CADPS
gene geneOn this page
Also known as CAPSKIAA1121CAPS1UNC-31CADPS1
Summary
CADPS (calcium dependent secretion activator, HGNC:1426) is a protein-coding gene on chromosome 3p14.2, encoding Calcium-dependent secretion activator 1 (Q9ULU8). Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides.
This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described.
Source: NCBI Gene 8618 — RefSeq curated summary.
At a glance
- GWAS associations: 30
- Clinical variants (ClinVar): 204 total — 1 likely-pathogenic
- MANE Select transcript:
NM_003716
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1426 |
| Approved symbol | CADPS |
| Name | calcium dependent secretion activator |
| Location | 3p14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CAPS, KIAA1121, CAPS1, UNC-31, CADPS1 |
| Ensembl gene | ENSG00000163618 |
| Ensembl biotype | protein_coding |
| OMIM | 604667 |
| Entrez | 8618 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 16 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000283269, ENST00000357948, ENST00000383710, ENST00000462768, ENST00000463002, ENST00000466621, ENST00000468271, ENST00000469292, ENST00000473635, ENST00000474560, ENST00000478408, ENST00000478434, ENST00000478570, ENST00000486172, ENST00000490353, ENST00000490424, ENST00000491424, ENST00000542833, ENST00000612439, ENST00000935174, ENST00000951692, ENST00000951693, ENST00000951694, ENST00000951695, ENST00000951696
RefSeq mRNA: 3 — MANE Select: NM_003716
NM_003716, NM_183393, NM_183394
CCDS: CCDS2898, CCDS2899, CCDS46858
Canonical transcript exons
ENST00000383710 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001076605 | 62438104 | 62438211 |
| ENSE00001076644 | 62516580 | 62516643 |
| ENSE00001256365 | 62536445 | 62536581 |
| ENSE00001256496 | 62592637 | 62592748 |
| ENSE00001256652 | 62650847 | 62651080 |
| ENSE00001256674 | 62765871 | 62765984 |
| ENSE00001343731 | 62499162 | 62499268 |
| ENSE00001343741 | 62549903 | 62550115 |
| ENSE00001343746 | 62570872 | 62570938 |
| ENSE00001343748 | 62585185 | 62585324 |
| ENSE00001343752 | 62645722 | 62645843 |
| ENSE00001343758 | 62753441 | 62753773 |
| ENSE00001409551 | 62532871 | 62533058 |
| ENSE00001498232 | 62481723 | 62481869 |
| ENSE00001498233 | 62493645 | 62493665 |
| ENSE00002236851 | 62874589 | 62875416 |
| ENSE00002314502 | 62445765 | 62445797 |
| ENSE00002336454 | 62518149 | 62518250 |
| ENSE00002368455 | 62557405 | 62557513 |
| ENSE00002397916 | 62516059 | 62516182 |
| ENSE00002404962 | 62662314 | 62662394 |
| ENSE00002409408 | 62512751 | 62512768 |
| ENSE00003474363 | 62403081 | 62403185 |
| ENSE00003476361 | 62492290 | 62492446 |
| ENSE00003480325 | 62398348 | 62399585 |
| ENSE00003483629 | 62478261 | 62478416 |
| ENSE00003496834 | 62466339 | 62466413 |
| ENSE00003609118 | 62474173 | 62474320 |
| ENSE00003669388 | 62465367 | 62465450 |
| ENSE00003786871 | 62491339 | 62491480 |
Expression profiles
Bgee: expression breadth ubiquitous, 201 present calls, max score 97.91.
FANTOM5 (CAGE): breadth broad, TPM avg 7.8378 / max 258.8939, expressed in 524 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42820 | 6.4342 | 484 |
| 42819 | 0.5132 | 185 |
| 42816 | 0.5109 | 207 |
| 42821 | 0.1323 | 84 |
| 42818 | 0.1317 | 86 |
| 42817 | 0.1154 | 69 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pons | UBERON:0000988 | 97.91 | gold quality |
| cortical plate | UBERON:0005343 | 97.87 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.74 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.08 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.79 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.13 | gold quality |
| frontal cortex | UBERON:0001870 | 96.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.80 | gold quality |
| cerebellum | UBERON:0002037 | 95.70 | gold quality |
| neocortex | UBERON:0001950 | 95.65 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.55 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.49 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.48 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.35 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.32 | gold quality |
| hypothalamus | UBERON:0001898 | 95.14 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.11 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.97 | gold quality |
| pituitary gland | UBERON:0000007 | 94.85 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 94.79 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.53 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.34 | gold quality |
| parietal lobe | UBERON:0001872 | 94.33 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.98 | gold quality |
| brain | UBERON:0000955 | 93.98 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.98 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.91 | gold quality |
| forebrain | UBERON:0001890 | 93.87 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11268 | yes | 2016.74 |
| E-GEOD-180759 | yes | 1906.73 |
| E-MTAB-7316 | yes | 1713.44 |
| E-MTAB-11121 | yes | 1633.94 |
| E-GEOD-137537 | yes | 1386.82 |
| E-HCAD-25 | yes | 1296.03 |
| E-HCAD-35 | yes | 1210.32 |
| E-MTAB-5061 | yes | 13.57 |
| E-ANND-3 | yes | 9.07 |
| E-GEOD-125970 | yes | 6.91 |
| E-CURD-46 | yes | 4.74 |
| E-GEOD-83139 | yes | 4.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting CADPS, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
Literature-anchored findings (GeneRIF, showing 8)
- Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS). (PMID:15857609)
- Increased level of CADPS protein, human in Schizophrenic patients (PMID:21601610)
- Loss of CADPS is associated with central nervous system primitive neuroectodermal tumor. (PMID:21798848)
- the preferential binding of CAPS1 to open syntaxin-1 can contribute to the stabilization of the open state of syntaxin-1 during its transition from “closed” state to the SNARE complex formation. (PMID:23801330)
- CAPS1 promotes colorectal cancer metastasis through PI3K/Akt/GSK3beta/Snail signal pathway-mediated epithelial mesenchymal transformation process (PMID:30742066)
- CAPS1 Suppresses Tumorigenesis in Cholangiocarcinoma. (PMID:31562609)
- Study revealed that CAPS1 promoted normal colonic epithelial FHC cells migration by altering the protein expression profile of exosomes derived from colorectal cancer cells cells. GW4869, an exosome inhibitor, inhibited CAPS1-induced cell migration. (PMID:31638236)
- CADPS functional mutations in patients with bipolar disorder increase the sensitivity to stress. (PMID:35169262)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Calcium-dependent secretion activator 1 — Q9ULU8 (reviewed: Q9ULU8)
Alternative names: Calcium-dependent activator protein for secretion 1
All UniProt accessions (7): Q9ULU8, F1T0E5, H0YFP0, H7C4K9, H7C4P2, H7C4T6, H7C538
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in small clear synaptic vesicles (SVs) exocytosis and it is unclear whether its function is related to Ca(2+) triggering.
Subunit / interactions. Homodimer. Interacts with RASL10B. Interacts with the dopamine receptor DRD2.
Subcellular location. Synapse. Cytoplasmic vesicle. Secretory vesicle. Neuronal dense core vesicle membrane.
Tissue specificity. Specifically expressed in neural and endocrine secretory tissues. Expressed in brain and pancreas and at low level in heart. Also expressed in fetal heart, cerebellum, cerebral cortex, medulla, occipital pole, frontal and temporal lobes, and putamen, as well as weak expression in spinal cord.
Domain organisation. The PH domain is essential for regulated exocytosis and binds phospholipids and plasma membrane. It however does not mediate binding to DCVs.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULU8-1 | 1 | yes |
| Q9ULU8-2 | 2 | |
| Q9ULU8-3 | 3 | |
| Q9ULU8-4 | 4 | |
| Q9ULU8-5 | 5 |
RefSeq proteins (3): NP_003707, NP_899630, NP_899631 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR001849 | PH_domain | Domain |
| IPR010439 | MUN_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR014770 | Munc13_1 | Domain |
| IPR033227 | CAPS | Family |
| IPR057457 | CAPS_C2 | Domain |
Pfam: PF00169, PF06292, PF25341
UniProt features (40 total): strand 9, splice variant 8, sequence conflict 7, modified residue 4, region of interest 4, domain 3, compositionally biased region 3, chain 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WI1 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULU8-F1 | 79.13 | 0.43 |
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 (4): 34, 91, 98, 261
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 293 (showing top):
AAGCAAT_MIR137, GOBP_VESICLE_LOCALIZATION, GOCC_SECRETORY_GRANULE, GCANCTGNY_MYOD_Q6, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, MODULE_563, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT, AP4_Q6, CERVERA_SDHB_TARGETS_1_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, FOXO4_01, FOXO1_01, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5
GO Biological Process (5): exocytosis (GO:0006887), protein transport (GO:0015031), synaptic vesicle exocytosis (GO:0016079), positive regulation of exocytosis (GO:0045921), dense core granule exocytosis (GO:1990504)
GO Molecular Function (4): lipid binding (GO:0008289), protein kinase binding (GO:0019901), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (9): cytosol (GO:0005829), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), neuronal dense core vesicle membrane (GO:0099012), endomembrane system (GO:0012505), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| binding | 2 |
| cytoplasm | 2 |
| synapse | 2 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| neurotransmitter secretion | 1 |
| regulated exocytosis | 1 |
| establishment of localization in cell | 1 |
| presynapse | 1 |
| vesicle-mediated transport in synapse | 1 |
| synaptic vesicle cycle | 1 |
| signal release from synapse | 1 |
| exocytosis | 1 |
| regulation of exocytosis | 1 |
| positive regulation of secretion by cell | 1 |
| calcium-ion regulated exocytosis | 1 |
| dense core granule localization | 1 |
| establishment of vesicle localization | 1 |
| kinase binding | 1 |
| cation binding | 1 |
| dense core granule membrane | 1 |
| neuronal dense core vesicle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1524 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CADPS | UNC13B | O14795 | 826 |
| CADPS | RASL10B | Q96S79 | 826 |
| CADPS | PI4KB | P78405 | 814 |
| CADPS | NCS1 | P36610 | 789 |
| CADPS | POM121 | Q96HA1 | 747 |
| CADPS | KCND1 | Q9NSA2 | 649 |
| CADPS | VSNL1 | P28677 | 649 |
| CADPS | IL1RAPL1 | Q9NZN1 | 636 |
| CADPS | STXBP1 | P61764 | 572 |
| CADPS | KCNC1 | P48547 | 570 |
| CADPS | IGDCC3 | Q8IVU1 | 570 |
| CADPS | KCND2 | Q9NZV8 | 561 |
| CADPS | RCVRN | P35243 | 542 |
| CADPS | UNC119 | Q13432 | 522 |
| CADPS | STXBP5 | Q5T5C0 | 501 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHMP2B | CADPS | psi-mi:“MI:0915”(physical association) | 0.400 |
| CADPS | TCL1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIAA1549 | CADPS | psi-mi:“MI:0915”(physical association) | 0.370 |
| CADPS | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPM6A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| CADPS | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| CADPS | CLIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC5 | CADPS | psi-mi:“MI:2364”(proximity) | 0.270 |
| DISC1 | CADPS | psi-mi:“MI:0915”(physical association) | 0.000 |
| EXOC1 | CADPS | psi-mi:“MI:0915”(physical association) | 0.000 |
| TTC3 | CADPS | psi-mi:“MI:0915”(physical association) | 0.000 |
| DSCAM | CADPS | psi-mi:“MI:0915”(physical association) | 0.000 |
| CADPS | LUC7L2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PIP5K1A | CADPS | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (69): CADPS (Two-hybrid), CADPS (Two-hybrid), C19orf66 (Two-hybrid), FAM161A (Two-hybrid), ZNF572 (Two-hybrid), FAM9B (Two-hybrid), TTLL10 (Two-hybrid), C17orf67 (Two-hybrid), CLIP1 (Affinity Capture-MS), CLIP1 (Affinity Capture-MS), CADPS (Two-hybrid), DNAJC5 (FRET), CADPS (Two-hybrid), CADPS (Two-hybrid), CADPS (Two-hybrid)
ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2BDA5, A3KGS3, A8E4X8, D3ZXK7, F1R7R1, O75129, P21359, P51593, P97526, Q04690, Q1JPG0, Q2PPJ7, Q3SZD5, Q4QQM5, Q4R5A4, Q5RC14, Q5XPI3, Q5XPI4, Q62717, Q66K64, Q6GLR7, Q6NXD8, Q6P4S8, Q6PFH3, Q6VNB8, Q7L4E1, Q7TMY8, Q7Z6Z7, Q80TJ1, Q86UW7, Q8BHR8, Q8BK03, Q8BYR5, Q8CDG3, Q8CF97, Q8CID0, Q8IY22, Q8IZQ1
Diamond homologs: Q23658, Q60PC0, Q62717, Q6GLR7, Q80TJ1, Q86UW7, Q8BYR5, Q9NHE5, Q9ULU8
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “phosphatidylinositol bisphosphate” | “up-regulates activity” | CADPS | “chemical activation” |
| CADPS | “up-regulates activity” | STX1A | binding |
| CADPS | “up-regulates activity” | SNAP25 | binding |
| CADPS | “up-regulates activity” | VAMP2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
204 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 150 |
| Likely benign | 31 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 442399 | GRCh37/hg19 3p14.2-14.1(chr3:60526226-63742930)x1 | Likely pathogenic |
SpliceAI
7305 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:5914383:A:AG | acceptor_gain | 1.0000 |
| 19:5914383:AGCT:A | acceptor_gain | 1.0000 |
| 19:5914384:G:GA | acceptor_gain | 1.0000 |
| 19:5914384:GC:G | acceptor_gain | 1.0000 |
| 19:5914384:GCT:G | acceptor_gain | 1.0000 |
| 19:5914384:GCTG:G | acceptor_gain | 1.0000 |
| 19:5914384:GCTGC:G | acceptor_gain | 1.0000 |
| 19:5914486:CCAGG:C | donor_loss | 1.0000 |
| 19:5914487:CAGG:C | donor_loss | 1.0000 |
| 19:5914488:AGGTG:A | donor_loss | 1.0000 |
| 19:5914489:GGTG:G | donor_loss | 1.0000 |
| 19:5914490:GTG:G | donor_loss | 1.0000 |
| 19:5914491:T:A | donor_loss | 1.0000 |
| 19:5914680:G:GT | donor_gain | 1.0000 |
| 19:5915134:G:GT | donor_gain | 1.0000 |
| 19:5915138:G:GT | donor_gain | 1.0000 |
| 3:62399581:GTTTT:G | acceptor_gain | 1.0000 |
| 3:62399582:TTTT:T | acceptor_gain | 1.0000 |
| 3:62399583:TTT:T | acceptor_gain | 1.0000 |
| 3:62399584:TT:T | acceptor_gain | 1.0000 |
| 3:62399586:C:CC | acceptor_gain | 1.0000 |
| 3:62399587:T:C | acceptor_loss | 1.0000 |
| 3:62438098:ACT:A | donor_loss | 1.0000 |
| 3:62438099:CTT:C | donor_loss | 1.0000 |
| 3:62438100:TTACA:T | donor_loss | 1.0000 |
| 3:62438101:TAC:T | donor_loss | 1.0000 |
| 3:62438102:A:AC | donor_gain | 1.0000 |
| 3:62438102:A:C | donor_loss | 1.0000 |
| 3:62438102:ACAT:A | donor_gain | 1.0000 |
| 3:62438103:C:CG | donor_gain | 1.0000 |
AlphaMissense
8965 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:62478343:A:G | W1083R | 1.000 |
| 3:62478343:A:T | W1083R | 1.000 |
| 3:62491352:A:G | W1005R | 1.000 |
| 3:62491352:A:T | W1005R | 1.000 |
| 3:62491405:A:G | L987P | 1.000 |
| 3:62492341:A:G | W945R | 1.000 |
| 3:62492341:A:T | W945R | 1.000 |
| 3:62516590:A:G | L816P | 1.000 |
| 3:62518149:C:A | R798M | 1.000 |
| 3:62532877:C:T | G762E | 1.000 |
| 3:62532887:G:C | H759D | 1.000 |
| 3:62532897:G:C | F755L | 1.000 |
| 3:62532897:G:T | F755L | 1.000 |
| 3:62532898:A:G | F755S | 1.000 |
| 3:62532899:A:G | F755L | 1.000 |
| 3:62532901:G:T | A754D | 1.000 |
| 3:62532906:G:C | S752R | 1.000 |
| 3:62532906:G:T | S752R | 1.000 |
| 3:62532908:T:G | S752R | 1.000 |
| 3:62532914:G:C | H750D | 1.000 |
| 3:62533042:C:T | G707D | 1.000 |
| 3:62533043:C:G | G707R | 1.000 |
| 3:62533045:G:T | P706H | 1.000 |
| 3:62533047:A:C | S705R | 1.000 |
| 3:62533047:A:T | S705R | 1.000 |
| 3:62533049:T:G | S705R | 1.000 |
| 3:62533055:A:G | W703R | 1.000 |
| 3:62533055:A:T | W703R | 1.000 |
| 3:62533057:C:T | G702D | 1.000 |
| 3:62533058:C:G | G702R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000014076 (3:62836495 A>G), RS1000018175 (3:62398828 T>A), RS1000019406 (3:62509567 A>C), RS1000020397 (3:62871120 C>A,T), RS1000023063 (3:62477859 G>A), RS1000026559 (3:62754260 C>T), RS1000026983 (3:62519503 A>G), RS1000031046 (3:62681978 T>G), RS1000039258 (3:62744693 T>C), RS1000061918 (3:62609834 A>G), RS1000072623 (3:62797179 C>A), RS1000073373 (3:62487315 A>C), RS1000073594 (3:62791211 T>A), RS1000081093 (3:62430560 G>C), RS1000082091 (3:62804207 A>T)
Disease associations
OMIM: gene MIM:604667 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001512_4 | Economic and political preferences (environmentalism) | 6.000000e-06 |
| GCST001585_28 | Breast size | 4.000000e-06 |
| GCST002119_19 | Metabolite levels (X-11787) | 2.000000e-06 |
| GCST003075_111 | Cognitive decline rate in late mild cognitive impairment | 3.000000e-10 |
| GCST003075_94 | Cognitive decline rate in late mild cognitive impairment | 2.000000e-10 |
| GCST003434_5 | Obsessive-compulsive symptoms | 5.000000e-06 |
| GCST003985_23 | Breast size | 2.000000e-06 |
| GCST004031_8 | QT interval (sulfonylurea treatment interaction) | 3.000000e-07 |
| GCST005830_1 | Hand grip strength | 5.000000e-08 |
| GCST006201_1 | Thiopurine-induced leukopenia in inflammatory bowel disease | 2.000000e-07 |
| GCST006482_4 | Lung function (FEV1/FVC) | 2.000000e-08 |
| GCST007323_86 | Risk-taking tendency (4-domain principal component model) | 7.000000e-10 |
| GCST007556_29 | Autism spectrum disorder | 6.000000e-07 |
| GCST008154_37 | Trunk fat mass | 8.000000e-06 |
| GCST008758_62 | Pre-treatment viral load in HIV-1 infection | 6.000000e-18 |
| GCST009462_47 | Optic disc size | 8.000000e-11 |
| GCST009864_2 | Fasting plasma glucose | 2.000000e-12 |
| GCST010132_10 | Processed meat consumption | 3.000000e-09 |
| GCST010143_32 | Meat-related diet | 7.000000e-09 |
| GCST010425_2 | Systolic blood pressure x educational attainment (graduated college) interaction (2df) | 3.000000e-10 |
| GCST010698_51 | Subcortical volume (min-P) | 9.000000e-11 |
| GCST010699_71 | Brain morphology (min-P) | 8.000000e-19 |
| GCST010701_103 | Cortical surface area (MOSTest) | 2.000000e-12 |
| GCST010702_121 | Subcortical volume (MOSTest) | 2.000000e-09 |
| GCST010703_56 | Brain morphology (MOSTest) | 1.000000e-08 |
| GCST010988_148 | Adult body size | 9.000000e-11 |
| GCST010988_149 | Adult body size | 4.000000e-08 |
| GCST010989_222 | Body size at age 10 | 2.000000e-08 |
| GCST011494_84 | Daytime nap | 4.000000e-08 |
| GCST012180_4 | Cigarettes smoked per day in Schizophrenia | 5.000000e-07 |
EFO canonical traits (17, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004827 | economic and social preference |
| EFO:0005276 | hydroxy-leucine measurement |
| EFO:0007710 | cognitive decline measurement |
| EFO:0007802 | obsessive-compulsive symptom measurement |
| EFO:0004682 | QT interval |
| EFO:0007922 | response to sulfonylurea |
| EFO:0006941 | grip strength measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0008579 | risk-taking behaviour |
| EFO:0010125 | viral load |
| EFO:0008111 | diet measurement |
| EFO:0004784 | self reported educational attainment |
| EFO:0006335 | systolic blood pressure |
| EFO:0004346 | neuroimaging measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0007828 | daytime rest measurement |
| EFO:0006525 | cigarettes per day measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| trichostatin A | decreases expression, increases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| arsenite | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| NSC305787 | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Latex | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.