CUEDC2
gene geneOn this page
Also known as MGC2491
Summary
CUEDC2 (CUE domain containing 2, HGNC:28352) is a protein-coding gene on chromosome 10q24.32, encoding CUE domain-containing protein 2 (Q9H467). Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol.
Predicted to enable ubiquitin binding activity. Acts upstream of or within negative regulation of cytokine production involved in inflammatory response and negative regulation of macrophage cytokine production. Located in cytosol; nuclear membrane; and nucleoplasm.
Source: NCBI Gene 79004 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_024040
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28352 |
| Approved symbol | CUEDC2 |
| Name | CUE domain containing 2 |
| Location | 10q24.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC2491 |
| Ensembl gene | ENSG00000107874 |
| Ensembl biotype | protein_coding |
| OMIM | 614142 |
| Entrez | 79004 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 21 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000369937, ENST00000465409, ENST00000477994, ENST00000486762, ENST00000888778, ENST00000888779, ENST00000888780, ENST00000888781, ENST00000888782, ENST00000888783, ENST00000888784, ENST00000888785, ENST00000925786, ENST00000925787, ENST00000925788, ENST00000925789, ENST00000925790, ENST00000925791, ENST00000925792, ENST00000925793, ENST00000925794, ENST00000941431, ENST00000941432, ENST00000941433
RefSeq mRNA: 1 — MANE Select: NM_024040
NM_024040
CCDS: CCDS41566
Canonical transcript exons
ENST00000369937 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000722774 | 102423798 | 102423859 |
| ENSE00000722775 | 102423996 | 102424178 |
| ENSE00001451309 | 102432526 | 102432574 |
| ENSE00003551863 | 102424499 | 102424560 |
| ENSE00003552624 | 102424264 | 102424394 |
| ENSE00003594851 | 102423657 | 102423717 |
| ENSE00003650852 | 102425115 | 102425198 |
| ENSE00003660236 | 102424649 | 102424792 |
| ENSE00003674284 | 102423249 | 102423572 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 97.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.6983 / max 177.0334, expressed in 1817 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111169 | 19.7138 | 1814 |
| 111170 | 4.9845 | 1601 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory bulb | UBERON:0002264 | 97.67 | gold quality |
| apex of heart | UBERON:0002098 | 97.35 | gold quality |
| tibial nerve | UBERON:0001323 | 97.26 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.15 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.14 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.95 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.94 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.71 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.71 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.63 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.63 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.53 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.50 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.47 | gold quality |
| amygdala | UBERON:0001876 | 96.45 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.39 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.38 | gold quality |
| lower esophagus | UBERON:0013473 | 96.36 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.29 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.29 | gold quality |
| muscle of leg | UBERON:0001383 | 96.28 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.23 | gold quality |
| putamen | UBERON:0001874 | 96.21 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.21 | gold quality |
| frontal cortex | UBERON:0001870 | 96.18 | gold quality |
| neocortex | UBERON:0001950 | 96.18 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.17 | gold quality |
| cortical plate | UBERON:0005343 | 96.12 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 331.94 |
| E-MTAB-6524 | no | 187.32 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting CUEDC2, 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-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-1843 | 98.97 | 66.07 | 838 |
| HSA-MIR-4802-5P | 98.97 | 66.26 | 833 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-1199-5P | 98.44 | 66.51 | 829 |
| HSA-MIR-6751-3P | 98.44 | 66.35 | 835 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-5088-5P | 97.97 | 64.28 | 487 |
| HSA-MIR-4693-5P | 97.35 | 67.02 | 1234 |
| HSA-MIR-2276-5P | 96.27 | 65.85 | 937 |
| HSA-MIR-324-5P | 95.68 | 65.20 | 560 |
| HSA-MIR-6514-5P | 95.07 | 66.02 | 655 |
Literature-anchored findings (GeneRIF, showing 21)
- These results identify a key post-translational mechanism that controls progesterone receptor protein levels and for the first time provide an important insight into the function of CUEDC2 in breast cancer proliferation. (PMID:17347654)
- key factor in endocrine resistance in breast cancer (PMID:21572428)
- CUEDC2 is a cell-cycle regulator that promotes spindle checkpoint inactivation and releases APC/C from checkpoint inhibition. CUEDC2 is phosphorylated by Cdk1 during mitosis. (PMID:21743465)
- a new biological activity for CUEDC2 as the regulator of JAK1/STAT3 signaling and the mechanism by which SOCS3 has been linked to suppression of the JAK/STAT pathway (PMID:22084247)
- In response to UV irradiation, CUEDC2 undergoes ERK1/2-dependent phosphorylation and ubiquitin-dependent degradation, leading to APC/C(Cdh1)-mediated cyclin A destruction, cyclin-dependent kinase 2 inactivation, and G1 arrest. (PMID:23776205)
- High CUEDC2 sensitizes chronic myeloid leukemic cells to imatinib treatment. (PMID:24125838)
- CUEDC2 plays a crucial role in modulating macrophage function and is associated with both colitis and colon tumorigenesis. (PMID:24882011)
- Results suggest that decreased expression of CUEDC2 contributes to tumor growth in lung adenocarcinoma, leading to a poor clinical outcome. (PMID:26023733)
- findings show a correlation between the aberrant expression of CUEDC2, and GLUT3 and LDHA in clinical hepatocellular carcinoma samples, further demonstrating a link between CUEDC2 and the Warburg effect during cancer development (PMID:28325773)
- Low CUEDC2 expression is associated with glioma. (PMID:28534933)
- the present study demonstrated that CUEDC2 downregulation prevented DOXinduced cardiotoxicity in H9c2 cells. Therefore, CUEDC2 may be a promising target for the prevention of DOXinduced cardiotoxicity. (PMID:29845245)
- CUEDC2, a novel interacting partner of the SOCS1 protein, plays important roles in the leukaemogenesis of acute myeloid leukaemia (PMID:29991678)
- MicroRNA hsa-miR-324-5p suppresses H5N1 virus replication by targeting the viral PB1 and host CUEDC2. (PMID:30045983)
- High Expression of CUEDC2 is associated with invasion and metastasis in colorectal cancer. (PMID:30651016)
- review of CUEDC2 expression in various tumors, and discussion of several fundamental signaling pathways that are impacted by CUEDC2 [review] (PMID:30844721)
- Kawasaki disease: SOCS2-AS1/miR-324-5p/CUEDC2 axis regulates the progression of human umbilical vein endothelial cells. (PMID:32688371)
- Comparison of ADAM19 and CUEDC2 expression in EHCC and their clinicopathological significance. (PMID:32960074)
- Expression of CUE domain containing 2 protein in serous ovarian cancer tissue: predicting disease-free and overall survival of patients. (PMID:32967504)
- LncRNA BCYRN1 inhibits glioma tumorigenesis by competitively binding with miR-619-5p to regulate CUEDC2 expression and the PTEN/AKT/p21 pathway. (PMID:32978519)
- MicroRNA-324-5p-CUEDC2 Axis Mediates Gain-of-Function Mutant p53-Driven Cancer Stemness. (PMID:34257080)
- Molecular crosstalk between CUEDC2 and ERalpha influences the clinical outcome by regulating mitosis in breast cancer. (PMID:35732909)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cuedc2 | ENSDARG00000039365 |
| mus_musculus | Cuedc2 | ENSMUSG00000036748 |
| rattus_norvegicus | Cuedc2 | ENSRNOG00000019574 |
| drosophila_melanogaster | CG9636 | FBGN0037556 |
Protein
Protein identifiers
CUE domain-containing protein 2 — Q9H467 (reviewed: Q9H467)
All UniProt accessions (1): Q9H467
UniProt curated annotations — full annotation on UniProt →
Function. Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism.
Subunit / interactions. Interacts with PGR. Interacts with ESR1 in the presence or absence of 17 beta-estradiol.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Significantly up-regulated in breast tumor tissues compared with matched adjacent normal tissues (at protein level). Levels inversely correlate with ESR1 in breast cancers and are lower in low-grade tumors compared to high-grade tumors.
Disease relevance. May predict the clinical outcome of tamoxifen therapy of breast cancer patients. Patients with tumors that highly express CUEDC2 do not respond to tamoxifen treatment as effectively as those with tumors with low expression.
Domain organisation. The CUE domain mediates interaction with PGR and ESR1.
Similarity. Belongs to the CUEDC2 family.
RefSeq proteins (1): NP_076945* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003892 | CUE | Domain |
| IPR039805 | CUE_CUED2 | Domain |
Pfam: PF02845
UniProt features (6 total): chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H467-F1 | 72.82 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 110
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 130 (showing top):
GOBP_INFLAMMATORY_RESPONSE, PAL_PRMT5_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, LE_EGR2_TARGETS_UP, GOBP_PRODUCTION_OF_MOLECULAR_MEDIATOR_INVOLVED_IN_INFLAMMATORY_RESPONSE, GOBP_CYTOKINE_PRODUCTION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, TATA_C, DODD_NASOPHARYNGEAL_CARCINOMA_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_IMMUNE_EFFECTOR_PROCESS
GO Biological Process (2): negative regulation of macrophage cytokine production (GO:0010936), negative regulation of cytokine production involved in inflammatory response (GO:1900016)
GO Molecular Function (2): ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear membrane (GO:0031965), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| negative regulation of cytokine production involved in immune response | 1 |
| macrophage cytokine production | 1 |
| regulation of macrophage cytokine production | 1 |
| negative regulation of cytokine production | 1 |
| cytokine production involved in inflammatory response | 1 |
| regulation of cytokine production involved in inflammatory response | 1 |
| ubiquitin-like protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CUEDC2 | PGR | P06401 | 776 |
| CUEDC2 | CRYBG3 | Q68DQ2 | 575 |
| CUEDC2 | ELOC | Q15369 | 574 |
| CUEDC2 | FBXL15 | Q9H469 | 550 |
| CUEDC2 | IKBKB | O14920 | 542 |
| CUEDC2 | CHUK | O15111 | 540 |
| CUEDC2 | CUEDC1 | Q9NWM3 | 530 |
| CUEDC2 | ESR1 | P03372 | 524 |
| CUEDC2 | BUB3 | O43684 | 493 |
| CUEDC2 | NR3C1 | P04150 | 477 |
| CUEDC2 | PPP1CB | P37140 | 461 |
| CUEDC2 | PPP1CC | P36873 | 457 |
| CUEDC2 | SLC68A1 | Q14CX5 | 455 |
| CUEDC2 | TMEM150A | Q86TG1 | 448 |
| CUEDC2 | MYNN | Q9NPC7 | 436 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PGR | CUEDC2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| CUEDC2 | PGR | psi-mi:“MI:0915”(physical association) | 0.660 |
| CUEDC2 | PGR | psi-mi:“MI:0403”(colocalization) | 0.660 |
| PGR | CUEDC2 | psi-mi:“MI:0403”(colocalization) | 0.660 |
| TBP | CUEDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF26 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| CUEDC2 | TBP | psi-mi:“MI:0914”(association) | 0.530 |
| FZR1 | TK1 | psi-mi:“MI:0914”(association) | 0.530 |
| ESR1 | CUEDC2 | psi-mi:“MI:0915”(physical association) | 0.520 |
| CUEDC2 | ESR1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| CUEDC2 | AGTR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUEDC2 | MYCBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EWSR1 | CUEDC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPT | MEX3A | psi-mi:“MI:0914”(association) | 0.350 |
| NAB2 | GRN | psi-mi:“MI:0914”(association) | 0.350 |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CTLA4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CAV1 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| GTF2A2 | S100P | psi-mi:“MI:0914”(association) | 0.350 |
| FZR1 | CDK1 | psi-mi:“MI:0914”(association) | 0.350 |
| FZR1 | BUB1B | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR4 | SH3PXD2B | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBP | CUEDC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (76): SOCS3 (Two-hybrid), FZR1 (Affinity Capture-MS), GTF2A1 (Affinity Capture-MS), TBP (Affinity Capture-MS), CUEDC2 (Affinity Capture-MS), CUEDC2 (Two-hybrid), HSPA4 (Affinity Capture-Western), HSPA4 (Affinity Capture-MS), CUEDC2 (Proximity Label-MS), FZR1 (Affinity Capture-MS), CUEDC2 (Affinity Capture-MS), CUEDC2 (Affinity Capture-MS), TBP (Affinity Capture-MS), KHK (Affinity Capture-MS), SOCS1 (Reconstituted Complex)
ESM2 similar proteins: A0JNQ6, A6NC42, A6NGQ2, A6NGR9, A6QP75, A7E3N7, A9X185, E1BDF2, E9PGG2, F6SZT2, P0C7A0, P85965, Q06VW1, Q0ZFW8, Q14DK4, Q3UK37, Q3UV16, Q3ZBN4, Q400G9, Q4VXA5, Q587J8, Q5JSQ8, Q60953, Q60I26, Q60I27, Q6NUI2, Q6ZUX3, Q810I0, Q8BH06, Q8C0R7, Q8IWB1, Q8IWY9, Q8IYX4, Q8K4C2, Q8N6L0, Q8N7F7, Q8NCV1, Q8TE82, Q91WA6, Q95JV3
Diamond homologs: A1L131, Q3ZBN4, Q68F60, Q6NU18, Q6TLH3, Q9CXX9, Q9H467
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1283 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:102423569:GGGC:G | acceptor_gain | 1.0000 |
| 10:102423570:GGC:G | acceptor_gain | 1.0000 |
| 10:102423571:GC:G | acceptor_gain | 1.0000 |
| 10:102423571:GCC:G | acceptor_loss | 1.0000 |
| 10:102423572:CC:C | acceptor_gain | 1.0000 |
| 10:102423573:C:CC | acceptor_gain | 1.0000 |
| 10:102423573:CTGTC:C | acceptor_loss | 1.0000 |
| 10:102423647:A:C | donor_gain | 1.0000 |
| 10:102423652:CTCA:C | donor_loss | 1.0000 |
| 10:102423653:TCAC:T | donor_loss | 1.0000 |
| 10:102423654:CA:C | donor_loss | 1.0000 |
| 10:102423655:A:AC | donor_gain | 1.0000 |
| 10:102423655:A:AG | donor_loss | 1.0000 |
| 10:102423655:ACCT:A | donor_gain | 1.0000 |
| 10:102423656:C:CC | donor_gain | 1.0000 |
| 10:102423656:CCT:C | donor_gain | 1.0000 |
| 10:102423656:CCTC:C | donor_gain | 1.0000 |
| 10:102423658:T:TA | donor_gain | 1.0000 |
| 10:102423659:C:A | donor_gain | 1.0000 |
| 10:102423796:A:AC | donor_gain | 1.0000 |
| 10:102423797:C:CC | donor_gain | 1.0000 |
| 10:102423797:CTT:C | donor_gain | 1.0000 |
| 10:102423899:A:T | acceptor_gain | 1.0000 |
| 10:102423991:GATAC:G | donor_loss | 1.0000 |
| 10:102423992:ATAC:A | donor_loss | 1.0000 |
| 10:102423993:TACC:T | donor_loss | 1.0000 |
| 10:102423994:ACCT:A | donor_loss | 1.0000 |
| 10:102423995:CCTGG:C | donor_loss | 1.0000 |
| 10:102424030:T:TA | donor_gain | 1.0000 |
| 10:102424035:T:A | donor_gain | 1.0000 |
AlphaMissense
1888 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:102423453:C:A | K279N | 0.995 |
| 10:102423453:C:G | K279N | 0.995 |
| 10:102423528:G:C | S254R | 0.995 |
| 10:102423528:G:T | S254R | 0.995 |
| 10:102423530:T:G | S254R | 0.995 |
| 10:102423551:A:C | Y247D | 0.995 |
| 10:102423455:T:C | K279E | 0.994 |
| 10:102423510:G:C | F260L | 0.994 |
| 10:102423510:G:T | F260L | 0.994 |
| 10:102423512:A:G | F260L | 0.994 |
| 10:102423551:A:G | Y247H | 0.993 |
| 10:102423553:C:G | R246P | 0.993 |
| 10:102423807:A:T | I216N | 0.993 |
| 10:102423440:A:G | Y284H | 0.992 |
| 10:102423431:G:C | H287D | 0.991 |
| 10:102423511:A:G | F260S | 0.991 |
| 10:102423716:A:C | Y220D | 0.991 |
| 10:102424135:A:T | L152H | 0.991 |
| 10:102423432:G:C | F286L | 0.990 |
| 10:102423432:G:T | F286L | 0.990 |
| 10:102423434:A:G | F286L | 0.990 |
| 10:102423444:T:A | R282S | 0.990 |
| 10:102423444:T:G | R282S | 0.990 |
| 10:102423550:T:G | Y247S | 0.990 |
| 10:102423807:A:G | I216T | 0.990 |
| 10:102424122:G:C | F156L | 0.990 |
| 10:102424122:G:T | F156L | 0.990 |
| 10:102424124:A:G | F156L | 0.990 |
| 10:102423521:C:G | G257R | 0.989 |
| 10:102423521:C:T | G257R | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000023936 (10:102432501 G>A), RS1000056704 (10:102432142 C>A,T), RS1000082882 (10:102424972 G>A), RS1000102189 (10:102429751 G>A), RS1000473105 (10:102429309 C>T), RS1000621288 (10:102425351 C>T), RS1001017850 (10:102430963 C>T), RS1001048732 (10:102430713 G>A,C), RS1001330523 (10:102423001 G>A), RS1002025059 (10:102429297 G>C), RS1003055229 (10:102427463 C>G), RS1003432504 (10:102427780 T>C), RS1003675322 (10:102424846 C>A), RS1003879684 (10:102428912 C>T), RS1004025722 (10:102432025 A>C,G)
Disease associations
OMIM: gene MIM:614142 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_1 | Prostate cancer | 5.000000e-10 |
| GCST002639_4 | Autism spectrum disorder-related traits | 4.000000e-07 |
| GCST005956_50 | Waist-to-hip ratio adjusted for BMI | 8.000000e-06 |
| GCST005958_15 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-06 |
| GCST005962_36 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 6.000000e-07 |
| GCST010002_298 | Refractive error | 3.000000e-22 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Quercetin | increases expression | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.