LDLRAD4
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Summary
LDLRAD4 (low density lipoprotein receptor class A domain containing 4, HGNC:1224) is a protein-coding gene on chromosome 18p11.21, encoding Low-density lipoprotein receptor class A domain-containing protein 4 (O15165). Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression.
Enables R-SMAD binding activity. Involved in negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in early endosome membrane.
Source: NCBI Gene 753 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_001378100
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1224 |
| Approved symbol | LDLRAD4 |
| Name | low density lipoprotein receptor class A domain containing 4 |
| Location | 18p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000168675 |
| Ensembl biotype | protein_coding |
| OMIM | 606571 |
| Entrez | 753 |
Gene structure
Transcript identifiers
Ensembl transcripts: 61 — 40 protein_coding, 15 protein_coding_CDS_not_defined, 3 retained_intron, 3 nonsense_mediated_decay
ENST00000359446, ENST00000361303, ENST00000399848, ENST00000435606, ENST00000585931, ENST00000586207, ENST00000586222, ENST00000586765, ENST00000587344, ENST00000587440, ENST00000587600, ENST00000587757, ENST00000587905, ENST00000590115, ENST00000590308, ENST00000590371, ENST00000592657, ENST00000592812, ENST00000592991, ENST00000593236, ENST00000610087, ENST00000676672, ENST00000676773, ENST00000676815, ENST00000676891, ENST00000677055, ENST00000677304, ENST00000677387, ENST00000677744, ENST00000677867, ENST00000677910, ENST00000678223, ENST00000678309, ENST00000678400, ENST00000678459, ENST00000678556, ENST00000679091, ENST00000679167, ENST00000679177, ENST00000679303, ENST00000896326, ENST00000896327, ENST00000896328, ENST00000896329, ENST00000896330, ENST00000896331, ENST00000896332, ENST00000896333, ENST00000896334, ENST00000896335, ENST00000896336, ENST00000896337, ENST00000896338, ENST00000896339, ENST00000896340, ENST00000943635, ENST00000943636, ENST00000943637, ENST00000943638, ENST00000943639, ENST00000943640
RefSeq mRNA: 16 — MANE Select: NM_001378100
NM_001003674, NM_001003675, NM_001276249, NM_001276251, NM_001378098, NM_001378099, NM_001378100, NM_001378101, NM_001394662, NM_001394663, NM_001394664, NM_001394665, NM_001394666, NM_001394667, NM_181481, NM_181482
CCDS: CCDS32793, CCDS32794, CCDS32795, CCDS42415, CCDS62392, CCDS92439
Canonical transcript exons
ENST00000359446 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001269476 | 13438244 | 13438384 |
| ENSE00001354297 | 13387341 | 13387762 |
| ENSE00001406954 | 13278105 | 13278188 |
| ENSE00002821696 | 13218760 | 13218988 |
| ENSE00003509727 | 13643359 | 13643412 |
| ENSE00003553777 | 13621117 | 13621271 |
| ENSE00003584051 | 13645127 | 13652751 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 97.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9159 / max 594.0381, expressed in 1064 samples.
FANTOM5 promoters (40 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 169576 | 4.0260 | 289 |
| 169526 | 2.2763 | 669 |
| 169555 | 1.6841 | 395 |
| 169548 | 1.0237 | 177 |
| 169530 | 0.9266 | 304 |
| 169556 | 0.7451 | 298 |
| 169570 | 0.7068 | 245 |
| 169568 | 0.5946 | 171 |
| 169529 | 0.5286 | 197 |
| 169575 | 0.4900 | 178 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 97.09 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.67 | gold quality |
| spinal cord | UBERON:0002240 | 93.18 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.62 | gold quality |
| putamen | UBERON:0001874 | 92.45 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 91.93 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.62 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.42 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.62 | gold quality |
| sural nerve | UBERON:0015488 | 90.54 | gold quality |
| tendon | UBERON:0000043 | 90.38 | gold quality |
| corpus callosum | UBERON:0002336 | 90.37 | gold quality |
| substantia nigra | UBERON:0002038 | 89.66 | gold quality |
| tibia | UBERON:0000979 | 89.61 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.61 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 88.80 | gold quality |
| prostate gland | UBERON:0002367 | 88.61 | gold quality |
| blood vessel layer | UBERON:0004797 | 88.47 | gold quality |
| midbrain | UBERON:0001891 | 88.34 | gold quality |
| body of uterus | UBERON:0009853 | 88.31 | gold quality |
| occipital lobe | UBERON:0002021 | 88.11 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.05 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 88.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.47 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.37 | gold quality |
| ascending aorta | UBERON:0001496 | 87.33 | gold quality |
| nucleus accumbens | UBERON:0001882 | 87.10 | gold quality |
| amygdala | UBERON:0001876 | 86.90 | gold quality |
| thymus | UBERON:0002370 | 86.88 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-30 | yes | 1618.13 |
| E-HCAD-4 | yes | 56.77 |
| E-HCAD-35 | yes | 42.24 |
| E-CURD-119 | yes | 31.71 |
| E-HCAD-25 | yes | 18.17 |
| E-CURD-122 | yes | 15.58 |
| E-CURD-46 | yes | 11.67 |
| E-ANND-3 | yes | 6.88 |
| E-ANND-2 | no | 975.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
197 targeting LDLRAD4, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
Literature-anchored findings (GeneRIF, showing 3)
- Data suggest that C18ORF1 acts as a gatekeeper that abrogates excessive TGF-beta signaling. (PMID:24627487)
- Depletion of LDLRAD4 in HepG2 liver cancer cells inhibited tumorigenesis in nude mice. These results reveal an oncogenic role of LDLRAD4 in tumorigenesis through its association with Nedd4. (PMID:28888937)
- Identification of low-density lipoprotein receptor class A domain containing 4 (LDLRAD4) as a prognostic indicator in primary gastrointestinal stromal tumors. (PMID:32507364)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ldlrad4b | ENSDARG00000054941 |
| danio_rerio | ldlrad4a | ENSDARG00000070555 |
| mus_musculus | Ldlrad4 | ENSMUSG00000024544 |
| rattus_norvegicus | Ldlrad4 | ENSRNOG00000016879 |
| drosophila_melanogaster | CG5151 | FBGN0036576 |
Paralogs (1): PMEPA1 (ENSG00000124225)
Protein
Protein identifiers
Low-density lipoprotein receptor class A domain-containing protein 4 — O15165 (reviewed: O15165)
All UniProt accessions (10): O15165, A0A7I2V2E6, A0A7I2V2Z9, A0A7I2V3Q9, A0A7I2V3W1, A0A7I2V3Z2, A0A7I2V575, A0A7I2YQI3, K7EJM9, K7EMG1
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal.
Subunit / interactions. Interacts with PMEPA1. Interacts (via the SMAD interaction motif) with SMAD2 and SMAD3.
Subcellular location. Early endosome membrane.
Tissue specificity. Expressed in lymphocytes.
Domain organisation. The SMAD interaction motif is required for interaction with SMAD2 and SMAD3 and the negative regulation of TGF-beta signaling.
Similarity. Belongs to the PMEPA1 family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15165-1 | Alpha-1 | yes |
| O15165-2 | Alpha-2 | |
| O15165-3 | Beta-1 | |
| O15165-4 | Beta-2 | |
| O15165-5 | 5 | |
| O15165-6 | 6 | |
| O15165-7 | 7 | |
| O15165-8 | 8 |
RefSeq proteins (15): NP_001003674, NP_001003675, NP_001263178, NP_001365027, NP_001365028, NP_001365029, NP_001365030, NP_001381591, NP_001381592, NP_001381593, NP_001381594, NP_001381595, NP_001381596, NP_852146, NP_852147 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002172 | LDrepeatLR_classA_rpt | Repeat |
| IPR023415 | LDLR_class-A_CS | Conserved_site |
| IPR036055 | LDL_receptor-like_sf | Homologous_superfamily |
| IPR043445 | TMEPAI/LRAD4 | Family |
Pfam: PF00057
UniProt features (20 total): splice variant 5, sequence conflict 3, short sequence motif 3, topological domain 2, disulfide bond 2, chain 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15165-F1 | 58.44 | 0.06 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (2): 19–38, 32–47
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 270 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, WANG_CLIM2_TARGETS_UP, TATTATA_MIR374, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, MAHAJAN_RESPONSE_TO_IL1A_DN, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, ONKEN_UVEAL_MELANOMA_UP, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5
GO Biological Process (5): negative regulation of epithelial to mesenchymal transition (GO:0010719), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of SMAD protein signal transduction (GO:0060392), negative regulation of signal transduction (GO:0009968)
GO Molecular Function (2): R-SMAD binding (GO:0070412), protein binding (GO:0005515)
GO Cellular Component (4): Golgi membrane (GO:0000139), membrane (GO:0016020), early endosome membrane (GO:0031901), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2 |
| epithelial to mesenchymal transition | 1 |
| regulation of epithelial to mesenchymal transition | 1 |
| negative regulation of cell differentiation | 1 |
| negative regulation of multicellular organismal process | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| regulation of SMAD protein signal transduction | 1 |
| SMAD protein signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| signal transduction | 1 |
| regulation of signal transduction | 1 |
| negative regulation of cell communication | 1 |
| negative regulation of signaling | 1 |
| negative regulation of response to stimulus | 1 |
| SMAD binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
1848 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LDLRAD4 | TSC22D1 | Q15714 | 720 |
| LDLRAD4 | TPT1 | P13693 | 535 |
| LDLRAD4 | AR | P10275 | 525 |
| LDLRAD4 | TSC22D3 | Q99576 | 366 |
| LDLRAD4 | MC5R | P33032 | 333 |
| LDLRAD4 | ISM1 | B1AKI9 | 324 |
| LDLRAD4 | ARMC12 | Q5T9G4 | 306 |
| LDLRAD4 | TMEM158 | Q8WZ71 | 304 |
| LDLRAD4 | MIMS1 | Q96ND0 | 303 |
| LDLRAD4 | KANK4 | Q5T7N3 | 302 |
| LDLRAD4 | ZFYVE9 | O95405 | 300 |
| LDLRAD4 | CCDC144A | A2RUR9 | 287 |
| LDLRAD4 | HEPACAM | Q14CZ8 | 277 |
| LDLRAD4 | LMNTD2 | Q8IXW0 | 270 |
| LDLRAD4 | MC2R | Q01718 | 268 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEDD4 | LDLRAD4 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| LDLRAD4 | NEDD4 | psi-mi:“MI:0914”(association) | 0.690 |
| LDLRAD4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| TFAP2C | LDLRAD4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KATNA1 | LDLRAD4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (131): RTFDC1 (Affinity Capture-MS), HECW2 (Affinity Capture-MS), HECW1 (Affinity Capture-MS), WWP2 (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), ITCH (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), WWP1 (Affinity Capture-MS), TAX1BP1 (Affinity Capture-MS), WWC2 (Affinity Capture-MS), KIDINS220 (Affinity Capture-MS), NCAPD3 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), ARFGEF2 (Affinity Capture-MS), UBR1 (Affinity Capture-MS)
ESM2 similar proteins: A2AR95, A4IHY6, B7ZWI3, D3ZF92, O15165, O43278, O75509, O88204, P98153, P98154, Q0VBF2, Q1L8G6, Q29RU0, Q4KMG9, Q566M8, Q5DTZ6, Q5HZW5, Q5R662, Q5R8E0, Q5RD34, Q5RF74, Q5VUB5, Q61003, Q68FU0, Q6AXS2, Q6NRX0, Q6UWW9, Q6ZPS6, Q6ZUJ8, Q7TQH7, Q86YD5, Q8BGN6, Q8BLD6, Q8BUJ9, Q8R182, Q8TEB7, Q8WUU8, Q91ZV2, Q91ZV3, Q96PD2
Diamond homologs: D2KUZ7, O15165, Q8BWJ4, Q969W9, Q9D7R2, E9Q6D8, P13671, P61134, P61135, Q29RU4, Q811M5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6078 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:13438292:T:A | acceptor_gain | 1.0000 |
| 18:13438381:AACT:A | donor_gain | 1.0000 |
| 18:13438382:ACT:A | donor_gain | 1.0000 |
| 18:13438383:CT:C | donor_gain | 1.0000 |
| 18:13438383:CTGTA:C | donor_loss | 1.0000 |
| 18:13438384:TGTAA:T | donor_loss | 1.0000 |
| 18:13438385:G:GA | donor_loss | 1.0000 |
| 18:13438385:G:GG | donor_gain | 1.0000 |
| 18:13438386:TA:T | donor_loss | 1.0000 |
| 18:13438387:AA:A | donor_loss | 1.0000 |
| 18:13621110:A:AG | acceptor_gain | 1.0000 |
| 18:13621110:AT:A | acceptor_gain | 1.0000 |
| 18:13621111:T:A | acceptor_gain | 1.0000 |
| 18:13621111:T:G | acceptor_gain | 1.0000 |
| 18:13621112:G:A | acceptor_gain | 1.0000 |
| 18:13621112:GGCA:G | acceptor_loss | 1.0000 |
| 18:13621113:GCAG:G | acceptor_loss | 1.0000 |
| 18:13621114:CAGC:C | acceptor_loss | 1.0000 |
| 18:13621115:A:AG | acceptor_gain | 1.0000 |
| 18:13621115:AGC:A | acceptor_gain | 1.0000 |
| 18:13621115:AGCG:A | acceptor_gain | 1.0000 |
| 18:13621116:G:GA | acceptor_gain | 1.0000 |
| 18:13621116:GC:G | acceptor_gain | 1.0000 |
| 18:13621116:GCG:G | acceptor_gain | 1.0000 |
| 18:13621116:GCGG:G | acceptor_gain | 1.0000 |
| 18:13621116:GCGGA:G | acceptor_gain | 1.0000 |
| 18:13621268:GCAG:G | donor_gain | 1.0000 |
| 18:13621270:AGGT:A | donor_loss | 1.0000 |
| 18:13621272:G:GG | donor_gain | 1.0000 |
| 18:13621272:GTG:G | donor_loss | 1.0000 |
AlphaMissense
2038 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:13438297:T:A | C32S | 0.999 |
| 18:13438298:G:C | C32S | 0.999 |
| 18:13438315:T:A | C38S | 0.999 |
| 18:13438316:G:A | C38Y | 0.999 |
| 18:13438316:G:C | C38S | 0.999 |
| 18:13645251:T:A | I172N | 0.999 |
| 18:13645366:C:A | N210K | 0.999 |
| 18:13645366:C:G | N210K | 0.999 |
| 18:13438259:G:A | C19Y | 0.998 |
| 18:13438260:C:G | C19W | 0.998 |
| 18:13438297:T:C | C32R | 0.998 |
| 18:13438298:G:A | C32Y | 0.998 |
| 18:13438315:T:C | C38R | 0.998 |
| 18:13438317:T:G | C38W | 0.998 |
| 18:13645251:T:C | I172T | 0.998 |
| 18:13645251:T:G | I172S | 0.998 |
| 18:13645335:T:C | L200P | 0.998 |
| 18:13645359:C:A | P208Q | 0.998 |
| 18:13645368:G:C | R211P | 0.998 |
| 18:13438252:T:C | F17L | 0.997 |
| 18:13438254:C:A | F17L | 0.997 |
| 18:13438254:C:G | F17L | 0.997 |
| 18:13438258:T:A | C19S | 0.997 |
| 18:13438258:T:C | C19R | 0.997 |
| 18:13438259:G:C | C19S | 0.997 |
| 18:13438299:T:G | C32W | 0.997 |
| 18:13438316:G:T | C38F | 0.997 |
| 18:13438330:G:C | D43H | 0.997 |
| 18:13438330:G:T | D43Y | 0.997 |
| 18:13438344:T:G | C47W | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000015134 (18:13582372 G>A,T), RS1000025389 (18:13241094 A>G), RS1000029530 (18:13423911 G>A), RS1000038400 (18:13481640 G>A), RS1000049350 (18:13541228 A>G), RS1000049929 (18:13503988 A>G), RS1000051040 (18:13619618 G>A), RS1000056073 (18:13624511 T>A), RS1000056407 (18:13326926 A>G), RS1000059264 (18:13406207 C>G,T), RS1000064020 (18:13273269 G>A), RS1000065067 (18:13554544 C>G,T), RS1000067122 (18:13319307 T>G), RS1000074955 (18:13437387 A>G), RS1000076650 (18:13400219 A>G)
Disease associations
OMIM: gene MIM:606571 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001749_1 | Pancreatic cancer | 6.000000e-07 |
| GCST003059_20 | Parkinson’s disease | 1.000000e-06 |
| GCST003854_35 | Gut microbiota (functional units) | 3.000000e-08 |
| GCST004485_60 | Survival in pancreatic cancer | 2.000000e-07 |
| GCST006444_11 | Bone mineral density (hip) | 3.000000e-06 |
| GCST006976_137 | Macular thickness | 4.000000e-08 |
| GCST007666_3 | Depressive symptom improvement | 7.000000e-07 |
| GCST009028_18 | Adverse response to drug | 9.000000e-09 |
| GCST009028_58 | Adverse response to drug | 2.000000e-08 |
| GCST012490_571 | Femur bone mineral density x serum urate levels interaction | 3.000000e-11 |
| GCST90002400_238 | Plateletcrit | 4.000000e-10 |
| GCST90011900_154 | Serum alkaline phosphatase levels | 1.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0000638 | overall survival |
| EFO:0007702 | hip bone mineral density |
| EFO:0007006 | depressive symptom measurement |
| EFO:0009658 | adverse effect |
| EFO:0004531 | urate measurement |
| EFO:0007985 | platelet crit |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects expression, affects methylation, decreases expression, increases methylation | 7 |
| Valproic Acid | affects expression, decreases expression, increases expression | 5 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression, decreases expression | 3 |
| Aflatoxin B1 | affects expression, affects methylation, decreases methylation | 3 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Selenium | decreases reaction, increases expression | 2 |
| Tamoxifen | affects expression, affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| sotorasib | increases expression, affects cotreatment | 1 |
| biochanin A | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | affects methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| pentanal | increases expression | 1 |
| abrine | decreases expression | 1 |
| licochalcone B | increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Amphotericin B | increases expression | 1 |
| Cadmium | increases expression, decreases reaction | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): exocrine pancreatic carcinoma, Parkinson disease