CNRIP1
gene geneOn this page
Also known as DKFZP566K1924CRIP1CRIP1aCRIP1b
Summary
CNRIP1 (cannabinoid receptor interacting protein 1, HGNC:24546) is a protein-coding gene on chromosome 2p14, encoding CB1 cannabinoid receptor-interacting protein 1 (Q96F85). Suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels.
This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene.
Source: NCBI Gene 25927 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 67 total — 1 pathogenic
- MANE Select transcript:
NM_015463
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24546 |
| Approved symbol | CNRIP1 |
| Name | cannabinoid receptor interacting protein 1 |
| Location | 2p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP566K1924, CRIP1, CRIP1a, CRIP1b |
| Ensembl gene | ENSG00000119865 |
| Ensembl biotype | protein_coding |
| OMIM | 618538 |
| Entrez | 25927 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000263655, ENST00000409559, ENST00000409862, ENST00000481714, ENST00000954140
RefSeq mRNA: 7 — MANE Select: NM_015463
NM_001111101, NM_001371604, NM_001371605, NM_001371606, NM_001371607, NM_001371608, NM_015463
CCDS: CCDS1886, CCDS46311
Canonical transcript exons
ENST00000263655 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000810243 | 68293010 | 68294026 |
| ENSE00001006457 | 68319222 | 68319949 |
| ENSE00003478817 | 68317157 | 68317307 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 99.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4358 / max 265.0385, expressed in 1345 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28868 | 10.5301 | 1234 |
| 28877 | 7.2354 | 1209 |
| 28874 | 3.6237 | 1070 |
| 28870 | 0.7690 | 346 |
| 28873 | 0.3573 | 182 |
| 28876 | 0.2983 | 178 |
| 28872 | 0.2620 | 119 |
| 28875 | 0.1559 | 70 |
| 28869 | 0.0973 | 36 |
| 28871 | 0.0770 | 37 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.53 | gold quality |
| oocyte | CL:0000023 | 99.51 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.38 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.14 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.38 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.69 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.61 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.56 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.38 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.18 | gold quality |
| frontal cortex | UBERON:0001870 | 97.05 | gold quality |
| occipital lobe | UBERON:0002021 | 97.00 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.94 | gold quality |
| cerebral cortex | UBERON:0000956 | 96.88 | gold quality |
| neocortex | UBERON:0001950 | 96.88 | gold quality |
| cortical plate | UBERON:0005343 | 96.82 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.80 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.79 | gold quality |
| parietal lobe | UBERON:0001872 | 96.68 | gold quality |
| temporal lobe | UBERON:0001871 | 96.67 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.44 | gold quality |
| tibia | UBERON:0000979 | 96.42 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.38 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.32 | gold quality |
| cerebellum | UBERON:0002037 | 96.25 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.24 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.18 | gold quality |
| amygdala | UBERON:0001876 | 96.17 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.14 | gold quality |
Single-cell (SCXA)
Detected in 16 experiment(s), a significant marker in 15.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 1313.08 |
| E-MTAB-7407 | yes | 1044.46 |
| E-CURD-112 | yes | 574.25 |
| E-GEOD-76312 | yes | 361.78 |
| E-CURD-6 | yes | 359.63 |
| E-MTAB-10042 | yes | 279.90 |
| E-MTAB-8884 | yes | 278.66 |
| E-HCAD-6 | yes | 181.92 |
| E-CURD-122 | yes | 18.58 |
| E-MTAB-6701 | yes | 12.86 |
| E-MTAB-9801 | yes | 9.84 |
| E-HCAD-10 | yes | 9.78 |
| E-MTAB-8410 | yes | 9.51 |
| E-CURD-46 | yes | 5.46 |
| E-MTAB-7303 | no | 565.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting CNRIP1, 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-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-297 | 99.40 | 69.58 | 1418 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-4312 | 99.34 | 67.30 | 511 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
Literature-anchored findings (GeneRIF, showing 10)
- CRIP1a can compete with beta-arrestins for interaction with C-terminal CB1R domains that could affect agonist-driven, beta-arrestin-mediated internalization of the CB1R. (PMID:27895162)
- The Arg82 and Cys126 of CRIP1b are involved in the majority of hydrogen bond interactions with the CB1 receptor and are possible key residues required for interactions between the CB1 receptor and CRIP1b (PMID:28918320)
- CNRIP1 and RUNX3 as potential DNA methylation biomarkers for CRC diagnosis and treatment (PMID:28940471)
- Through investigations of the function and structure of CRIP1a, new pharmacotherapies based upon the CRIP-CB1 receptor interaction can be designed to treat diseases such as epilepsy, motor dysfunctions and schizophrenia (PMID:31614728)
- A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. (PMID:32337552)
- Tat-Cannabinoid Receptor Interacting Protein Reduces Ischemia-Induced Neuronal Damage and Its Possible Relationship with 14-3-3eta. (PMID:32756411)
- DNA Methylation of Cannabinoid Receptor Interacting Protein 1 Promotes Pathogenesis of Intrahepatic Cholangiocarcinoma Through Suppressing Parkin-Dependent Pyruvate Kinase M2 Ubiquitination. (PMID:32955740)
- Cannabinoid Receptor Interacting Protein 1a (CRIP1a) in Health and Disease. (PMID:33261012)
- Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription. (PMID:34638827)
- Deciphering the Molecular Association of Human CRIP1a with an Agonist-Bound Cannabinoid Receptor 1. (PMID:38159053)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnrip1b | ENSDARG00000037337 |
| danio_rerio | cnrip1a | ENSDARG00000091683 |
| mus_musculus | Cnrip1 | ENSMUSG00000044629 |
| rattus_norvegicus | Cnrip1 | ENSRNOG00000005326 |
| caenorhabditis_elegans | WBGENE00017914 |
Protein
Protein identifiers
CB1 cannabinoid receptor-interacting protein 1 — Q96F85 (reviewed: Q96F85)
All UniProt accessions (2): Q96F85, B8ZZB8
UniProt curated annotations — full annotation on UniProt →
Function. Suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels. Does not suppress cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels.
Subunit / interactions. Interacts with the cannabinoid receptor CNR1 (via C-terminus). Does not interact with cannabinoid receptor CNR2.
Similarity. Belongs to the CNRIP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96F85-1 | 1, CRIP1a | yes |
| Q96F85-2 | 2, CRIP1b |
RefSeq proteins (7): NP_001104571, NP_001358533, NP_001358534, NP_001358535, NP_001358536, NP_001358537, NP_056278* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029204 | CNRIP1 | Family |
Pfam: PF15043
UniProt features (3 total): chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96F85-F1 | 94.94 | 0.92 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 524 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_ZINC_ION, GOBP_GLAND_MORPHOGENESIS, GOBP_PROSTATE_GLAND_MORPHOGENESIS, GOBP_CELLULAR_RESPONSE_TO_UV, BASSO_B_LYMPHOCYTE_NETWORK, YANG_BREAST_CANCER_ESR1_BULK_UP, chr2p14, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, MODULE_45, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER
GO Biological Process (3): regulation of signaling receptor activity (GO:0010469), regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission (GO:0150036), negative regulation of signaling receptor activity (GO:2000272)
GO Molecular Function (2): type 1 cannabinoid receptor binding (GO:0031718), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), plasma membrane (GO:0005886), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 3 |
| signaling receptor activity | 2 |
| cellular anatomical structure | 2 |
| regulation of signal transduction | 1 |
| regulation of molecular function | 1 |
| modulation of chemical synaptic transmission | 1 |
| trans-synaptic signaling by endocannabinoid, modulating synaptic transmission | 1 |
| regulation of signaling receptor activity | 1 |
| negative regulation of molecular function | 1 |
| cannabinoid receptor binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
524 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNRIP1 | CNR1 | P21554 | 745 |
| CNRIP1 | SEPTIN9 | Q9UHD8 | 660 |
| CNRIP1 | SNAPIN | O95295 | 606 |
| CNRIP1 | DAGLB | Q8NCG7 | 555 |
| CNRIP1 | DAGLA | Q9Y4D2 | 553 |
| CNRIP1 | VIM | P08670 | 552 |
| CNRIP1 | SPART | Q8N0X7 | 479 |
| CNRIP1 | ABHD6 | Q9BV23 | 478 |
| CNRIP1 | DNAJC14 | Q6Y2X3 | 459 |
| CNRIP1 | FBXO48 | Q5FWF7 | 456 |
| CNRIP1 | CDO1 | P78513 | 448 |
| CNRIP1 | LRRC28 | Q86X40 | 420 |
| CNRIP1 | ZSCAN18 | Q8TBC5 | 399 |
| CNRIP1 | PLD6 | Q8N2A8 | 393 |
| CNRIP1 | ADHFE1 | Q8IWW8 | 392 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNRIP1 | PRTFDC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIF1A | CNRIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFP41 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| PGLYRP1 | IFNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| C20orf203 | POTEI | psi-mi:“MI:0914”(association) | 0.530 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CNRIP1 | GCH1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SST | ATP1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM18 | GSN | psi-mi:“MI:0914”(association) | 0.350 |
| CNRIP1 | UTP4 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | PITPNM1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MAPT | psi-mi:“MI:2364”(proximity) | 0.270 | |
| CNRIP1 | PRTFDC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CNRIP1 | YIF1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| RUNX1 | CNRIP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): KCTD5 (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), KCTD2 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Two-hybrid), CNRIP1 (Affinity Capture-Western), CNRIP1 (Two-hybrid)
ESM2 similar proteins: B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4NKI9, B4PVH6, B4QVW6, H2KYU6, O08619, O57538, P00488, P10493, P10759, P12260, P22735, P22758, P23606, P29458, P34501, P52183, P79734, P79820, P91309, Q01432, Q05187, Q17QM9, Q24151, Q29B63, Q29RZ2, Q41969, Q5M8N0, Q5R4L5, Q66K08, Q6GQ76, Q6MVH7, Q7KRR5, Q8BH61, Q92143, Q95QZ9, Q96F85
Diamond homologs: Q17QM9, Q5M7A7, Q5M8N0, Q96F85, Q9GKT6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3252105 | NC_000002.12:g.68218674_68450455dup | Pathogenic |
SpliceAI
692 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:68294027:C:CC | acceptor_gain | 1.0000 |
| 2:68319220:A:AC | donor_gain | 1.0000 |
| 2:68319221:C:CC | donor_gain | 1.0000 |
| 2:68319221:CTCGA:C | donor_gain | 1.0000 |
| 2:68317275:A:T | acceptor_gain | 0.9900 |
| 2:68294024:GAAC:G | acceptor_loss | 0.9800 |
| 2:68294028:T:G | acceptor_loss | 0.9800 |
| 2:68319320:CACCT:C | acceptor_gain | 0.9800 |
| 2:68294023:TGAA:T | acceptor_gain | 0.9700 |
| 2:68317150:GCCTT:G | donor_loss | 0.9700 |
| 2:68317151:CCTT:C | donor_loss | 0.9700 |
| 2:68317152:CTT:C | donor_loss | 0.9700 |
| 2:68317153:TTA:T | donor_loss | 0.9700 |
| 2:68317154:TACCG:T | donor_loss | 0.9700 |
| 2:68317155:A:T | donor_loss | 0.9700 |
| 2:68317156:C:A | donor_loss | 0.9700 |
| 2:68317156:CCGG:C | donor_gain | 0.9700 |
| 2:68318415:T:TA | donor_gain | 0.9700 |
| 2:68319221:CT:C | donor_gain | 0.9700 |
| 2:68319324:T:C | acceptor_gain | 0.9700 |
| 2:68306985:T:TC | acceptor_gain | 0.9600 |
| 2:68318400:TC:T | donor_gain | 0.9600 |
| 2:68318401:C:CT | donor_gain | 0.9600 |
| 2:68319258:A:C | donor_gain | 0.9600 |
| 2:68294024:GAA:G | acceptor_gain | 0.9500 |
| 2:68294025:AA:A | acceptor_gain | 0.9500 |
| 2:68316882:A:C | donor_gain | 0.9500 |
| 2:68317155:A:AC | donor_gain | 0.9500 |
| 2:68317156:C:CC | donor_gain | 0.9500 |
| 2:68318448:T:A | donor_gain | 0.9500 |
AlphaMissense
1073 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:68293918:A:G | C147R | 1.000 |
| 2:68293947:C:A | G137V | 1.000 |
| 2:68293947:C:T | G137E | 1.000 |
| 2:68293948:C:G | G137R | 1.000 |
| 2:68293948:C:T | G137R | 1.000 |
| 2:68293960:G:C | H133D | 1.000 |
| 2:68293985:C:A | K124N | 1.000 |
| 2:68293985:C:G | K124N | 1.000 |
| 2:68293986:T:A | K124M | 1.000 |
| 2:68293987:T:C | K124E | 1.000 |
| 2:68293987:T:G | K124Q | 1.000 |
| 2:68293996:A:G | W121R | 1.000 |
| 2:68293996:A:T | W121R | 1.000 |
| 2:68294013:C:T | G115E | 1.000 |
| 2:68294014:C:A | G115W | 1.000 |
| 2:68317182:C:G | R102P | 1.000 |
| 2:68317183:G:C | R102G | 1.000 |
| 2:68317188:C:T | G100E | 1.000 |
| 2:68317222:A:C | Y89D | 1.000 |
| 2:68319258:A:T | V48D | 1.000 |
| 2:68319282:A:G | L40P | 1.000 |
| 2:68319284:C:A | K39N | 1.000 |
| 2:68319284:C:G | K39N | 1.000 |
| 2:68319286:T:C | K39E | 1.000 |
| 2:68319291:G:A | T37I | 1.000 |
| 2:68319305:G:C | F32L | 1.000 |
| 2:68319305:G:T | F32L | 1.000 |
| 2:68319306:A:C | F32C | 1.000 |
| 2:68319306:A:G | F32S | 1.000 |
| 2:68319307:A:C | F32V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006430 (2:68304114 G>A,T), RS1000008838 (2:68295672 T>C), RS1000049874 (2:68286374 A>G), RS1000251477 (2:68293766 A>T), RS1000269640 (2:68289591 C>A,G,T), RS1000289037 (2:68302099 A>T), RS1000433927 (2:68306869 A>G,T), RS1000462512 (2:68319907 G>A), RS1000463554 (2:68306640 G>A,T), RS1000616964 (2:68313068 G>T), RS1000660548 (2:68302355 T>G), RS1000871818 (2:68291111 G>A), RS1000932547 (2:68312063 T>C), RS1000963751 (2:68311787 A>G), RS1000982095 (2:68300511 G>A,C)
Disease associations
OMIM: gene MIM:618538 | disease phenotypes: MIM:615654
GenCC curated gene-disease
Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), autosomal dominant nonsyndromic hearing loss 58 (MONDO:0014293)
Orphanet (1): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007267_88 | Systolic blood pressure | 5.000000e-10 |
| GCST007325_227 | General risk tolerance (MTAG) | 4.000000e-09 |
| GCST90002394_486 | Monocyte percentage of white cells | 7.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0008579 | risk-taking behaviour |
| EFO:0007989 | monocyte percentage of leukocytes |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, decreases expression, affects cotreatment | 7 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | affects cotreatment, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Lead | affects expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant nonsyndromic hearing loss 58