BET1
gene geneOn this page
Also known as hbet1
Summary
BET1 (Bet1 golgi vesicular membrane trafficking protein, HGNC:14562) is a protein-coding gene on chromosome 7q21.3, encoding BET1 homolog (O15155). Required for vesicular transport from the ER to the Golgi complex. It is a selective cancer dependency (DepMap: 29.3% of cell lines).
This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10282 — RefSeq curated summary.
At a glance
- Gene–disease (curated): muscular dystrophy, congenital, with rapid progression (Moderate, GenCC)
- GWAS associations: 5
- Clinical variants (ClinVar): 24 total — 2 likely-pathogenic
- Phenotypes (HPO): 4
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 29.3% of screened cell lines
- MANE Select transcript:
NM_005868
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14562 |
| Approved symbol | BET1 |
| Name | Bet1 golgi vesicular membrane trafficking protein |
| Location | 7q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | hbet1 |
| Ensembl gene | ENSG00000105829 |
| Ensembl biotype | protein_coding |
| OMIM | 605456 |
| Entrez | 10282 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000222547, ENST00000357520, ENST00000424151, ENST00000425626, ENST00000433727, ENST00000457139, ENST00000471446, ENST00000650276
RefSeq mRNA: 2 — MANE Select: NM_005868
NM_001317739, NM_005868
CCDS: CCDS5635, CCDS83203
Canonical transcript exons
ENST00000222547 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000877332 | 93999170 | 93999294 |
| ENSE00001031680 | 93993245 | 93994385 |
| ENSE00001681690 | 94004198 | 94004355 |
| ENSE00003687222 | 93996265 | 93996321 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 94.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.9572 / max 686.9537, expressed in 1817 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84894 | 26.8634 | 1809 |
| 84893 | 7.3825 | 1715 |
| 84895 | 2.3112 | 1343 |
| 204526 | 0.4002 | 197 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 94.22 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.46 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.84 | gold quality |
| placenta | UBERON:0001987 | 92.79 | gold quality |
| pancreas | UBERON:0001264 | 92.16 | gold quality |
| endometrium | UBERON:0001295 | 92.05 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.90 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.75 | gold quality |
| monocyte | CL:0000576 | 91.69 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.64 | gold quality |
| pituitary gland | UBERON:0000007 | 91.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.40 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.30 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.21 | gold quality |
| adrenal gland | UBERON:0002369 | 91.13 | gold quality |
| mononuclear cell | CL:0000842 | 91.12 | gold quality |
| rectum | UBERON:0001052 | 90.94 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.88 | gold quality |
| leukocyte | CL:0000738 | 90.85 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.50 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.49 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.46 | gold quality |
| duodenum | UBERON:0002114 | 90.17 | gold quality |
| eye | UBERON:0000970 | 90.15 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.12 | gold quality |
| gall bladder | UBERON:0002110 | 90.08 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.94 | gold quality |
| caput epididymis | UBERON:0004358 | 89.64 | gold quality |
| ovary | UBERON:0000992 | 89.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
78 targeting BET1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 29.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- The results suggest the recruitment of Bet1 at an early stage after Membrane type 1-matrix metalloproteinase (MT1-MMP) expression promotes the exit of MT1-MMP from the endoplasmic reticulum (ER) and its efficient transport to invadopodia. (PMID:31519727)
- BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. (PMID:34779586)
- Large-scale genetic screens identify BET-1 as a cytoskeleton regulator promoting actin function and life span. (PMID:36404134)
- The distinct localizations of rsec22 and rbet1 may reflect their participation in opposite directions of membrane flow between the endoplasmic reticulum and Golgi apparatus. (PMID:8621431)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
BET1 homolog — O15155 (reviewed: O15155)
Alternative names: Golgi vesicular membrane-trafficking protein p18
All UniProt accessions (6): O15155, A0A3B3IU16, C9JTT8, H7C1N3, Q53XK0, Q68DU7
UniProt curated annotations — full annotation on UniProt →
Function. Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane.
Subunit / interactions. Interacts with SNARE complex members GOSR2, SEC22B and STX5. Interacts with LMAN1/ERGIC53. Interacts with STX17.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus. cis-Golgi network membrane. Golgi apparatus membrane.
Tissue specificity. Expressed in muscle.
Disease relevance. Muscular dystrophy, congenital, with rapid progression (MDRP) [MIM:254100] An autosomal recessive congenital disease that manifests with severely progressive muscular dystrophy, and results in death in infancy or early childhood. Clinical features include hypotonia and poor feeding, delayed motor development, progressive weakness and lethargy, and respiratory insufficiency. Some patients may have refractory epilepsy and cataracts. The disease may be caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the BET1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15155-1 | 1 | yes |
| O15155-2 | 2 |
RefSeq proteins (2): NP_001304668, NP_005859* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000727 | T_SNARE_dom | Domain |
| IPR039899 | BET1_SNARE | Domain |
UniProt features (9 total): topological domain 2, sequence variant 2, chain 1, transmembrane region 1, domain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3EGX | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15155-F1 | 83.80 | 0.58 |
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 (1): 50
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| 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-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 227 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, PUJANA_CHEK2_PCC_NETWORK, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_ORGANELLE_MEMBRANE_FUSION, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, ACATTCC_MIR1_MIR206, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION
GO Biological Process (4): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein transport (GO:0015031), vesicle fusion with Golgi apparatus (GO:0048280), vesicle-mediated transport (GO:0016192)
GO Molecular Function (2): SNAP receptor activity (GO:0005484), protein binding (GO:0005515)
GO Cellular Component (10): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cis-Golgi network (GO:0005801), membrane (GO:0016020), transport vesicle (GO:0030133), SNARE complex (GO:0031201), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 2 |
| Membrane Trafficking | 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 | 4 |
| endomembrane system | 3 |
| intracellular membrane-bounded organelle | 3 |
| Golgi vesicle transport | 2 |
| transport | 2 |
| Golgi apparatus | 2 |
| bounding membrane of organelle | 2 |
| cellular anatomical structure | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| vesicle fusion | 1 |
| Golgi organization | 1 |
| cellular process | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasmic vesicle | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1362 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BET1 | STX5 | Q13190 | 999 |
| BET1 | GOSR2 | O14653 | 998 |
| BET1 | SEC22B | O75396 | 996 |
| BET1 | SCFD1 | Q8WVM8 | 981 |
| BET1 | GOSR1 | O95249 | 969 |
| BET1 | SEC22A | Q96IW7 | 953 |
| BET1 | VAMP7 | P51809 | 952 |
| BET1 | VTI1B | Q9UEU0 | 945 |
| BET1 | VTI1A | Q96AJ9 | 908 |
| BET1 | YKT6 | O15498 | 881 |
| BET1 | SEC22C | Q9BRL7 | 871 |
| BET1 | SEC24B | O95487 | 854 |
| BET1 | STX6 | O43752 | 797 |
| BET1 | STX7 | O15400 | 758 |
| BET1 | TRAPPC3 | O43617 | 754 |
IntAct
212 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOSR2 | BET1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| GOSR2 | BET1 | psi-mi:“MI:0914”(association) | 0.810 |
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| BET1 | STX4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| STX4 | BET1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| BET1 | NSF | psi-mi:“MI:0914”(association) | 0.570 |
| BET1 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA6 | BET1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | CGRRF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | KCNJ6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | FAM210B | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | CYB561 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | CYBC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | ANKS6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (487): BET1 (Two-hybrid), BET1 (Two-hybrid), BCL2L13 (Two-hybrid), CCDC155 (Two-hybrid), FAM9B (Two-hybrid), BET1 (Affinity Capture-MS), USHBP1 (Two-hybrid), BET1 (Co-fractionation), BET1 (Co-fractionation), BET1 (Co-fractionation), USHBP1 (Affinity Capture-Western), BET1 (Proximity Label-MS), BET1 (Proximity Label-MS), BET1 (Proximity Label-MS), BET1 (Proximity Label-MS)
ESM2 similar proteins: O02495, O15155, O23429, O35623, O94651, O95183, P13701, P18489, P23763, P32867, P34351, P35589, P47192, P47193, P47194, P63024, P63025, P63026, P63027, P63044, P63045, P78768, P93654, Q04338, Q09730, Q0V7N0, Q15836, Q20574, Q27236, Q2KJD2, Q4R8T0, Q54GB3, Q5RBX2, Q60WU2, Q62442, Q62896, Q63666, Q6TMJ9, Q7XIE2, Q8VXX9
Diamond homologs: O13932, O15155, O35623, P22804, Q62896, O35152, O35153, Q3MHP8, Q5RBX2, Q68EL3, Q9M2J9, Q9NYM9, Q553P5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 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 | 5 | 15.7× | 2e-03 |
| COPI-dependent Golgi-to-ER retrograde traffic | 6 | 12.8× | 2e-03 |
| Golgi-to-ER retrograde transport | 5 | 12.8× | 3e-03 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 5 | 10.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| exocytosis | 8 | 14.5× | 2e-05 |
| response to endoplasmic reticulum stress | 5 | 9.9× | 7e-03 |
| intracellular protein transport | 9 | 6.9× | 6e-04 |
| cilium assembly | 7 | 6.1× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 148490 | GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1 | Likely pathogenic |
| 4849350 | NM_005868.6(BET1):c.213dup (p.Asp72Ter) | Likely pathogenic |
SpliceAI
392 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:93999164:ACTT:A | donor_loss | 1.0000 |
| 7:93999166:TTACA:T | donor_loss | 1.0000 |
| 7:93999167:TA:T | donor_loss | 1.0000 |
| 7:93999168:A:AC | donor_gain | 1.0000 |
| 7:93999168:A:C | donor_loss | 1.0000 |
| 7:93999169:C:A | donor_loss | 1.0000 |
| 7:93999169:C:CA | donor_gain | 1.0000 |
| 7:93999169:CA:C | donor_gain | 1.0000 |
| 7:93999169:CAG:C | donor_gain | 1.0000 |
| 7:93999169:CAGA:C | donor_gain | 1.0000 |
| 7:93999169:CAGAT:C | donor_gain | 1.0000 |
| 7:93996320:AGC:A | acceptor_loss | 0.9900 |
| 7:93996322:C:CC | acceptor_gain | 0.9900 |
| 7:93999183:G:C | donor_gain | 0.9900 |
| 7:93999292:CAC:C | acceptor_gain | 0.9900 |
| 7:93999295:C:CC | acceptor_gain | 0.9900 |
| 7:93999295:CTG:C | acceptor_loss | 0.9900 |
| 7:93999296:T:A | acceptor_loss | 0.9900 |
| 7:94004200:AGG:A | donor_gain | 0.9900 |
| 7:93996317:GAAAG:G | acceptor_gain | 0.9800 |
| 7:93996319:AAG:A | acceptor_gain | 0.9800 |
| 7:93996320:AG:A | acceptor_gain | 0.9800 |
| 7:93996321:GCTAT:G | acceptor_gain | 0.9800 |
| 7:93999162:ATACT:A | donor_loss | 0.9800 |
| 7:93999163:TACTT:T | donor_loss | 0.9800 |
| 7:93996318:AAAG:A | acceptor_gain | 0.9700 |
| 7:93996324:A:C | acceptor_gain | 0.9700 |
| 7:94004196:A:AC | donor_gain | 0.9700 |
| 7:94004197:C:CC | donor_gain | 0.9700 |
| 7:93994383:ATCCT:A | acceptor_loss | 0.9600 |
AlphaMissense
771 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:93999198:A:G | L39P | 0.999 |
| 7:93999173:T:A | K47N | 0.998 |
| 7:93999173:T:G | K47N | 0.998 |
| 7:93999174:T:A | K47I | 0.998 |
| 7:93994333:A:G | L85P | 0.997 |
| 7:93999177:A:T | I46K | 0.997 |
| 7:93999181:C:G | A45P | 0.997 |
| 7:93996318:A:G | S50P | 0.996 |
| 7:93996320:A:G | L49P | 0.996 |
| 7:93999189:T:A | K42I | 0.996 |
| 7:93994267:A:T | V107D | 0.995 |
| 7:93996308:A:T | I53K | 0.995 |
| 7:93996317:G:A | S50F | 0.995 |
| 7:93999175:T:C | K47E | 0.995 |
| 7:93999177:A:C | I46R | 0.995 |
| 7:93994354:A:G | L78P | 0.994 |
| 7:93996308:A:C | I53R | 0.994 |
| 7:93999198:A:T | L39Q | 0.994 |
| 7:93999210:A:G | L35P | 0.994 |
| 7:93996305:C:A | G54V | 0.993 |
| 7:93996317:G:T | S50Y | 0.993 |
| 7:93999172:A:G | S48P | 0.993 |
| 7:93996275:A:G | L64S | 0.992 |
| 7:93996296:A:T | V57D | 0.992 |
| 7:93999198:A:C | L39R | 0.992 |
| 7:93994285:A:T | M101K | 0.991 |
| 7:93994354:A:T | L78Q | 0.991 |
| 7:93994278:A:C | F103L | 0.990 |
| 7:93994278:A:T | F103L | 0.990 |
| 7:93994280:A:G | F103L | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000086272 (7:94000034 T>G), RS1000090132 (7:93962927 C>A,T), RS1000331236 (7:93990618 T>C), RS1000376574 (7:93988392 G>A), RS1000438265 (7:93965961 C>T), RS1000476962 (7:93996763 G>A), RS1000478256 (7:93997450 C>T), RS1000490656 (7:93990128 C>T), RS1000602234 (7:93983307 C>T), RS1000697052 (7:93978040 T>C), RS1000698751 (7:93998339 G>A), RS1000703110 (7:93990837 T>C,G), RS1000709133 (7:93989668 G>A,T), RS1000741519 (7:93984265 A>G), RS1000959072 (7:93969522 ATAGATGCTGGACTTTTCCCC>A)
Disease associations
OMIM: gene MIM:605456 | disease phenotypes: MIM:254100
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| muscular dystrophy, congenital, with rapid progression | Moderate | Autosomal recessive |
Mondo (1): muscular dystrophy, congenital, with rapid progression (MONDO:0009682)
Orphanet (0):
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001324 | Muscle weakness |
| HP:0003560 | Muscular dystrophy |
| HP:0003678 | Rapidly progressive |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001599_6 | Aging | 6.000000e-07 |
| GCST001762_557 | Obesity-related traits | 2.000000e-06 |
| GCST002915_6 | Asparaginase hypersensitivity in acute lymphoblastic leukemia | 5.000000e-06 |
| GCST003458_3 | World class endurance athleticism | 3.000000e-06 |
| GCST006719_4 | BRCA1/2-negative high-risk breast cancer | 1.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0022597 | aging |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0004881 | asparaginase hypersensitivity |
| EFO:0007818 | athletic endurance measurement |
| EFO:0009443 | BRCAX breast cancer |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564983 | Muscular Dystrophy, Congenital, with Rapid Progression (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291676 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.37 | EC50 | 430 | nM | CHEMBL5287110 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| [2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl] N-[4-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]butyl]carbamate | 1928089: PROTAC activity at dBET1/CRBN in human SUM149 cells measured after 18 hrs | ec50 | 0.4300 | uM |
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| bisphenol A | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-methoxycinnamate methyl ester | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Progesterone | increases expression | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5231273 | Binding | PROTAC activity at dBET1/CRBN in human SUM149 cells measured after 18 hrs | Recent advances in epigenetic proteolysis targeting chimeras (Epi-PROTACs). — Eur J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: muscular dystrophy, congenital, with rapid progression
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): muscular dystrophy, congenital, with rapid progression