SNX16
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Summary
SNX16 (sorting nexin 16, HGNC:14980) is a protein-coding gene on chromosome 8q21.13, encoding Sorting nexin-16 (P57768). May be involved in several stages of intracellular trafficking.
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis.
Source: NCBI Gene 64089 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_152836
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14980 |
| Approved symbol | SNX16 |
| Name | sorting nexin 16 |
| Location | 8q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000104497 |
| Ensembl biotype | protein_coding |
| OMIM | 614903 |
| Entrez | 64089 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 20 protein_coding, 1 retained_intron
ENST00000345957, ENST00000353788, ENST00000396330, ENST00000518183, ENST00000519119, ENST00000519212, ENST00000519817, ENST00000520618, ENST00000521773, ENST00000521810, ENST00000523757, ENST00000856552, ENST00000856553, ENST00000856554, ENST00000856555, ENST00000944857, ENST00000944858, ENST00000944859, ENST00000944860, ENST00000944861, ENST00000944862
RefSeq mRNA: 4 — MANE Select: NM_152836
NM_001348189, NM_022133, NM_152836, NM_152837
CCDS: CCDS6234, CCDS6235
Canonical transcript exons
ENST00000345957 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000698185 | 81802380 | 81802499 |
| ENSE00000698186 | 81803092 | 81803228 |
| ENSE00001016779 | 81829430 | 81829516 |
| ENSE00001206592 | 81815325 | 81815394 |
| ENSE00001211854 | 81839612 | 81840082 |
| ENSE00002124524 | 81799583 | 81801593 |
| ENSE00002131586 | 81842122 | 81842185 |
| ENSE00003790331 | 81823792 | 81823940 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 97.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.1422 / max 88.0861, expressed in 1507 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93780 | 2.3666 | 1037 |
| 93781 | 1.5787 | 933 |
| 93784 | 0.6578 | 376 |
| 93783 | 0.3065 | 185 |
| 93782 | 0.2327 | 127 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.34 | gold quality |
| male germ cell | CL:0000015 | 93.22 | gold quality |
| secondary oocyte | CL:0000655 | 90.03 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.82 | gold quality |
| skin of hip | UBERON:0001554 | 86.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.30 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 86.19 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.21 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.07 | gold quality |
| monocyte | CL:0000576 | 84.48 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 84.23 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.90 | gold quality |
| oocyte | CL:0000023 | 83.89 | gold quality |
| gall bladder | UBERON:0002110 | 83.71 | gold quality |
| parietal pleura | UBERON:0002400 | 83.67 | gold quality |
| mononuclear cell | CL:0000842 | 83.61 | gold quality |
| gingiva | UBERON:0001828 | 83.19 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.05 | gold quality |
| visceral pleura | UBERON:0002401 | 82.88 | gold quality |
| leukocyte | CL:0000738 | 82.85 | gold quality |
| pleura | UBERON:0000977 | 81.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.32 | gold quality |
| amniotic fluid | UBERON:0000173 | 81.17 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 80.83 | gold quality |
| cortical plate | UBERON:0005343 | 80.61 | gold quality |
| upper leg skin | UBERON:0004262 | 80.49 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.28 | gold quality |
| esophagus | UBERON:0001043 | 80.13 | gold quality |
| adipose tissue | UBERON:0001013 | 79.88 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 79.87 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
182 targeting SNX16, 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-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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
Literature-anchored findings (GeneRIF, showing 6)
- SNX16 is a sorting nexin that may function in the trafficking of proteins between the early and late endosomal compartments (PMID:12813048)
- SNX16 regulates the recycling trafficking of E-cadherin . SNX16 associates with the cytoplasmic domain of E-cadherin via PPII/alpha2 loop. (PMID:28712807)
- SNX16 activates c-Myc signaling by inhibiting ubiquitin-mediated proteasomal degradation of eEF1A2 in colorectal cancer development. (PMID:31876369)
- BHLHE40 plays a pathological role in pre-eclampsia through upregulating SNX16 by transcriptional inhibition of miR-196a-5p. (PMID:32579212)
- [Sorting Nexin 16:Structure,Function,and Role in Diseases]. (PMID:36373636)
- SNX16 is required for hepatocellular carcinoma survival via modulating the EGFR-AKT signaling pathway. (PMID:38849490)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snx16 | ENSDARG00000046072 |
| mus_musculus | Snx16 | ENSMUSG00000027534 |
| rattus_norvegicus | Snx16 | ENSRNOG00000009953 |
| drosophila_melanogaster | Snx16 | FBGN0034265 |
Paralogs (1): PXK (ENSG00000168297)
Protein
Protein identifiers
Sorting nexin-16 — P57768 (reviewed: P57768)
All UniProt accessions (8): P57768, E5RG30, E5RGQ6, E5RGS8, E5RH07, E5RHF1, E5RJ65, E5RJ81
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm.
Subunit / interactions. Homooligomer. Interacts with EGFR.
Subcellular location. Early endosome membrane. Late endosome membrane. Cytoplasm. Lysosome.
Tissue specificity. Detected in placenta, lung, liver,heart and pancreas.
Domain organisation. The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.
Similarity. Belongs to the sorting nexin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P57768-1 | 1 | yes |
| P57768-2 | 2 |
RefSeq proteins (4): NP_001335118, NP_071416, NP_690049, NP_690050 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001683 | PX_dom | Domain |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR037911 | SNX16_PX | Domain |
| IPR051837 | SortingNexin/PXDomain-PKLike | Family |
Pfam: PF00787
UniProt features (29 total): helix 6, strand 5, compositionally biased region 4, binding site 3, mutagenesis site 2, region of interest 2, chain 1, domain 1, modified residue 1, splice variant 1, sequence variant 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5GW0 | X-RAY DIFFRACTION | 3.3 |
| 5GW1 | X-RAY DIFFRACTION | 3.35 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P57768-F1 | 71.42 | 0.42 |
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 (3): 146; 184; 144
Post-translational modifications (1): 222
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 144 | abolishes binding to membranes enriched in phosphatidylinositol 3-phosphate. |
| 145 | abolishes binding to phosphatidylinositol 3-phosphate. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 245 (showing top):
ACTACCT_MIR196A_MIR196B, GOBP_LYSOSOMAL_TRANSPORT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOZGIT_ESR1_TARGETS_DN, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_PROTEIN_TARGETING, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1
GO Biological Process (5): receptor recycling (GO:0001881), protein targeting to lysosome (GO:0006622), endosome to lysosome transport (GO:0008333), early endosome to late endosome transport (GO:0045022), protein transport (GO:0015031)
GO Molecular Function (3): phosphatidylinositol binding (GO:0035091), identical protein binding (GO:0042802), lipid binding (GO:0008289)
GO Cellular Component (9): lysosome (GO:0005764), early endosome (GO:0005769), late endosome (GO:0005770), endosome membrane (GO:0010008), early endosome membrane (GO:0031901), late endosome membrane (GO:0031902), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endosome | 3 |
| lysosomal transport | 2 |
| endosome membrane | 2 |
| cellular anatomical structure | 2 |
| endocytosis | 1 |
| receptor metabolic process | 1 |
| protein targeting to vacuole | 1 |
| protein localization to lysosome | 1 |
| intercellular transport | 1 |
| vesicle-mediated transport | 1 |
| cytoplasm | 1 |
| vesicle-mediated transport between endosomal compartments | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| anion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| lytic vacuole | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| early endosome | 1 |
| late endosome | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
646 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNX16 | FCHSD2 | O94868 | 749 |
| SNX16 | VPS26A | O75436 | 676 |
| SNX16 | FCHSD1 | Q86WN1 | 576 |
| SNX16 | SNX15 | Q9NRS6 | 561 |
| SNX16 | SNX1 | Q13596 | 557 |
| SNX16 | SNX17 | Q15036 | 551 |
| SNX16 | SNX20 | Q7Z614 | 540 |
| SNX16 | SNX3 | O60493 | 530 |
| SNX16 | SNX11 | Q9Y5W9 | 519 |
| SNX16 | SNX21 | Q969T3 | 505 |
| SNX16 | SNX27 | Q96L92 | 505 |
| SNX16 | SNX24 | Q9Y343 | 478 |
| SNX16 | SNX2 | P82862 | 475 |
| SNX16 | ALS2CL | Q60I27 | 474 |
| SNX16 | SNX9 | Q9Y5X1 | 473 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YEATS4 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.790 |
| ZNF175 | SNX16 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF6 | ACADS | psi-mi:“MI:0914”(association) | 0.350 |
| SNX16 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF778 | LRP4 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF767P | ZMYM6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (53): SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Synthetic Lethality), SNX16 (Affinity Capture-MS), TBC1D2B (Affinity Capture-MS), SNX16 (Affinity Capture-MS), YEATS4 (Affinity Capture-MS), SNX16 (Affinity Capture-MS), SNX16 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GR68, A2CG63, A2VE56, D3ZHS6, E6ZGB4, F7AQ22, O75376, O88974, P0C6S7, P57768, P57769, Q15047, Q2YDJ8, Q2YDW7, Q4KKX4, Q4LE39, Q52L14, Q5F3F2, Q5F3N6, Q5FWF5, Q5R6Q7, Q5VVJ2, Q60974, Q66JB6, Q68FE8, Q69Z61, Q69Z66, Q69Z69, Q6N043, Q6NXK2, Q7Z6G8, Q86YI8, Q8BIZ1, Q8C080, Q8K2W6, Q8QFX1, Q92560, Q96N64, Q98925, Q99PU7
Diamond homologs: A0A1B7YDZ4, A1A4L0, A7TKX9, I1RXT2, O60493, O70492, O70493, O95219, P0CR60, P0CR61, P0CR62, P0CR63, P40959, P47057, P57768, P57769, Q08DD7, Q1RMH8, Q28E02, Q2U4K2, Q2UB56, Q3MPQ4, Q4I1H6, Q4P1V3, Q4R5U9, Q4V7P7, Q4WWS3, Q4WZF1, Q5A748, Q5AD77, Q5R4C2, Q5R5V1, Q5R6Q7, Q5U211, Q6BHN9, Q6BIS2, Q6C2S9, Q6CHY6, Q6CUC4, Q6FNH2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1835 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:81801589:CAGCT:C | acceptor_gain | 1.0000 |
| 8:81801590:AGCT:A | acceptor_gain | 1.0000 |
| 8:81801592:CT:C | acceptor_gain | 1.0000 |
| 8:81801593:TC:T | acceptor_loss | 1.0000 |
| 8:81801594:C:CA | acceptor_loss | 1.0000 |
| 8:81801594:C:CC | acceptor_gain | 1.0000 |
| 8:81802375:TATA:T | donor_loss | 1.0000 |
| 8:81802376:ATACC:A | donor_loss | 1.0000 |
| 8:81802377:TA:T | donor_loss | 1.0000 |
| 8:81802378:A:AC | donor_gain | 1.0000 |
| 8:81802378:A:C | donor_loss | 1.0000 |
| 8:81802379:C:A | donor_loss | 1.0000 |
| 8:81802379:C:CC | donor_gain | 1.0000 |
| 8:81802382:AGATT:A | donor_gain | 1.0000 |
| 8:81802383:G:C | donor_gain | 1.0000 |
| 8:81802495:ATGTT:A | acceptor_gain | 1.0000 |
| 8:81802496:TGTT:T | acceptor_gain | 1.0000 |
| 8:81802497:GTT:G | acceptor_gain | 1.0000 |
| 8:81802500:C:CC | acceptor_gain | 1.0000 |
| 8:81803090:A:AC | donor_gain | 1.0000 |
| 8:81803090:A:C | donor_loss | 1.0000 |
| 8:81803091:C:A | donor_loss | 1.0000 |
| 8:81803091:C:CC | donor_gain | 1.0000 |
| 8:81803133:A:AC | donor_gain | 1.0000 |
| 8:81803134:C:CC | donor_gain | 1.0000 |
| 8:81803224:AATGC:A | acceptor_gain | 1.0000 |
| 8:81803225:ATGC:A | acceptor_gain | 1.0000 |
| 8:81803226:TGC:T | acceptor_gain | 1.0000 |
| 8:81803227:GC:G | acceptor_gain | 1.0000 |
| 8:81803228:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
2273 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:81815376:A:C | F210L | 1.000 |
| 8:81815376:A:T | F210L | 1.000 |
| 8:81815377:A:C | F210C | 1.000 |
| 8:81815377:A:G | F210S | 1.000 |
| 8:81815378:A:G | F210L | 1.000 |
| 8:81823828:A:G | L192P | 1.000 |
| 8:81823830:A:C | F191L | 1.000 |
| 8:81823830:A:T | F191L | 1.000 |
| 8:81823831:A:G | F191S | 1.000 |
| 8:81823832:A:G | F191L | 1.000 |
| 8:81823840:A:G | L188S | 1.000 |
| 8:81823851:T:A | R184S | 1.000 |
| 8:81823851:T:G | R184S | 1.000 |
| 8:81823852:C:A | R184I | 1.000 |
| 8:81823852:C:G | R184T | 1.000 |
| 8:81823853:T:C | R184G | 1.000 |
| 8:81823861:A:G | L181S | 1.000 |
| 8:81823863:A:C | F180L | 1.000 |
| 8:81823863:A:T | F180L | 1.000 |
| 8:81823864:A:G | F180S | 1.000 |
| 8:81823865:A:G | F180L | 1.000 |
| 8:81823896:T:A | K169N | 1.000 |
| 8:81823896:T:G | K169N | 1.000 |
| 8:81823897:T:A | K169I | 1.000 |
| 8:81823939:A:G | L155S | 1.000 |
| 8:81829440:A:G | L151P | 1.000 |
| 8:81829449:A:G | F148S | 1.000 |
| 8:81829458:T:C | Y145C | 1.000 |
| 8:81829459:A:C | Y145D | 1.000 |
| 8:81829459:A:G | Y145H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002069 (8:81823677 T>C), RS1000028372 (8:81804775 A>T), RS1000162910 (8:81804058 T>C), RS1000256582 (8:81816598 G>A,T), RS1000332455 (8:81820727 C>G), RS1000426403 (8:81816935 T>A,C), RS1000689781 (8:81834986 C>T), RS1000701653 (8:81803731 A>C), RS1000841076 (8:81828370 T>C,G), RS1000874456 (8:81822268 G>A,C), RS1000948068 (8:81829265 T>C), RS1000974131 (8:81806640 C>T), RS1000992596 (8:81799326 A>C), RS1001006840 (8:81821977 C>T), RS1001111505 (8:81806351 T>C)
Disease associations
OMIM: gene MIM:614903 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000675_12 | Heart failure | 3.000000e-06 |
| GCST001941_13 | Ovarian cancer | 6.000000e-09 |
| GCST001941_17 | Ovarian cancer | 7.000000e-10 |
| GCST002408_5 | Response to methotrexate in juvenile idiopathic arthritis | 3.000000e-06 |
| GCST002408_6 | Response to methotrexate in juvenile idiopathic arthritis | 2.000000e-06 |
| GCST004642_3 | QT interval (ambient particulate matter interaction) | 2.000000e-06 |
| GCST006988_108 | Blond vs. brown/black hair color | 1.000000e-22 |
| GCST006989_32 | Brown vs. black hair color | 1.000000e-13 |
| GCST007094_167 | Diastolic blood pressure | 4.000000e-10 |
| GCST007099_155 | Systolic blood pressure | 3.000000e-06 |
| GCST007158_6 | Refractive astigmatism | 6.000000e-06 |
| GCST008505_1 | Fasting glucose change (short-term) | 1.000000e-06 |
| GCST009442_9 | Age-related cognitive decline (executive function) (slope of z-scores) | 2.000000e-06 |
| GCST012115_2 | Rheumatic heart disease | 4.000000e-07 |
| GCST012117_3 | Rheumatic heart disease | 1.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004682 | QT interval |
| EFO:0008255 | particulate matter air pollution measurement |
| EFO:0003924 | hair color |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0007710 | cognitive decline measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol A | decreases expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| jinfukang | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): heart failure, juvenile idiopathic arthritis, ovarian carcinoma, rheumatic heart disease