BET1L
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Also known as GS15GOLIM3
Summary
BET1L (Bet1 golgi vesicular membrane trafficking protein like, HGNC:19348) is a protein-coding gene on chromosome 11p15.5, encoding BET1-like protein (Q9NYM9). Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex.
Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma.
Source: NCBI Gene 51272 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 36 total
- MANE Select transcript:
NM_001098787
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19348 |
| Approved symbol | BET1L |
| Name | Bet1 golgi vesicular membrane trafficking protein like |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GS15, GOLIM3 |
| Ensembl gene | ENSG00000177951 |
| Ensembl biotype | protein_coding |
| OMIM | 615417 |
| Entrez | 51272 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000325147, ENST00000332865, ENST00000382762, ENST00000410108, ENST00000479463, ENST00000486280, ENST00000529614, ENST00000851020
RefSeq mRNA: 2 — MANE Select: NM_001098787
NM_001098787, NM_016526
CCDS: CCDS41582, CCDS7689
Canonical transcript exons
ENST00000382762 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001747069 | 205611 | 205667 |
| ENSE00001784479 | 202924 | 205469 |
| ENSE00003531019 | 205952 | 206043 |
| ENSE00004283420 | 207303 | 207399 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 95.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.3718 / max 150.6083, expressed in 1819 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117719 | 24.0779 | 1817 |
| 117716 | 0.4122 | 189 |
| 117715 | 0.4005 | 172 |
| 117717 | 0.3213 | 139 |
| 117718 | 0.1600 | 68 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 95.82 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.97 | gold quality |
| pituitary gland | UBERON:0000007 | 93.90 | gold quality |
| left ovary | UBERON:0002119 | 93.70 | gold quality |
| right coronary artery | UBERON:0001625 | 93.60 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.56 | gold quality |
| body of stomach | UBERON:0001161 | 93.34 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.34 | gold quality |
| endocervix | UBERON:0000458 | 93.25 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.20 | gold quality |
| ascending aorta | UBERON:0001496 | 93.15 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.13 | gold quality |
| popliteal artery | UBERON:0002250 | 93.13 | gold quality |
| tibial artery | UBERON:0007610 | 93.12 | gold quality |
| aorta | UBERON:0000947 | 93.08 | gold quality |
| right ovary | UBERON:0002118 | 92.83 | gold quality |
| right lung | UBERON:0002167 | 92.65 | gold quality |
| left uterine tube | UBERON:0001303 | 92.63 | gold quality |
| left coronary artery | UBERON:0001626 | 92.57 | gold quality |
| granulocyte | CL:0000094 | 92.47 | gold quality |
| pancreas | UBERON:0001264 | 92.34 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.27 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.25 | gold quality |
| body of uterus | UBERON:0009853 | 92.13 | gold quality |
| coronary artery | UBERON:0001621 | 92.10 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.08 | gold quality |
| transverse colon | UBERON:0001157 | 92.01 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.99 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.96 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting BET1L, 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-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
Literature-anchored findings (GeneRIF, showing 9)
- Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport. (PMID:12388752)
- single nucleotide polymorphisms in the BET1L gene is associated with uterine fibroid. (PMID:23604678)
- Meta-analysis showed a strong association at blocked early in transport 1 homolog (BET1L) rs2280543 for intramural uterine fibroid type in european americans. (PMID:23892540)
- COG sub-complexes are spatially separated on the Golgi with lobe A preferential localization on Golgi stacks and the presence of lobe B on vesicle-like structures, where it physically interacts with v-SNARE GS15. (PMID:27385402)
- both BET1L and TNRC6B contributed to the risk of UL in Chinese women (PMID:29743541)
- BET1L rs2280543 polymorphisms are associated with an increased risk of intracranial aneurysm. (PMID:31275455)
- Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS. (PMID:34310943)
- Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet. (PMID:35477381)
- Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification. (PMID:37115853)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Bet1l | ENSMUSG00000025484 |
| rattus_norvegicus | Bet1l | ENSRNOG00000013165 |
Protein
Protein identifiers
BET1-like protein — Q9NYM9 (reviewed: Q9NYM9)
Alternative names: Golgi SNARE with a size of 15 kDa, Vesicle transport protein GOS15
All UniProt accessions (6): A0A0C4DH16, B8ZZS0, E9PHY4, E9PQJ6, Q9NYM9, H7BXT7
UniProt curated annotations — full annotation on UniProt →
Function. Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex.
Subunit / interactions. Component of a SNARE complex consisting of STX5, YKT6, GOSR1 and BET1L. Interacts with STX5.
Subcellular location. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network membrane.
RefSeq proteins (2): NP_001092257, NP_057610 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000727 | T_SNARE_dom | Domain |
| IPR039899 | BET1_SNARE | Domain |
UniProt features (7 total): topological domain 2, modified residue 2, chain 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYM9-F1 | 89.02 | 0.72 |
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 (2): 9, 37
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811438 | Intra-Golgi traffic |
| 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-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 142 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_97, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MEMBRANE_FUSION, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, LANG_MYB_FAMILY_TARGETS, MODULE_182, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, AGCGCTT_MIR518F_MIR518E_MIR518A, MODULE_480, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_MEMBRANE_ORGANIZATION
GO Biological Process (4): protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147), regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156), membrane fusion (GO:0061025)
GO Molecular Function (2): SNAP receptor activity (GO:0005484), protein binding (GO:0005515)
GO Cellular Component (8): Golgi membrane (GO:0000139), endosome (GO:0005768), Golgi apparatus (GO:0005794), Golgi stack (GO:0005795), cytosol (GO:0005829), membrane (GO:0016020), SNARE complex (GO:0031201), endomembrane system (GO:0012505)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 2 |
| ER to Golgi Anterograde Transport | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 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 |
| cellular anatomical structure | 3 |
| endomembrane system | 2 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 1 |
| regulation of vesicle-mediated transport | 1 |
| membrane organization | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasmic vesicle | 1 |
| intracellular membrane-bounded organelle | 1 |
| Golgi apparatus subcompartment | 1 |
| membrane protein complex | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1102 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BET1L | VCPIP1 | Q96JH7 | 769 |
| BET1L | GOSR1 | O95249 | 755 |
| BET1L | GOSR2 | O14653 | 747 |
| BET1L | STX5 | Q13190 | 739 |
| BET1L | GOLGA2 | Q08379 | 701 |
| BET1L | YKT6 | O15498 | 695 |
| BET1L | SEC22A | Q96IW7 | 691 |
| BET1L | TNRC6B | Q9UPQ9 | 663 |
| BET1L | VCP | P55072 | 605 |
| BET1L | FAM228B | P0C875 | 591 |
| BET1L | NPLOC4 | Q8TAT6 | 589 |
| BET1L | PTPN3 | P26045 | 545 |
| BET1L | STX16 | O14662 | 508 |
| BET1L | RIC8A | Q9NPQ8 | 506 |
| BET1L | UFD1 | Q92890 | 497 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOSR2 | BET1 | psi-mi:“MI:0914”(association) | 0.810 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| STX5 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| NAPA | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| BET1L | TRAPPC12 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GORAB | BET1L | psi-mi:“MI:0915”(physical association) | 0.370 |
| VAMP5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| BET1L | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB18 | GDI2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCFD1 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| NRSN1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SEC22B | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35F3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM17 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TMEM216 | GPR89A | psi-mi:“MI:2364”(proximity) | 0.270 |
| TMEM216 | SNAP23 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BET1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TGOLN2 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| FHIP2A | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (71): BET1L (Proximity Label-MS), BET1L (Proximity Label-MS), BET1L (Affinity Capture-MS), BET1L (Proximity Label-MS), BET1L (Proximity Label-MS), BET1L (Affinity Capture-MS), BET1L (Affinity Capture-MS), BET1L (Proximity Label-MS), BET1L (Proximity Label-MS), BET1L (Affinity Capture-Western), GOSR1 (Affinity Capture-Western), STX5 (Affinity Capture-Western), YKT6 (Affinity Capture-Western), BET1L (Affinity Capture-Western), BET1L (Proximity Label-MS)
ESM2 similar proteins: A8XLW0, A8XP14, O13644, O14653, O35152, O35165, O35166, O65359, O89116, O94531, O94651, P25385, P32854, P38736, P41941, P59277, P78768, P93654, Q03322, Q04338, Q09835, Q12981, Q39233, Q54CK6, Q54IX6, Q6BVM4, Q6BZQ6, Q6CRX0, Q6FKA1, Q6QD59, Q75CY3, Q8L9S0, Q8VHI8, Q95ZW1, Q96AJ9, Q9FFK1, Q9FK28, Q9HGN3, Q9JI51, Q9LMP7
Diamond homologs: O13932, O15155, O35152, O35153, O35623, Q3MHP8, Q5RBX2, Q62896, Q68EL3, Q9M2J9, Q9NYM9, Q553P5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 |
|---|---|---|---|
| COPII-mediated vesicle transport | 6 | 48.9× | 4e-08 |
| ER to Golgi Anterograde Transport | 5 | 33.2× | 5e-06 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 6 | 31.4× | 4e-07 |
| COPI-mediated anterograde transport | 5 | 27.4× | 9e-06 |
| Transport to the Golgi and subsequent modification | 5 | 25.7× | 1e-05 |
| Membrane Trafficking | 9 | 16.7× | 4e-08 |
| Vesicle-mediated transport | 9 | 15.7× | 4e-08 |
| Asparagine N-linked glycosylation | 5 | 15.0× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 5 | 70.2× | 7e-07 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 6 | 34.0× | 8e-07 |
| intracellular protein transport | 5 | 13.5× | 4e-04 |
| protein transport | 7 | 12.8× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2258 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:193152:GCC:G | donor_gain | 1.0000 |
| 11:193155:G:GG | donor_gain | 1.0000 |
| 11:197412:AGGT:A | donor_loss | 1.0000 |
| 11:197413:GGTA:G | donor_loss | 1.0000 |
| 11:197414:G:GA | donor_loss | 1.0000 |
| 11:197414:G:GG | donor_gain | 1.0000 |
| 11:199516:G:GT | donor_gain | 1.0000 |
| 11:199517:A:T | donor_gain | 1.0000 |
| 11:199527:C:G | donor_gain | 1.0000 |
| 11:199531:GAGGG:G | donor_gain | 1.0000 |
| 11:199533:GGG:G | donor_gain | 1.0000 |
| 11:199534:GGG:G | donor_gain | 1.0000 |
| 11:205664:CGAG:C | acceptor_gain | 1.0000 |
| 11:205668:C:CC | acceptor_gain | 1.0000 |
| 11:205674:A:T | acceptor_gain | 1.0000 |
| 11:205948:TGACC:T | donor_loss | 1.0000 |
| 11:205949:GAC:G | donor_loss | 1.0000 |
| 11:205950:A:AC | donor_gain | 1.0000 |
| 11:205950:A:AG | donor_loss | 1.0000 |
| 11:205951:C:CA | donor_loss | 1.0000 |
| 11:205951:C:CC | donor_gain | 1.0000 |
| 11:206044:C:CC | acceptor_gain | 1.0000 |
| 11:197410:ACAG:A | donor_gain | 0.9900 |
| 11:197555:CCACA:C | acceptor_loss | 0.9900 |
| 11:197556:CACA:C | acceptor_loss | 0.9900 |
| 11:197559:A:AG | acceptor_gain | 0.9900 |
| 11:197559:AG:A | acceptor_gain | 0.9900 |
| 11:197559:AGG:A | acceptor_loss | 0.9900 |
| 11:197560:G:GG | acceptor_gain | 0.9900 |
| 11:197560:G:GT | acceptor_loss | 0.9900 |
AlphaMissense
730 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:205956:T:A | K36I | 0.912 |
| 11:205428:G:C | S70R | 0.909 |
| 11:205428:G:T | S70R | 0.909 |
| 11:205430:T:G | S70R | 0.909 |
| 11:205971:T:A | K31I | 0.895 |
| 11:205955:T:A | K36N | 0.881 |
| 11:205955:T:G | K36N | 0.881 |
| 11:205959:A:G | L35P | 0.880 |
| 11:205959:A:T | L35H | 0.878 |
| 11:206000:G:C | N21K | 0.878 |
| 11:206000:G:T | N21K | 0.878 |
| 11:206001:T:A | N21I | 0.871 |
| 11:205663:G:T | A39D | 0.867 |
| 11:205664:C:G | A39P | 0.867 |
| 11:205358:C:G | G94R | 0.841 |
| 11:205416:A:C | F74L | 0.841 |
| 11:205416:A:T | F74L | 0.841 |
| 11:205418:A:G | F74L | 0.841 |
| 11:206002:T:C | N21D | 0.819 |
| 11:206001:T:G | N21T | 0.817 |
| 11:205666:A:G | L38P | 0.816 |
| 11:205990:C:G | A25P | 0.808 |
| 11:205357:C:T | G94D | 0.803 |
| 11:206002:T:A | N21Y | 0.798 |
| 11:205968:A:T | V32D | 0.797 |
| 11:206002:T:G | N21H | 0.793 |
| 11:205643:C:G | A46P | 0.782 |
| 11:205954:A:G | S37P | 0.781 |
| 11:205980:A:G | L28P | 0.770 |
| 11:205654:A:T | I42N | 0.768 |
dbSNP variants (sampled 300 via entrez): RS1000026443 (11:209151 G>A), RS1000211245 (11:203704 G>C,T), RS1000463030 (11:208998 G>A,C,T), RS1000464743 (11:205470 C>G,T), RS1000586469 (11:206898 A>G), RS1000587197 (11:203921 T>C), RS1000980696 (11:207795 A>C), RS1001013272 (11:206637 T>G), RS1001192096 (11:202725 G>T), RS1001870999 (11:205754 AACAACTCTGCCAG>A), RS1002019134 (11:206392 G>A,T), RS1002359501 (11:206045 T>C,G), RS1002553365 (11:203933 G>C), RS1003025084 (11:205144 C>T), RS1003224912 (11:204087 G>A,T)
Disease associations
OMIM: gene MIM:615417 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000497_6 | Mean platelet volume | 1.000000e-14 |
| GCST001027_3 | Uterine fibroids | 4.000000e-12 |
| GCST001388_3 | Intracranial aneurysm | 3.000000e-06 |
| GCST001482_25 | Lumbar spine bone mineral density | 2.000000e-06 |
| GCST002186_8 | Platelet count | 5.000000e-12 |
| GCST004607_122 | Plateletcrit | 3.000000e-24 |
| GCST004621_19 | Red cell distribution width | 4.000000e-24 |
| GCST005992_32 | Mean corpuscular hemoglobin concentration | 3.000000e-12 |
| GCST005996_50 | Red blood cell count | 4.000000e-14 |
| GCST006011_28 | Mean corpuscular volume | 3.000000e-13 |
| GCST006462_50 | Uterine fibroids | 5.000000e-12 |
| GCST007954_6 | Glycated hemoglobin levels | 2.000000e-10 |
| GCST008423_8 | Uterine fibroids | 1.000000e-20 |
| GCST009158_1 | Uterine fibroids | 2.000000e-14 |
| GCST009822_3 | Gynecologic disease | 4.000000e-17 |
| GCST009823_2 | Gynecologic disease (multivariate analysis) | 8.000000e-16 |
| GCST009824_5 | Gynecologic disease | 3.000000e-16 |
| GCST009833_2 | Uterine fibroids (MTAG) | 4.000000e-17 |
| GCST009834_36 | Uterine fibroids | 1.000000e-21 |
| GCST010867_73 | Coronary artery disease | 2.000000e-10 |
| GCST90002395_43 | Mean platelet volume | 1.000000e-17 |
| GCST90002400_625 | Plateletcrit | 9.000000e-52 |
| GCST90002401_174 | Platelet distribution width | 1.000000e-37 |
| GCST90002404_501 | Red cell distribution width | 1.000000e-21 |
| GCST90014268_24 | Cataracts | 4.000000e-11 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0009188 | Red cell distribution width |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0004305 | erythrocyte count |
| EFO:0004541 | HbA1c measurement |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| Cyclosporine | decreases methylation, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Diazinon | increases methylation | 1 |
| Bucladesine | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ivermectin | increases expression | 1 |
| Niclosamide | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Medroxyprogesterone Acetate | affects cotreatment, increases expression | 1 |
| Thapsigargin | increases expression | 1 |
| Palmitic Acid | decreases phosphorylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Vitamin K 3 | affects 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): brain aneurysm, cataract, female reproductive system disorder, uterine corpus leiomyoma