CBARP
geneOn this page
Also known as MGC40084DOSBARP
Summary
CBARP (CACN subunit beta associated regulatory protein, HGNC:28617) is a protein-coding gene on chromosome 19p13.3, encoding Voltage-dependent calcium channel beta subunit-associated regulatory protein (Q8N350). Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits.
Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in growth cone and secretory granule. Predicted to be active in plasma membrane.
Source: NCBI Gene 255057 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 43 total — 1 pathogenic
- MANE Select transcript:
NM_001393918
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28617 |
| Approved symbol | CBARP |
| Name | CACN subunit beta associated regulatory protein |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC40084, DOS, BARP |
| Ensembl gene | ENSG00000099625 |
| Ensembl biotype | protein_coding |
| Entrez | 255057 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000215376, ENST00000382477, ENST00000589260, ENST00000590083, ENST00000591127, ENST00000648750, ENST00000650044, ENST00000917007, ENST00000942888, ENST00000942889, ENST00000942890
RefSeq mRNA: 2 — MANE Select: NM_001393918
NM_001393918, NM_152769
CCDS: CCDS12057, CCDS92477
Canonical transcript exons
ENST00000650044 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000651449 | 1234191 | 1234331 |
| ENSE00000795123 | 1234571 | 1234742 |
| ENSE00000795124 | 1235001 | 1235145 |
| ENSE00000795125 | 1235779 | 1235918 |
| ENSE00003575046 | 1233426 | 1233636 |
| ENSE00003588315 | 1231101 | 1231275 |
| ENSE00003712864 | 1235501 | 1235565 |
| ENSE00003832605 | 1228287 | 1230142 |
| ENSE00003839343 | 1235996 | 1236121 |
| ENSE00003930470 | 1237756 | 1238005 |
Expression profiles
Bgee: expression breadth ubiquitous, 182 present calls, max score 88.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6995 / max 138.6809, expressed in 1439 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178000 | 3.7499 | 1292 |
| 177998 | 1.6465 | 492 |
| 177999 | 1.2019 | 576 |
| 177995 | 0.1012 | 55 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 88.04 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.51 | gold quality |
| pituitary gland | UBERON:0000007 | 86.45 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.86 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 84.77 | gold quality |
| cingulate cortex | UBERON:0003027 | 83.51 | gold quality |
| putamen | UBERON:0001874 | 83.40 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 83.36 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.32 | silver quality |
| cortical plate | UBERON:0005343 | 83.19 | gold quality |
| neocortex | UBERON:0001950 | 82.22 | gold quality |
| frontal cortex | UBERON:0001870 | 82.10 | gold quality |
| frontal lobe | UBERON:0016525 | 82.07 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.03 | gold quality |
| amygdala | UBERON:0001876 | 81.07 | gold quality |
| sperm | CL:0000019 | 80.94 | silver quality |
| telencephalon | UBERON:0001893 | 80.87 | gold quality |
| forebrain | UBERON:0001890 | 80.79 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.53 | gold quality |
| cerebral cortex | UBERON:0000956 | 80.47 | gold quality |
| ventricular zone | UBERON:0003053 | 79.72 | gold quality |
| Ammon’s horn | UBERON:0001954 | 79.53 | gold quality |
| brain | UBERON:0000955 | 79.15 | gold quality |
| temporal lobe | UBERON:0001871 | 78.96 | gold quality |
| central nervous system | UBERON:0001017 | 78.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.59 | gold quality |
| male germ cell | CL:0000015 | 78.37 | silver quality |
| primary visual cortex | UBERON:0002436 | 78.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting CBARP, 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-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-19B-1-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-19B-2-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-3189-5P | 97.55 | 66.71 | 655 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-1288-3P | 96.86 | 66.95 | 536 |
| HSA-MIR-1287-5P | 96.80 | 65.30 | 743 |
| HSA-MIR-4515 | 95.70 | 65.73 | 716 |
| HSA-MIR-10396B-5P | 94.99 | 63.57 | 358 |
| HSA-MIR-1908-5P | 94.99 | 63.41 | 352 |
| HSA-MIR-663A | 94.99 | 63.54 | 378 |
| HSA-MIR-6727-5P | 92.41 | 61.98 | 83 |
| HSA-MIR-4258 | 90.68 | 62.19 | 164 |
| HSA-MIR-4508 | 90.37 | 59.62 | 240 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cbarpb | ENSDARG00000071325 |
| mus_musculus | Cbarp | ENSMUSG00000035640 |
| rattus_norvegicus | Cbarp | ENSRNOG00000024349 |
Protein
Protein identifiers
Voltage-dependent calcium channel beta subunit-associated regulatory protein — Q8N350 (reviewed: Q8N350)
All UniProt accessions (4): Q8N350, A0A140LJL2, A0A3B3IRU5, K7ELJ5
UniProt curated annotations — full annotation on UniProt →
Function. Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis.
Subunit / interactions. Interacts with voltage-dependent calcium channels CACNB1, CACNB2, CACNB3 and CACNB4 beta subunits; prevents their interaction with the CACNA1C alpha subunit thereby negatively regulating the activity of the corresponding calcium channels.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Cell membrane. Cell projection. Growth cone.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N350-3 | 1 | yes |
| Q8N350-4 | 2 |
RefSeq proteins (2): NP_001380847, NP_689982 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR037658 | CBARP | Family |
UniProt features (32 total): compositionally biased region 9, modified residue 8, region of interest 6, topological domain 2, splice variant 2, sequence conflict 2, chain 1, transmembrane region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N350-F1 | 52.23 | 0.05 |
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 (8): 299, 304, 507, 528, 621, 698, 699, 703
Glycosylation sites (1): 29
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 100 (showing top):
MORF_RAGE, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORTER_ACTIVITY, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_REGULATION_OF_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_EXOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS
GO Biological Process (3): negative regulation of calcium ion-dependent exocytosis (GO:0045955), negative regulation of voltage-gated calcium channel activity (GO:1901386), negative regulation of calcium ion transmembrane transport (GO:1903170)
GO Molecular Function (2): transmembrane transporter binding (GO:0044325), protein binding (GO:0005515)
GO Cellular Component (8): plasma membrane (GO:0005886), secretory granule (GO:0030141), growth cone (GO:0030426), synaptic vesicle membrane (GO:0030672), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| calcium-ion regulated exocytosis | 1 |
| regulation of calcium ion-dependent exocytosis | 1 |
| negative regulation of regulated secretory pathway | 1 |
| voltage-gated calcium channel activity | 1 |
| negative regulation of calcium ion transmembrane transporter activity | 1 |
| regulation of voltage-gated calcium channel activity | 1 |
| negative regulation of calcium ion transport | 1 |
| calcium ion transmembrane transport | 1 |
| regulation of calcium ion transmembrane transport | 1 |
| negative regulation of cation transmembrane transport | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endomembrane system | 1 |
| secretory vesicle | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
374 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CBARP | FAM174C | Q9BVV8 | 544 |
| CBARP | CLRN3 | Q8NCR9 | 491 |
| CBARP | FSIP2 | Q5CZC0 | 456 |
| CBARP | CRABP2 | P29373 | 419 |
| CBARP | GHITM | Q9H3K2 | 415 |
| CBARP | SBNO2 | Q9Y2G9 | 396 |
| CBARP | C19orf25 | Q9UFG5 | 395 |
| CBARP | R3HDM4 | Q96D70 | 393 |
| CBARP | RMDN2 | Q96LZ7 | 379 |
| CBARP | ANKMY1 | Q9P2S6 | 370 |
| CBARP | QRICH2 | Q9H0J4 | 368 |
| CBARP | MAF1 | Q9H063 | 367 |
| CBARP | H7C0V5 | H7C0V5 | 349 |
| CBARP | CIMAP1D | Q3SX64 | 316 |
| CBARP | NR1I3 | Q14994 | 316 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| CACNB1 | CACNB3 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| STARD3 | CBARP | psi-mi:“MI:0915”(physical association) | 0.590 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| CACNB3 | CACNB4 | psi-mi:“MI:0914”(association) | 0.530 |
| CACNB3 | CACNB2 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| CBARP | PKM | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| FADS3 | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNB3 | PLCG1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMC6 | PXK | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAZ | SPEG | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAZ | HECTD4 | psi-mi:“MI:0914”(association) | 0.350 |
| CBARP | BIN1 | psi-mi:“MI:0914”(association) | 0.350 |
| FADS3 | PEX7 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP55 | SRC | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (98): C19orf26 (Affinity Capture-MS), C19orf26 (Proximity Label-MS), C19orf26 (Proximity Label-MS), C19orf26 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), C19orf26 (Proximity Label-MS), C19orf26 (Proximity Label-MS), C19orf26 (Proximity Label-MS), C19orf26 (Two-hybrid), C19orf26 (Two-hybrid), C19orf26 (Two-hybrid)
ESM2 similar proteins: A2A699, A2A9T0, A2AEV7, A2AJA9, A6NKL6, A6NL88, A7MCY6, A8MVW0, C9J069, E9PZZ1, J3QNX5, O14492, O14511, O15169, O35615, O43541, O94983, P0C7U0, Q02779, Q03484, Q148V8, Q3SX20, Q5BJT1, Q5JTD0, Q5JU85, Q63HR2, Q66H43, Q66L44, Q69YU3, Q6DG50, Q6PDH0, Q6R6L0, Q6ZRV2, Q75VX8, Q7TN12, Q80VC9, Q80Y50, Q86UU1, Q8C3Q5, Q8C8T7
Diamond homologs: Q66L44, Q8N350
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 144.0× | 3e-12 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 127.1× | 4e-12 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 127.1× | 4e-12 |
| Activation of BH3-only proteins | 7 | 93.9× | 4e-11 |
| RHO GTPases activate PKNs | 7 | 60.0× | 9e-10 |
| Intrinsic Pathway for Apoptosis | 7 | 55.4× | 1e-09 |
| FOXO-mediated transcription | 5 | 45.4× | 1e-06 |
| NCAM signaling for neurite out-growth | 6 | 44.1× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of heart rate by cardiac conduction | 7 | 55.8× | 1e-08 |
| protein targeting | 5 | 39.0× | 4e-05 |
| intracellular protein localization | 7 | 15.6× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 60067 | GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1 | Pathogenic |
SpliceAI
1691 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:1231276:CTGC:C | acceptor_loss | 1.0000 |
| 19:1234201:T:TA | donor_gain | 1.0000 |
| 19:1234202:C:A | donor_gain | 1.0000 |
| 19:1234566:CTCA:C | donor_loss | 1.0000 |
| 19:1234567:TCACC:T | donor_loss | 1.0000 |
| 19:1234568:CACC:C | donor_loss | 1.0000 |
| 19:1234741:ACCTG:A | acceptor_loss | 1.0000 |
| 19:1234743:CTG:C | acceptor_loss | 1.0000 |
| 19:1234744:T:G | acceptor_loss | 1.0000 |
| 19:1234995:GCTTA:G | donor_loss | 1.0000 |
| 19:1234998:TACC:T | donor_loss | 1.0000 |
| 19:1234999:A:AC | donor_gain | 1.0000 |
| 19:1235000:C:CA | donor_gain | 1.0000 |
| 19:1235915:CTGC:C | acceptor_gain | 1.0000 |
| 19:1235916:TGC:T | acceptor_gain | 1.0000 |
| 19:1235917:GC:G | acceptor_gain | 1.0000 |
| 19:1235918:CC:C | acceptor_gain | 1.0000 |
| 19:1235919:C:CC | acceptor_gain | 1.0000 |
| 19:1235923:G:T | acceptor_gain | 1.0000 |
| 19:1236005:T:TA | donor_gain | 1.0000 |
| 19:1236122:CT:C | acceptor_loss | 1.0000 |
| 19:1231180:A:AC | donor_gain | 0.9900 |
| 19:1231181:C:CC | donor_gain | 0.9900 |
| 19:1231276:C:CC | acceptor_gain | 0.9900 |
| 19:1233035:C:T | acceptor_gain | 0.9900 |
| 19:1233421:CTCA:C | donor_loss | 0.9900 |
| 19:1233422:TCA:T | donor_loss | 0.9900 |
| 19:1233423:CACCT:C | donor_loss | 0.9900 |
| 19:1233425:C:CG | donor_loss | 0.9900 |
| 19:1233425:CCT:C | donor_gain | 0.9900 |
AlphaMissense
4516 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:1234710:A:G | L163P | 0.999 |
| 19:1234718:G:C | F160L | 0.999 |
| 19:1234718:G:T | F160L | 0.999 |
| 19:1234719:A:C | F160C | 0.999 |
| 19:1234719:A:G | F160S | 0.999 |
| 19:1234720:A:G | F160L | 0.999 |
| 19:1234706:C:A | K164N | 0.998 |
| 19:1234706:C:G | K164N | 0.998 |
| 19:1234734:A:G | L155P | 0.998 |
| 19:1229638:G:C | F553L | 0.997 |
| 19:1229638:G:T | F553L | 0.997 |
| 19:1229640:A:G | F553L | 0.997 |
| 19:1229788:A:C | S503R | 0.997 |
| 19:1229788:A:T | S503R | 0.997 |
| 19:1229790:T:G | S503R | 0.997 |
| 19:1229792:T:A | D502V | 0.997 |
| 19:1229794:C:A | M501I | 0.997 |
| 19:1229794:C:G | M501I | 0.997 |
| 19:1229794:C:T | M501I | 0.997 |
| 19:1229985:A:G | W438R | 0.997 |
| 19:1229985:A:T | W438R | 0.997 |
| 19:1233439:A:C | S322R | 0.997 |
| 19:1233439:A:T | S322R | 0.997 |
| 19:1233441:T:G | S322R | 0.997 |
| 19:1234722:T:C | D159G | 0.997 |
| 19:1229639:A:G | F553S | 0.996 |
| 19:1229776:G:C | S507R | 0.996 |
| 19:1229776:G:T | S507R | 0.996 |
| 19:1229778:T:G | S507R | 0.996 |
| 19:1229784:A:G | Y505H | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000315192 (19:1239080 A>C), RS1000358125 (19:1231757 C>T), RS1000418666 (19:1233882 G>A,C), RS1000420642 (19:1235322 C>A,G,T), RS1000505074 (19:1237165 G>A,C), RS1000533316 (19:1238151 G>A,C), RS1000599570 (19:1236675 C>T), RS1000758309 (19:1234522 G>A), RS1001025438 (19:1232992 C>A,T), RS1001561230 (19:1232791 C>G,T), RS1001634165 (19:1230833 C>G,T), RS1001742962 (19:1228067 T>C), RS1001807842 (19:1233179 G>A,C), RS1001854927 (19:1230164 C>CA), RS1001923681 (19:1237634 C>A,T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:175200
GenCC curated gene-disease
Mondo (1): Peutz-Jeghers syndrome (MONDO:0008280)
Orphanet (1): Peutz-Jeghers syndrome (Orphanet:2869)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D010580 | Peutz-Jeghers Syndrome | C04.700.633; C06.405.469.578.750; C16.320.700.667; C17.800.621.430.530.550.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2301759 | CBARP | 0.00 | 0 |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases methylation, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Allergens | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
16 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03781050 | PHASE4 | UNKNOWN | Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome |
| NCT06001476 | PHASE4 | UNKNOWN | Cold Snare Polypectomy for Small Bowel Polyps in Patients With Peutz-Jeghers Syndrome |
| NCT02000089 | PHASE3 | RECRUITING | The Cancer of the Pancreas Screening-5 CAPS5)Study |
| NCT00811590 | PHASE2 | TERMINATED | Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome |
| NCT01178151 | PHASE2 | WITHDRAWN | Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome |
| NCT00001452 | Not specified | COMPLETED | Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex |
| NCT00438906 | Not specified | COMPLETED | Cancer of the Pancreas Screening Study (CAPS 3) |
| NCT00633607 | Not specified | COMPLETED | Hereditary Colorectal and Associated Tumor Registry Study |
| NCT02206360 | Not specified | ACTIVE_NOT_RECRUITING | Pancreatic Cancer Early Detection Program |
| NCT03050268 | Not specified | RECRUITING | Familial Investigations of Childhood Cancer Predisposition |
| NCT03806075 | Not specified | UNKNOWN | Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome |
| NCT04095195 | Not specified | RECRUITING | Registry of Subjects at Risk of Pancreatic Cancer |
| NCT05692596 | Not specified | ACTIVE_NOT_RECRUITING | The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics |
| NCT06163365 | Not specified | UNKNOWN | Inherited Cancer Early Diagnosis (ICED) Study |
| NCT06242457 | Not specified | COMPLETED | Poorly Differentiated Adenocarcinoma of the Jejunum in a Patient With Peutz-Jeghers Syndrome: A Case Report |
| NCT06722534 | Not specified | RECRUITING | Celecoxib for Prevention of Progression in Peutz-Jeghers Syndrome |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Peutz-Jeghers syndrome