STXBP5L
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Also known as KIAA1006LLGL4tomosyn-2
Summary
STXBP5L (syntaxin binding protein 5L, HGNC:30757) is a protein-coding gene on chromosome 3q13.33, encoding Syntaxin-binding protein 5-like (Q9Y2K9). Plays a role in vesicle trafficking and exocytosis inhibition.
The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents.
Source: NCBI Gene 9515 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 177 total
- MANE Select transcript:
NM_001308330
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30757 |
| Approved symbol | STXBP5L |
| Name | syntaxin binding protein 5L |
| Location | 3q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1006, LLGL4, tomosyn-2 |
| Ensembl gene | ENSG00000145087 |
| Ensembl biotype | protein_coding |
| OMIM | 609381 |
| Entrez | 9515 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 nonsense_mediated_decay
ENST00000273666, ENST00000461772, ENST00000471262, ENST00000471454, ENST00000472879, ENST00000492541, ENST00000495504, ENST00000497029, ENST00000707001, ENST00000879204, ENST00000938469
RefSeq mRNA: 5 — MANE Select: NM_001308330
NM_001308330, NM_001348343, NM_001348344, NM_001348345, NM_014980
CCDS: CCDS43137, CCDS77799
Canonical transcript exons
ENST00000471454 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000968706 | 121157504 | 121157627 |
| ENSE00000968707 | 121205923 | 121206001 |
| ENSE00000968709 | 121233616 | 121233688 |
| ENSE00000968710 | 121238971 | 121239118 |
| ENSE00000968711 | 121240440 | 121240507 |
| ENSE00000968712 | 121250723 | 121250763 |
| ENSE00000968713 | 121254895 | 121255112 |
| ENSE00000968714 | 121257161 | 121257333 |
| ENSE00000968715 | 121259043 | 121259168 |
| ENSE00000968716 | 121279805 | 121279956 |
| ENSE00000968718 | 121318475 | 121318540 |
| ENSE00000968723 | 121223003 | 121223157 |
| ENSE00001012295 | 121413158 | 121413323 |
| ENSE00001012297 | 121381293 | 121381532 |
| ENSE00001012307 | 121415857 | 121415968 |
| ENSE00001012310 | 121378716 | 121378886 |
| ENSE00001012312 | 121418337 | 121418557 |
| ENSE00001012313 | 121407243 | 121407603 |
| ENSE00001078687 | 120909571 | 120909767 |
| ENSE00001078688 | 120954940 | 120955037 |
| ENSE00001137699 | 121419056 | 121424761 |
| ENSE00001137704 | 120908205 | 120908334 |
| ENSE00003472237 | 121114925 | 121115059 |
| ENSE00003530309 | 121045435 | 121045535 |
| ENSE00003604300 | 121152477 | 121152560 |
| ENSE00003645823 | 121041700 | 121041781 |
| ENSE00003653782 | 121121641 | 121121704 |
Expression profiles
Bgee: expression breadth ubiquitous, 145 present calls, max score 89.45.
FANTOM5 (CAGE): breadth broad, TPM avg 6.2174 / max 737.0575, expressed in 368 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38181 | 6.0515 | 363 |
| 38182 | 0.0776 | 44 |
| 38183 | 0.0527 | 31 |
| 38184 | 0.0356 | 27 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 89.45 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.40 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.35 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.10 | gold quality |
| cerebellum | UBERON:0002037 | 88.57 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.44 | gold quality |
| endothelial cell | CL:0000115 | 87.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.31 | gold quality |
| pons | UBERON:0000988 | 85.24 | gold quality |
| cerebellar vermis | UBERON:0004720 | 84.67 | gold quality |
| primary visual cortex | UBERON:0002436 | 83.83 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 83.08 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.04 | gold quality |
| occipital lobe | UBERON:0002021 | 82.44 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.20 | gold quality |
| frontal cortex | UBERON:0001870 | 81.40 | gold quality |
| postcentral gyrus | UBERON:0002581 | 81.08 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.07 | gold quality |
| parietal lobe | UBERON:0001872 | 80.98 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 80.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.76 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 80.75 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.29 | gold quality |
| entorhinal cortex | UBERON:0002728 | 80.11 | gold quality |
| neocortex | UBERON:0001950 | 79.93 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.30 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 77.45 | gold quality |
| telencephalon | UBERON:0001893 | 75.90 | gold quality |
| brain | UBERON:0000955 | 75.77 | gold quality |
| Ammon’s horn | UBERON:0001954 | 75.55 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 2630.28 |
| E-GEOD-180759 | yes | 2354.45 |
| E-HCAD-25 | yes | 2234.64 |
| E-GEOD-98556 | yes | 279.29 |
| E-MTAB-5061 | yes | 10.94 |
| E-ANND-3 | yes | 5.67 |
| E-HCAD-30 | no | 1343.29 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
257 targeting STXBP5L, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
Literature-anchored findings (GeneRIF, showing 4)
- In skin aging rs322458, was in linkage disequilibrium (LD) with intronic single nucleotide polymorphisms of the STXBP5L gene, which is expressed in the skin. (PMID:23223146)
- A homozygous nonsynonymous mutation in STXBP5L (c.3127G>A, p.Val1043Ile [CCDS43137.1]) was implicated in an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit. (PMID:25504045)
- Homozygous mutation of STXBP5L is associated with autosomal recessive infantile-onset neurodegenerative disorder. (PMID:25504045)
- Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women. (PMID:37054626)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stxbp5l | ENSDARG00000006383 |
| mus_musculus | Stxbp5l | ENSMUSG00000022829 |
| rattus_norvegicus | Stxbp5l | ENSRNOG00000002496 |
| drosophila_melanogaster | Tomosyn | FBGN0030412 |
| caenorhabditis_elegans | tom-1 | WBGENE00006594 |
Paralogs (3): LLGL2 (ENSG00000073350), LLGL1 (ENSG00000131899), STXBP5 (ENSG00000164506)
Protein
Protein identifiers
Syntaxin-binding protein 5-like — Q9Y2K9 (reviewed: Q9Y2K9)
Alternative names: Lethal(2) giant larvae protein homolog 4, Tomosyn-2
All UniProt accessions (7): C9JCY1, C9JPK3, C9JQS3, C9JUZ7, C9K0E4, E9PFI2, Q9Y2K9
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in vesicle trafficking and exocytosis inhibition. In pancreatic beta-cells, inhibits insulin secretion probably by interacting with and regulating STX1A and STX4, key t-SNARE proteins involved in the fusion of insulin granules to the plasma membrane. Also plays a role in neurotransmitter release by inhibiting basal acetylcholine release from axon terminals and by preventing synaptic fatigue upon repetitive stimulation. Promotes as well axonal outgrowth.
Subunit / interactions. Interacts with STX1A and STX4.
Subcellular location. Cytoplasm. Cell membrane. Membrane.
Tissue specificity. Detected in kidney, hippocampus and lung carcinoma.
Post-translational modifications. Phosphorylated, leading to STXBP5L increased turnover and subsequent de-repression of insulin secretion. Phosphorylated on serine residues in response to glucose or phorbol esters. Ubiquitinated by the E3 ligase SYVN1, leading to STXBP5L proteasomal degradation.
Similarity. Belongs to the WD repeat L(2)GL family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2K9-1 | 1 | yes |
| Q9Y2K9-2 | 2 |
RefSeq proteins (5): NP_001295259, NP_001335272, NP_001335273, NP_001335274, NP_055795 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000664 | Lethal2_giant | Family |
| IPR001680 | WD40_rpt | Repeat |
| IPR013577 | LLGL2 | Domain |
| IPR013905 | Lgl_C_dom | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR042855 | V_SNARE_CC | Domain |
Pfam: PF00400, PF08366, PF08596
UniProt features (46 total): modified residue 20, repeat 14, sequence variant 3, region of interest 2, compositionally biased region 2, splice variant 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2K9-F1 | 77.38 | 0.56 |
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 (20): 1, 568, 574, 589, 593, 596, 599, 709, 763, 765, 766, 771, 772, 793, 800, 812, 820, 822, 823, 1093
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 130 (showing top):
GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, MORF_IL4, GOBP_SECRETION, GOBP_LOCALIZATION_WITHIN_MEMBRANE, BLALOCK_ALZHEIMERS_DISEASE_DN, GOMF_SYNTAXIN_BINDING, ZHENG_IL22_SIGNALING_UP, GOBP_GOLGI_VESICLE_TRANSPORT, MORF_PAX7, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_CYTOSKELETAL_PROTEIN_BINDING, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY
GO Biological Process (7): exocytosis (GO:0006887), Golgi to plasma membrane transport (GO:0006893), protein transport (GO:0015031), regulation of exocytosis (GO:0017157), glucose homeostasis (GO:0042593), negative regulation of insulin secretion (GO:0046676), regulation of synaptic vesicle exocytosis (GO:2000300)
GO Molecular Function (4): GTPase activator activity (GO:0005096), syntaxin binding (GO:0019905), myosin II binding (GO:0045159), protein binding (GO:0005515)
GO Cellular Component (6): cytoplasm (GO:0005737), plasma membrane (GO:0005886), SNARE complex (GO:0031201), membrane (GO:0016020), neuromuscular junction (GO:0031594), neuronal dense core vesicle (GO:0098992)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| post-Golgi vesicle-mediated transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| exocytosis | 1 |
| regulation of vesicle-mediated transport | 1 |
| regulation of secretion by cell | 1 |
| carbohydrate homeostasis | 1 |
| insulin secretion | 1 |
| negative regulation of protein secretion | 1 |
| regulation of insulin secretion | 1 |
| negative regulation of peptide hormone secretion | 1 |
| synaptic vesicle exocytosis | 1 |
| regulation of neurotransmitter secretion | 1 |
| regulation of regulated secretory pathway | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| SNARE binding | 1 |
| myosin binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| membrane protein complex | 1 |
| synapse | 1 |
| dense core granule | 1 |
Protein interactions and networks
STRING
1266 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STXBP5L | SNAP23 | O00161 | 701 |
| STXBP5L | STX4 | Q12846 | 637 |
| STXBP5L | STX1A | Q16623 | 627 |
| STXBP5L | STX11 | O75558 | 574 |
| STXBP5L | STX19 | Q8N4C7 | 566 |
| STXBP5L | AP3S2 | P59780 | 474 |
| STXBP5L | SCGN | O76038 | 455 |
| STXBP5L | SNAP25 | P13795 | 412 |
| STXBP5L | SYNPO2 | Q9UMS6 | 410 |
| STXBP5L | STXBP1 | P61764 | 407 |
| STXBP5L | AZIN1 | O14977 | 399 |
| STXBP5L | SDR39U1 | Q9NRG7 | 390 |
| STXBP5L | NSG2 | Q9Y328 | 384 |
| STXBP5L | C9orf153 | Q5TBE3 | 369 |
| STXBP5L | STXBP3 | O00186 | 360 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STXBP5L | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | STXBP5L | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX2 | STXBP5L | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAP23 | STXBP5L | psi-mi:“MI:0915”(physical association) | 0.370 |
| STX19 | SULT1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| STX19 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
| GPSM3 | STXBP5L | psi-mi:“MI:0915”(physical association) | 0.000 |
| STX12 | STXBP5L | psi-mi:“MI:0915”(physical association) | 0.000 |
| STX2 | STXBP5L | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (256): STXBP5L (Affinity Capture-MS), STXBP5L (Affinity Capture-MS), STXBP5L (Affinity Capture-RNA), STXBP5L (Synthetic Lethality), STXBP5L (Two-hybrid), STXBP5L (Two-hybrid), GPSM3 (Two-hybrid), STXBP5L (Affinity Capture-MS), STXBP5L (Affinity Capture-MS), ANXA6 (Cross-Linking-MS (XL-MS)), STXBP5L (Affinity Capture-MS), SYVN1 (Affinity Capture-Western), Stxbp5l (Affinity Capture-MS), Dnaja1 (Affinity Capture-MS), Sncb (Affinity Capture-MS)
ESM2 similar proteins: A2AC93, B2RY71, E7F6H7, E9PYY5, E9Q5M6, O14576, O43815, O55106, O88485, O88487, P27766, P36872, P70483, Q0III3, Q13409, Q13610, Q16959, Q16960, Q29RQ3, Q2HJ56, Q32KS2, Q32LP9, Q4QR00, Q4V8G4, Q5DQR4, Q5NVM2, Q5SQE2, Q5VTH9, Q5XIL8, Q5ZLK1, Q62871, Q63100, Q66HC9, Q6GPB9, Q8BPM2, Q8C0M8, Q8C0P5, Q8IVH8, Q8IWG1, Q92828
Diamond homologs: Q2YDL1, Q5DQR4, Q5SQE2, Q5T5C0, Q8K400, Q8NFX7, Q8R3T5, Q9WU70, Q9Y2K9, Q8R3S6, Q9NV70
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 147 |
| Likely benign | 12 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5829 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:120909569:A:AG | acceptor_gain | 1.0000 |
| 3:120909570:G:GG | acceptor_gain | 1.0000 |
| 3:120909570:GT:G | acceptor_gain | 1.0000 |
| 3:120909763:GCAAG:G | donor_gain | 1.0000 |
| 3:120909765:AAGGT:A | donor_loss | 1.0000 |
| 3:120909766:AGG:A | donor_loss | 1.0000 |
| 3:120909767:GGTA:G | donor_loss | 1.0000 |
| 3:120909768:G:GA | donor_loss | 1.0000 |
| 3:120954939:GACA:G | acceptor_gain | 1.0000 |
| 3:121045429:TTCTA:T | acceptor_loss | 1.0000 |
| 3:121045430:TCTA:T | acceptor_loss | 1.0000 |
| 3:121045431:CTAG:C | acceptor_loss | 1.0000 |
| 3:121045432:TAG:T | acceptor_loss | 1.0000 |
| 3:121045433:A:AG | acceptor_gain | 1.0000 |
| 3:121045433:A:C | acceptor_loss | 1.0000 |
| 3:121045433:AG:A | acceptor_gain | 1.0000 |
| 3:121045434:G:GC | acceptor_loss | 1.0000 |
| 3:121045434:G:GG | acceptor_gain | 1.0000 |
| 3:121045434:GG:G | acceptor_gain | 1.0000 |
| 3:121045434:GGGT:G | acceptor_gain | 1.0000 |
| 3:121045532:AACGG:A | donor_loss | 1.0000 |
| 3:121045533:ACGG:A | donor_loss | 1.0000 |
| 3:121045535:GGTA:G | donor_loss | 1.0000 |
| 3:121045536:GTA:G | donor_loss | 1.0000 |
| 3:121045537:T:A | donor_loss | 1.0000 |
| 3:121114924:GA:G | acceptor_gain | 1.0000 |
| 3:121114924:GAATT:G | acceptor_gain | 1.0000 |
| 3:121115055:GAACT:G | donor_gain | 1.0000 |
| 3:121115058:CT:C | donor_gain | 1.0000 |
| 3:121115060:G:GG | donor_gain | 1.0000 |
AlphaMissense
7638 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:120955012:G:T | G88W | 1.000 |
| 3:121045445:T:A | V127D | 1.000 |
| 3:121045447:A:C | S128R | 1.000 |
| 3:121045449:T:A | S128R | 1.000 |
| 3:121045449:T:G | S128R | 1.000 |
| 3:121045469:T:C | L135P | 1.000 |
| 3:121045477:T:A | W138R | 1.000 |
| 3:121045477:T:C | W138R | 1.000 |
| 3:121045517:T:C | L151P | 1.000 |
| 3:121114959:T:A | W169R | 1.000 |
| 3:121114959:T:C | W169R | 1.000 |
| 3:121114963:T:C | L170P | 1.000 |
| 3:121114969:T:A | V172D | 1.000 |
| 3:121114971:G:A | G173R | 1.000 |
| 3:121114971:G:C | G173R | 1.000 |
| 3:121114972:G:A | G173E | 1.000 |
| 3:121114983:G:A | G177R | 1.000 |
| 3:121114983:G:C | G177R | 1.000 |
| 3:121114984:G:A | G177E | 1.000 |
| 3:121114984:G:T | G177V | 1.000 |
| 3:121115040:T:A | W196R | 1.000 |
| 3:121115040:T:C | W196R | 1.000 |
| 3:121115041:G:C | W196S | 1.000 |
| 3:121115042:G:C | W196C | 1.000 |
| 3:121115042:G:T | W196C | 1.000 |
| 3:121121667:T:A | V211D | 1.000 |
| 3:121152478:T:C | L224P | 1.000 |
| 3:121152487:G:A | G227D | 1.000 |
| 3:121152499:G:T | G231V | 1.000 |
| 3:121152513:T:A | W236R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000198 (3:121311494 G>A,C), RS1000000604 (3:121083246 A>C,G), RS1000003965 (3:121224972 C>T), RS1000007809 (3:121003613 A>G,T), RS1000007839 (3:121112475 T>C), RS1000010975 (3:121155730 A>G,T), RS1000018756 (3:121401763 AGGGATAGCATT>A), RS1000019098 (3:121078645 T>C), RS1000025231 (3:121187170 G>A), RS1000030878 (3:121351473 C>T), RS1000037641 (3:121323016 C>A), RS1000037953 (3:121189653 C>A,T), RS1000038189 (3:121051847 T>A,G), RS1000038478 (3:121018456 G>A,T), RS1000042023 (3:121156080 C>G)
Disease associations
OMIM: gene MIM:609381 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001767_1 | Aging (facial) | 2.000000e-08 |
| GCST001767_2 | Aging (facial) | 6.000000e-09 |
| GCST001767_3 | Aging (facial) | 4.000000e-09 |
| GCST001767_4 | Aging (facial) | 1.000000e-09 |
| GCST002366_11 | Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) | 5.000000e-06 |
| GCST006248_4 | Response to lurasidone in schizophrenia | 2.000000e-07 |
| GCST006248_5 | Response to lurasidone in schizophrenia | 3.000000e-07 |
| GCST009191_11 | Paracentral lobule volume | 3.000000e-06 |
| GCST010396_268 | Gut microbiota (bacterial taxa, hurdle binary method) | 3.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0022597 | aging |
| EFO:0000180 | HIV-1 infection |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 6 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| quinocetone | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| Levonorgestrel | affects cotreatment, increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Magnetite Nanoparticles | 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): peripheral neuropathy