CACUL1
geneOn this page
Also known as FLJ40409MGC33215CAC1
Summary
CACUL1 (CDK2 associated cullin domain 1, HGNC:23727) is a protein-coding gene on chromosome 10q26.11, encoding CDK2-associated and cullin domain-containing protein 1 (Q86Y37). Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.
Enables protein kinase binding activity. Involved in G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity.
Source: NCBI Gene 143384 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 62 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_153810
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23727 |
| Approved symbol | CACUL1 |
| Name | CDK2 associated cullin domain 1 |
| Location | 10q26.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ40409, MGC33215, CAC1 |
| Ensembl gene | ENSG00000151893 |
| Ensembl biotype | protein_coding |
| OMIM | 618764 |
| Entrez | 143384 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000369151, ENST00000477583, ENST00000481360, ENST00000489169, ENST00000490610, ENST00000493518, ENST00000544392, ENST00000911131, ENST00000911132, ENST00000921890, ENST00000947728
RefSeq mRNA: 1 — MANE Select: NM_153810
NM_153810
CCDS: CCDS41570
Canonical transcript exons
ENST00000369151 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001002298 | 118729295 | 118729397 |
| ENSE00001383860 | 118754396 | 118754970 |
| ENSE00001448929 | 118676411 | 118686168 |
| ENSE00003466171 | 118686598 | 118686641 |
| ENSE00003471367 | 118691265 | 118691403 |
| ENSE00003474443 | 118701306 | 118701408 |
| ENSE00003607724 | 118730284 | 118730410 |
| ENSE00003623785 | 118695141 | 118695230 |
| ENSE00003678955 | 118707492 | 118707587 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 95.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.2516 / max 951.9878, expressed in 1820 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111639 | 36.0393 | 1817 |
| 111638 | 11.1091 | 1772 |
| 111637 | 7.0574 | 1631 |
| 111640 | 0.0395 | 8 |
| 111641 | 0.0063 | 4 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 95.40 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.20 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.95 | silver quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.56 | silver quality |
| amniotic fluid | UBERON:0000173 | 94.31 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.29 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.16 | silver quality |
| endothelial cell | CL:0000115 | 93.89 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.79 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.50 | gold quality |
| parietal pleura | UBERON:0002400 | 93.09 | gold quality |
| visceral pleura | UBERON:0002401 | 93.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.66 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.65 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.58 | gold quality |
| nipple | UBERON:0002030 | 92.48 | gold quality |
| gingiva | UBERON:0001828 | 92.37 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.22 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 91.88 | gold quality |
| deltoid | UBERON:0001476 | 91.87 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.80 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.75 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.72 | gold quality |
| vena cava | UBERON:0004087 | 91.55 | silver quality |
| calcaneal tendon | UBERON:0003701 | 91.50 | gold quality |
| oocyte | CL:0000023 | 91.25 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.05 | gold quality |
| saphenous vein | UBERON:0007318 | 91.01 | gold quality |
| tongue | UBERON:0001723 | 90.92 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.91 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | no | 2.59 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
276 targeting CACUL1, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
Literature-anchored findings (GeneRIF, showing 14)
- CAC1 is a novel cell cycle associated protein capable of promoting cell proliferation. (PMID:19829063)
- CAC1 is an important factor for the protection of cells against amyloid beta toxicity and oxidative stress in Alzheimer’s disease. (PMID:22415352)
- miR-199a-5p can regulate CAC1 and function as a tumor suppressor in colorectal cancer. (PMID:22903020)
- CAC1 is a novel corepressor of RARalpha that cooperates with HDACs and is involved in the regulation of RA-induced cellular differentiation. (PMID:22982681)
- Data suggest that CAC1, in association with LSD1 (lysine-specific histone demethylase 1), functions as a corepressor of estrogen receptor alpha and may be involved in drug resistance in breast cancer. (PMID:23178685)
- High CAC1 expression is associated with cisplatin resistance in gastric cancer. (PMID:23311997)
- CAC1 promoted the proliferation of human lung cancer A549 cells with activation of ERK1/2 signaling pathways. (PMID:23806693)
- H. pylori-triggered CACUL1 production occurred in an activating protein 1-dependent manner and regulated matrix metalloproteinase 9 and Slug expression to affect the invasion and metastasis of tumor cells. (PMID:24004834)
- silencing CACUL1 resulted in the same effects of miR-106a* overexpression in esophageal carcinoma cells, including suppressed esophageal carcinoma cell proliferation and blocked G1/S transition through CDK2 pathway by inhibiting cell cycle regulators. (PMID:26314198)
- Suggest that CACUL1 impairs LSD1-mediated activation of AR, thereby implicating it as a potential antitumor target in prostate cancer cells. (PMID:27085459)
- These data suggest that CACUL1 is a novel regulator that negatively controls p53 activity through the regulation of PML SUMOylation. (PMID:27889610)
- CAC1 plays an important role in the occurrence and promotion of antineoplastic drug resistance in colorectal cancer. CAC1 knockdown resulted in decreased P-glycoprotein and MRP-1 protein expression. (PMID:31504073)
- CDK-associated Cullin 1 Promotes Cell Proliferation and Inhibits Cell Apoptosis in Human Glioblastoma. (PMID:34080964)
- The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei. (PMID:36898988)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cacul1 | ENSDARG00000021885 |
| mus_musculus | Cacul1 | ENSMUSG00000033417 |
| rattus_norvegicus | Cacul1 | ENSRNOG00000009954 |
Paralogs (7): CUL3 (ENSG00000036257), CUL1 (ENSG00000055130), CUL2 (ENSG00000108094), CUL4A (ENSG00000139842), CUL4B (ENSG00000158290), CUL5 (ENSG00000166266), ANAPC2 (ENSG00000176248)
Protein
Protein identifiers
CDK2-associated and cullin domain-containing protein 1 — Q86Y37 (reviewed: Q86Y37)
Alternative names: Cdk-associated cullin 1
All UniProt accessions (1): Q86Y37
UniProt curated annotations — full annotation on UniProt →
Function. Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.
Subunit / interactions. Interacts with CDK2.
Tissue specificity. Ubiquitously expressed with highest expression in the mammary gland and large intestine. Highly expressed in cancer tissues and cancer cell lines. During cell cycle progression expression is high in G1/S, low in the middle of S phase, and increases again in S/G2 phase.
Similarity. Belongs to the cullin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86Y37-1 | 1 | yes |
| Q86Y37-2 | 2 | |
| Q86Y37-4 | 4 |
RefSeq proteins (1): NP_722517* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001373 | Cullin_N | Domain |
| IPR016159 | Cullin_repeat-like_dom_sf | Homologous_superfamily |
| IPR042652 | CACUL1 | Family |
Pfam: PF00888
UniProt features (8 total): splice variant 3, region of interest 2, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86Y37-F1 | 74.25 | 0.54 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 236 (showing top):
GGGACCA_MIR133A_MIR133B, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_PHOSPHORYLATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, USF_C, RODRIGUES_NTN1_TARGETS_DN, GTGCCTT_MIR506, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION
GO Biological Process (4): G1/S transition of mitotic cell cycle (GO:0000082), ubiquitin-dependent protein catabolic process (GO:0006511), positive regulation of cell population proliferation (GO:0008284), positive regulation of protein kinase activity (GO:0045860)
GO Molecular Function (3): protein kinase binding (GO:0019901), ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G1/S phase transition | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| positive regulation of protein phosphorylation | 1 |
| protein kinase activity | 1 |
| positive regulation of kinase activity | 1 |
| regulation of protein kinase activity | 1 |
| kinase binding | 1 |
| ubiquitin-like protein ligase binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
1802 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CACUL1 | RARA | P10276 | 496 |
| CACUL1 | CARD10 | Q9BWT7 | 469 |
| CACUL1 | NSUN4 | Q96CB9 | 435 |
| CACUL1 | JMJD8 | Q96S16 | 421 |
| CACUL1 | EFCAB14 | O75071 | 417 |
| CACUL1 | MYSM1 | Q5VVJ2 | 397 |
| CACUL1 | CDC27 | P30260 | 367 |
| CACUL1 | CDK2 | P24941 | 358 |
| CACUL1 | VARS1 | P26640 | 348 |
| CACUL1 | TIAL1 | Q01085 | 321 |
| CACUL1 | LURAP1L | Q8IV03 | 319 |
| CACUL1 | PDIK1L | Q8N165 | 312 |
| CACUL1 | DDB1 | Q16531 | 311 |
| CACUL1 | MMP19 | Q99542 | 311 |
| CACUL1 | AVL9 | Q8NBF6 | 311 |
| CACUL1 | ELOC | Q15369 | 311 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KPNA6 | RNMT | psi-mi:“MI:0914”(association) | 0.800 |
| CACUL1 | ESR1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| ESR1 | CACUL1 | psi-mi:“MI:0407”(direct interaction) | 0.570 |
| CACUL1 | ESR1 | psi-mi:“MI:0403”(colocalization) | 0.570 |
| KBTBD4 | KPNA5 | psi-mi:“MI:0914”(association) | 0.530 |
| CACUL1 | KDM1A | psi-mi:“MI:0915”(physical association) | 0.400 |
| PSMA2 | PSMD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CACUL1 | H2BC17 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL34 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| CACUL1 | AMY1A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (29): AR (Affinity Capture-Western), CACUL1 (Affinity Capture-Western), AR (Reconstituted Complex), CACUL1 (Affinity Capture-MS), CACUL1 (Affinity Capture-Western), CACUL1 (Affinity Capture-Western), CACUL1 (Two-hybrid), CACUL1 (Affinity Capture-MS), CACUL1 (Proximity Label-MS), CACUL1 (Synthetic Lethality), CACUL1 (Proximity Label-MS), CACUL1 (Affinity Capture-MS), CSNK1G3 (Affinity Capture-MS), MICAL1 (Affinity Capture-MS), HIST1H2BO (Affinity Capture-MS)
ESM2 similar proteins: A2VDN6, B5DF11, O46606, O88878, O95628, P17863, P29084, P29540, P59326, P70445, Q02614, Q0VCZ3, Q14919, Q15459, Q15650, Q2KJF9, Q2YDP3, Q3T0U1, Q5BJY3, Q5F3N6, Q5JSJ4, Q5R6F1, Q5RDF5, Q5ZJ85, Q60544, Q69ZT9, Q6DGQ4, Q6PI98, Q80ZQ5, Q86VZ6, Q86Y37, Q8BHA0, Q8BND4, Q8BT14, Q8K1N4, Q8K4Z5, Q8NEL9, Q8VYN2, Q8VYZ0, Q92560
Diamond homologs: Q5XI53, Q86Y37, Q8R0X2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 43 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 147279 | GRCh38/hg38 10q26.11(chr10:118330136-118685873)x3 | Pathogenic |
| 816822 | NM_153810.5(CACUL1):c.910_911del (p.Leu304fs) | Likely pathogenic |
SpliceAI
2104 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:118686001:T:TA | donor_gain | 1.0000 |
| 10:118691399:CCACT:C | acceptor_gain | 1.0000 |
| 10:118691400:CACT:C | acceptor_gain | 1.0000 |
| 10:118691400:CACTC:C | acceptor_gain | 1.0000 |
| 10:118691402:CT:C | acceptor_gain | 1.0000 |
| 10:118691404:C:CC | acceptor_gain | 1.0000 |
| 10:118701299:TACTT:T | donor_loss | 1.0000 |
| 10:118701300:ACT:A | donor_loss | 1.0000 |
| 10:118701301:CT:C | donor_loss | 1.0000 |
| 10:118701304:A:AC | donor_gain | 1.0000 |
| 10:118701305:C:CC | donor_gain | 1.0000 |
| 10:118701305:C:T | donor_loss | 1.0000 |
| 10:118701305:CG:C | donor_gain | 1.0000 |
| 10:118701409:C:CC | acceptor_gain | 1.0000 |
| 10:118707487:CTT:C | donor_loss | 1.0000 |
| 10:118707488:TTA:T | donor_loss | 1.0000 |
| 10:118707489:TA:T | donor_loss | 1.0000 |
| 10:118707490:ACCA:A | donor_loss | 1.0000 |
| 10:118707587:CCT:C | acceptor_loss | 1.0000 |
| 10:118707588:CT:C | acceptor_loss | 1.0000 |
| 10:118707589:T:A | acceptor_loss | 1.0000 |
| 10:118729393:CACAA:C | acceptor_gain | 1.0000 |
| 10:118729395:CAA:C | acceptor_gain | 1.0000 |
| 10:118730279:CTTA:C | donor_loss | 1.0000 |
| 10:118730280:TTA:T | donor_loss | 1.0000 |
| 10:118730281:TA:T | donor_loss | 1.0000 |
| 10:118730282:A:AC | donor_gain | 1.0000 |
| 10:118730282:A:T | donor_loss | 1.0000 |
| 10:118730283:C:CC | donor_gain | 1.0000 |
| 10:118730283:C:CG | donor_loss | 1.0000 |
AlphaMissense
2438 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:118691376:A:G | F305S | 1.000 |
| 10:118691401:A:G | W297R | 1.000 |
| 10:118691401:A:T | W297R | 1.000 |
| 10:118695149:A:G | L293P | 1.000 |
| 10:118695158:A:G | L290P | 1.000 |
| 10:118695224:A:G | L268P | 1.000 |
| 10:118701311:A:G | L264P | 1.000 |
| 10:118701335:A:T | V256D | 1.000 |
| 10:118701347:A:G | F252S | 1.000 |
| 10:118701359:A:G | L248P | 1.000 |
| 10:118701359:A:T | L248H | 1.000 |
| 10:118701371:A:G | L244S | 1.000 |
| 10:118701383:A:G | L240P | 1.000 |
| 10:118701385:C:A | K239N | 1.000 |
| 10:118701385:C:G | K239N | 1.000 |
| 10:118701395:A:T | I236N | 1.000 |
| 10:118701399:A:C | Y235D | 1.000 |
| 10:118701400:A:C | F234L | 1.000 |
| 10:118701400:A:T | F234L | 1.000 |
| 10:118701401:A:C | F234C | 1.000 |
| 10:118701401:A:G | F234S | 1.000 |
| 10:118701402:A:G | F234L | 1.000 |
| 10:118701402:A:T | F234I | 1.000 |
| 10:118701403:C:A | K233N | 1.000 |
| 10:118701403:C:G | K233N | 1.000 |
| 10:118701404:T:A | K233M | 1.000 |
| 10:118701405:T:C | K233E | 1.000 |
| 10:118701406:A:C | N232K | 1.000 |
| 10:118701406:A:T | N232K | 1.000 |
| 10:118707492:C:A | M231I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003107 (10:118756305 A>G), RS1000016455 (10:118726442 C>A,G,T), RS1000099418 (10:118745122 T>A), RS1000108586 (10:118676095 G>A), RS1000132132 (10:118698702 G>T), RS1000132911 (10:118682281 T>A), RS1000184969 (10:118732937 C>G), RS1000236536 (10:118754552 T>C), RS1000351814 (10:118746253 C>T), RS1000368354 (10:118694773 C>T), RS1000419897 (10:118739962 T>A,C,G), RS1000420577 (10:118694472 C>G,T), RS1000463398 (10:118748656 T>G), RS1000492548 (10:118726590 G>A), RS1000525949 (10:118693813 G>A,C)
Disease associations
OMIM: gene MIM:618764 | disease phenotypes: MIM:603047
GenCC curated gene-disease
Mondo (3): coloboma (MONDO:0001476), astigmatism (MONDO:0011284), patent foramen ovale (MONDO:0020439)
Orphanet (2): OBSOLETE: Ocular coloboma (Orphanet:194), NON RARE IN EUROPE: Patent foramen ovale (Orphanet:99108)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000483 | Astigmatism |
| HP:0001655 | Patent foramen ovale |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007490_19 | Anthropometric traits (multi-trait analysis) | 4.000000e-13 |
| GCST008163_285 | Height | 1.000000e-06 |
| GCST90011900_46 | Serum alkaline phosphatase levels | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004324 | body weights and measures |
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001251 | Astigmatism | C11.744.212 |
| D003103 | Coloboma | C11.250.110; C11.270.147; C16.131.384.282 |
| D054092 | Foramen Ovale, Patent | C14.240.400.560.375.258; C14.280.400.560.375.258; C16.131.240.400.560.375.258 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| methylparaben | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| 8-Hydroxy-2’-Deoxyguanosine | affects abundance, affects response to substance, increases abundance | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | affects abundance, affects response to substance, increases abundance | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Endocrine Disruptors | affects abundance, affects response to substance, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00770094 | PHASE4 | UNKNOWN | Multi Laser Platform Comparison Study for LASIK |
| NCT00821236 | PHASE4 | COMPLETED | Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK |
| NCT00825513 | PHASE4 | COMPLETED | Safety and Effectiveness of the Akreos Toric Intraocular Lens. |
| NCT01018797 | PHASE4 | COMPLETED | Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty |
| NCT01279031 | PHASE4 | COMPLETED | Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial |
| NCT01396616 | PHASE4 | UNKNOWN | Clinical Evaluation of Toric Intraocular Lens Made by Aurolab |
| NCT01454843 | PHASE4 | COMPLETED | LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser vs AMO Visx Wavefront-Guided Excimer Laser |
| NCT01554761 | PHASE4 | UNKNOWN | Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia |
| NCT01885780 | PHASE4 | COMPLETED | Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy. |
| NCT04208750 | PHASE4 | COMPLETED | Clinical Investigation of the Vision-R800 Device. |
| NCT04283331 | PHASE4 | UNKNOWN | Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK) |
| NCT04321226 | PHASE4 | UNKNOWN | Femtosecond Laser-assisted Astigmatism Treatment |
| NCT04418986 | PHASE4 | COMPLETED | Incisional Correction of Corneal Astigmatism During Phacoemulsification |
| NCT07140653 | PHASE4 | RECRUITING | Arcuate Incisions With Light Adjustable Lens for Astigmatism Correction in Lens Surgery |
| NCT00697151 | PHASE4 | COMPLETED | Patent Foramen Ovale in Cryptogenic Stroke Study |
| NCT01550588 | PHASE4 | UNKNOWN | Device Closure Versus Medical Therapy for Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale (DEFENSE-PFO) |
| NCT05561660 | PHASE4 | UNKNOWN | COMParison of the EffecT of dEvice Closure in Alleviating Migraine With PFO (COMPETE-2) |
| NCT00000123 | PHASE3 | COMPLETED | The Berkeley Orthokeratology Study |
| NCT00663923 | PHASE3 | COMPLETED | Comparison of Cross-cylinder and Conventional Photorefractive Keratectomy(PRK) in Correcting Medium-high Astigmatism |
| NCT00928122 | PHASE3 | UNKNOWN | Intrastromal Correction of Ametropia by a Femtosecond Laser |
| NCT01673503 | PHASE3 | COMPLETED | A Prospective Study of Femtosecond Laser Intracorneal Lensectomi |
| NCT05247658 | PHASE3 | TERMINATED | Use of a Disk of Amniotic Membrane (Visio-AMTRIX) in Postoperative Care After PKR |
| NCT00562289 | PHASE3 | COMPLETED | Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence |
| NCT01333761 | PHASE3 | TERMINATED | Cardiox Shunt Detection Technology Study |
| NCT01773252 | PHASE3 | TERMINATED | Right to Left Cardiac Shunt Detection |
| NCT05213104 | PHASE3 | ACTIVE_NOT_RECRUITING | Assessment of Flecainide to Lower the Patent Foramen Ovale Closure Risk of Atrial Arrhythmia or Tachycardia |
| NCT05387954 | PHASE3 | RECRUITING | PFO Closure, Oral Anticoagulants or Antiplatelet Therapy After PFO-associated Stroke in Patients Aged 60 to 80 Years |
| NCT00505570 | PHASE2 | TERMINATED | PRIMA PFO Migraine Trial |
| NCT02378623 | PHASE2 | WITHDRAWN | Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli |
| NCT02777359 | PHASE2 | UNKNOWN | Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches |
| NCT05546320 | PHASE2 | COMPLETED | Comparison of the Effect of Medication Therapy in Alleviating Migraine With Patent Foramen Ovale |
| NCT06896357 | PHASE1 | NOT_YET_RECRUITING | Effectiveness and Safety of Limbal Relaxing Incisions for Correcting Post Phacoemulsification High Astigmatism |
| NCT00368004 | Not specified | TERMINATED | Family Studies of Uveal Coloboma |
| NCT01778543 | Not specified | RECRUITING | Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) |
| NCT04833361 | Not specified | COMPLETED | Potential Environmental Causes of Uveal Coloboma |
| NCT06293560 | Not specified | RECRUITING | Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children |
| NCT00876707 | PHASE1/PHASE2 | COMPLETED | Wavefront Analyzes and Visual Performance of Three Multifocal Intra-ocular Lenses |
| NCT01024855 | PHASE1/PHASE2 | COMPLETED | Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions |
| NCT06742541 | EARLY_PHASE1 | COMPLETED | ICL and LASIK for Hyperopic Astigmatism |
| NCT00347997 | Not specified | WITHDRAWN | A Study to Evaluate the Safety and Effectiveness of the 217z Laser With Zyoptix for Lasik |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): astigmatism, coloboma, patent foramen ovale