FIP5 (Reconstituted Complex), RAB11FIP5 (Two-hybrid), NAPG (Affinity Capture-Western), Rab11fip5 (Reconstituted Complex), TUBG1 (Reconstituted Complex), NAPG (Affinity Capture-MS), NAPG (Affinity Capture-MS), NAPG (Affinity Capture-MS), NAPG (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), NAPA (Affinity Capture-MS), SCFD2 (Affinity Capture-MS), PRKACB (Affinity Capture-MS), PRKAR1B (Affinity Capture-MS), VAMP4 (Affinity Capture-MS)
ESM2 similar proteins: A1Z6M6, A8XHX1, O16259, O35814, O54981, P0C1I1, P15705, P23231, P26882, P31948, P32602, P34560, P78603, P81127, Q05036, Q08752, Q20683, Q20938, Q2U0E0, Q3ZBZ8, Q4P7J4, Q4R8N7, Q54DA8, Q54IP0, Q54NP6, Q5B3U7, Q5R8D8, Q60864, Q6BLG8, Q6BXZ7, Q6CBP4, Q6CFI3, Q6CFJ0, Q6CL78, Q6DGG0, Q75D68, Q7SI58, Q7ZWU1, Q8ILC1, Q8VWG7
Diamond homologs: P81127, Q99747, Q9CWZ7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Intra-Golgi traffic | 7 | 29.3× | 1e-06 |
| Retrograde transport at the Trans-Golgi-Network | 6 | 21.2× | 5e-05 |
| COPII-mediated vesicle transport | 5 | 13.2× | 2e-03 |
| COPI-dependent Golgi-to-ER retrograde traffic | 7 | 12.5× | 1e-04 |
| COPI-mediated anterograde transport | 7 | 12.4× | 1e-04 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 7 | 11.8× | 1e-04 |
| Golgi-to-ER retrograde transport | 5 | 10.7× | 3e-03 |
| Membrane Trafficking | 9 | 5.4× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking | 7 | 60.9× | 8e-09 |
| vesicle fusion | 7 | 47.9× | 3e-08 |
| intra-Golgi vesicle-mediated transport | 6 | 35.9× | 2e-06 |
| membrane fusion | 5 | 35.5× | 3e-05 |
| endocytic recycling | 5 | 15.2× | 2e-03 |
| intracellular protein transport | 12 | 8.8× | 2e-06 |
| protein transport | 10 | 5.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146198 | GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 | Pathogenic |
| 1526593 | GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) | Pathogenic |
SpliceAI
2201 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:10526154:AAATA:A | donor_gain | 1.0000 |
| 18:10526155:AATA:A | donor_gain | 1.0000 |
| 18:10526156:ATA:A | donor_gain | 1.0000 |
| 18:10526157:TA:T | donor_gain | 1.0000 |
| 18:10526158:AG:A | donor_loss | 1.0000 |
| 18:10526159:GTGA:G | donor_gain | 1.0000 |
| 18:10526161:GA:G | donor_gain | 1.0000 |
| 18:10526163:G:GG | donor_gain | 1.0000 |
| 18:10528985:T:TA | acceptor_gain | 1.0000 |
| 18:10528987:T:TA | acceptor_gain | 1.0000 |
| 18:10528988:G:A | acceptor_gain | 1.0000 |
| 18:10530768:A:AG | acceptor_gain | 1.0000 |
| 18:10530769:G:GG | acceptor_gain | 1.0000 |
| 18:10532793:G:GT | donor_gain | 1.0000 |
| 18:10533509:A:AG | acceptor_gain | 1.0000 |
| 18:10533510:A:G | acceptor_gain | 1.0000 |
| 18:10533514:T:TA | acceptor_gain | 1.0000 |
| 18:10539481:G:GT | donor_gain | 1.0000 |
| 18:10539732:T:A | acceptor_gain | 1.0000 |
| 18:10539744:T:A | acceptor_gain | 1.0000 |
| 18:10539753:T:TA | acceptor_gain | 1.0000 |
| 18:10539758:A:AG | acceptor_gain | 1.0000 |
| 18:10539761:GGA:G | acceptor_gain | 1.0000 |
| 18:10539867:GGAAA:G | donor_gain | 1.0000 |
| 18:10539868:GAAA:G | donor_gain | 1.0000 |
| 18:10539868:GAAAG:G | donor_gain | 1.0000 |
| 18:10539869:A:T | donor_gain | 1.0000 |
| 18:10539870:AAGT:A | donor_loss | 1.0000 |
| 18:10539871:AG:A | donor_loss | 1.0000 |
| 18:10539872:G:GG | donor_gain | 1.0000 |
AlphaMissense
2041 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:10526127:G:T | G9W | 1.000 |
| 18:10530814:C:A | A34D | 1.000 |
| 18:10532746:G:C | A54P | 1.000 |
| 18:10533550:C:A | A75D | 1.000 |
| 18:10534483:G:A | G82E | 1.000 |
| 18:10548327:T:C | L205P | 1.000 |
| 18:10526128:G:A | G9E | 0.999 |
| 18:10530813:G:C | A34P | 0.999 |
| 18:10530817:C:A | A35D | 0.999 |
| 18:10530834:G:C | A41P | 0.999 |
| 18:10532724:A:C | K46N | 0.999 |
| 18:10532724:A:T | K46N | 0.999 |
| 18:10532728:G:C | A48P | 0.999 |
| 18:10532770:G:C | A62P | 0.999 |
| 18:10533540:T:C | F72L | 0.999 |
| 18:10533542:T:A | F72L | 0.999 |
| 18:10533542:T:G | F72L | 0.999 |
| 18:10533546:G:C | A74P | 0.999 |
| 18:10533547:C:A | A74D | 0.999 |
| 18:10533549:G:C | A75P | 0.999 |
| 18:10534479:G:C | A81P | 0.999 |
| 18:10534482:G:A | G82R | 0.999 |
| 18:10534482:G:C | G82R | 0.999 |
| 18:10539783:G:C | A94P | 0.999 |
| 18:10539804:G:C | A101P | 0.999 |
| 18:10539805:C:A | A101D | 0.999 |
| 18:10539843:G:C | A114P | 0.999 |
| 18:10539844:C:A | A114E | 0.999 |
| 18:10539847:C:A | A115D | 0.999 |
| 18:10539862:G:C | R120P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000087769 (18:10535764 GTAATAA>G,GTAA,GTAATAATAA), RS1000139316 (18:10542074 TG>T), RS1000408137 (18:10524300 A>C,T), RS1000544444 (18:10535501 C>T), RS1000549051 (18:10551005 T>G), RS1000758091 (18:10524534 C>T), RS1000781762 (18:10525553 G>T), RS1000796145 (18:10528055 G>A), RS1000915305 (18:10528312 G>T), RS1001090760 (18:10536912 T>G), RS1001121630 (18:10534298 A>G), RS1001122987 (18:10528445 A>G,T), RS1001175320 (18:10528092 A>G), RS1001345729 (18:10525899 C>T), RS1001406042 (18:10534101 C>T)
Disease associations
OMIM: gene MIM:603216 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001210_1 | Non-small cell lung cancer | 1.000000e-06 |
| GCST003875_20 | Gut microbiota (bacterial taxa) | 3.000000e-11 |
| GCST003875_21 | Gut microbiota (bacterial taxa) | 3.000000e-11 |
| GCST003875_22 | Gut microbiota (bacterial taxa) | 3.000000e-11 |
| GCST009391_1108 | Metabolite levels | 3.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0007883 | taxonomic microbiome measurement |
| EFO:0010448 | 3-hydroxyphenylacetic acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 5 |
| Benzo(a)pyrene | decreases methylation, increases expression | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| microcystin RR | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| K 7174 | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | 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.