PDGFRL
geneOn this page
Also known as PRLTS
Summary
PDGFRL (platelet derived growth factor receptor like, HGNC:8805) is a protein-coding gene on chromosome 8p22, encoding Platelet-derived growth factor receptor-like protein (Q15198).
This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor.
Source: NCBI Gene 5157 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 105 total — 2 pathogenic
- Phenotypes (HPO): 11
- MANE Select transcript:
NM_001372073
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8805 |
| Approved symbol | PDGFRL |
| Name | platelet derived growth factor receptor like |
| Location | 8p22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRLTS |
| Ensembl gene | ENSG00000104213 |
| Ensembl biotype | protein_coding |
| OMIM | 604584 |
| Entrez | 5157 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000251630, ENST00000523248, ENST00000541323, ENST00000673645, ENST00000959618
RefSeq mRNA: 2 — MANE Select: NM_001372073
NM_001372073, NM_006207
CCDS: CCDS6003
Canonical transcript exons
ENST00000251630 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000681771 | 17589468 | 17589765 |
| ENSE00000681776 | 17621051 | 17621202 |
| ENSE00000681782 | 17628487 | 17628780 |
| ENSE00000681789 | 17634074 | 17634213 |
| ENSE00003896565 | 17577216 | 17577307 |
| ENSE00003897004 | 17642613 | 17643144 |
Expression profiles
Bgee: expression breadth ubiquitous, 236 present calls, max score 96.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7473 / max 198.4371, expressed in 1169 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 87549 | 5.6861 | 1164 |
| 87548 | 0.0612 | 22 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pericardium | UBERON:0002407 | 96.37 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.15 | gold quality |
| synovial joint | UBERON:0002217 | 96.14 | gold quality |
| tibial nerve | UBERON:0001323 | 95.54 | gold quality |
| vena cava | UBERON:0004087 | 95.30 | gold quality |
| oocyte | CL:0000023 | 94.32 | gold quality |
| tibia | UBERON:0000979 | 94.21 | gold quality |
| secondary oocyte | CL:0000655 | 94.10 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.79 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 92.44 | gold quality |
| nipple | UBERON:0002030 | 92.15 | gold quality |
| left ovary | UBERON:0002119 | 91.66 | gold quality |
| parietal pleura | UBERON:0002400 | 91.55 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.54 | gold quality |
| upper arm skin | UBERON:0004263 | 91.17 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 90.80 | gold quality |
| tendon | UBERON:0000043 | 90.77 | gold quality |
| right ovary | UBERON:0002118 | 90.68 | gold quality |
| mammary gland | UBERON:0001911 | 90.48 | gold quality |
| peritoneum | UBERON:0002358 | 89.98 | gold quality |
| omental fat pad | UBERON:0010414 | 89.98 | gold quality |
| saphenous vein | UBERON:0007318 | 89.91 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 89.80 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 89.78 | gold quality |
| ovary | UBERON:0000992 | 89.24 | gold quality |
| skin of hip | UBERON:0001554 | 88.97 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.82 | gold quality |
| thyroid gland | UBERON:0002046 | 88.65 | gold quality |
| periodontal ligament | UBERON:0008266 | 88.61 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.35 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
31 targeting PDGFRL, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-4463 | 98.56 | 66.05 | 1071 |
| HSA-MIR-633 | 98.35 | 69.45 | 1167 |
| HSA-MIR-617 | 96.79 | 65.96 | 738 |
Literature-anchored findings (GeneRIF, showing 3)
- Results indicate that PDGFRL functions as a tumor suppressor, inhibiting the growth of colorectal cancer cells. (PMID:20333786)
- Data indicate the association between SNP rs17633132:C/T in PDGFRL with Behcet disease and suggest that the PDGFRL gene may be involved in Behcet disease by modulating its transcription. (PMID:22926996)
- review elucidates the role of tumor stroma interactions, the roles of PDGF receptor signaling in cancer-associated fibroblasts via alteration of stromal matrix composition and the mitogenic effects of cancer-derived PDGFs. (PMID:23944365)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pdgfrl | ENSDARG00000006456 |
| mus_musculus | Pdgfrl | ENSMUSG00000031595 |
| rattus_norvegicus | Pdgfrl | ENSRNOG00000010832 |
Protein
Protein identifiers
Platelet-derived growth factor receptor-like protein — Q15198 (reviewed: Q15198)
Alternative names: PDGF receptor beta-like tumor suppressor
All UniProt accessions (2): A0A669KBD1, Q15198
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Forms a complex composed of PDGFRL, TNK2 and GRB2.
Subcellular location. Secreted.
Tissue specificity. Expressed in colon, lung and liver.
Disease relevance. Colorectal cancer (CRC) [MIM:114500] A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. The gene represented in this entry is involved in disease pathogenesis. A polymorphism in PDGFRL has been reported to be associated with susceptibility to Behcet disease. Behcet disease is a complex multiple-system disorder characterized by recurrent oral ulcerations, recurrent genital ulcerations, typical skin lesions, and uveitis. Behcet disease also involves joints, blood vessels, musculoskeletal, neurological systems, and the gastrointestinal tract.
RefSeq proteins (2): NP_001359002, NP_006198 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR042495 | PDGFRL | Family |
Pfam: PF13927, PF21339
UniProt features (12 total): domain 2, glycosylation site 2, disulfide bond 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15198-F1 | 83.54 | 0.73 |
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): 96–143, 293–357
Glycosylation sites (2): 132, 219
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 194 (showing top):
GOBP_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, MODULE_64, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, KYNG_DNA_DAMAGE_DN, KYNG_DNA_DAMAGE_BY_4NQO, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, BROWNE_HCMV_INFECTION_48HR_DN, BOQUEST_STEM_CELL_CULTURED_VS_FRESH_DN, ROZANOV_MMP14_TARGETS_UP, GOBP_RESPONSE_TO_PLATELET_DERIVED_GROWTH_FACTOR, MODULE_99, CORRE_MULTIPLE_MYELOMA_UP, ONDER_CDH1_TARGETS_2_UP, MODULE_259
GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), platelet-derived growth factor receptor-beta signaling pathway (GO:0035791), cellular response to platelet-derived growth factor stimulus (GO:0036120), platelet-derived growth factor receptor signaling pathway (GO:0048008)
GO Molecular Function (3): platelet activating factor receptor activity (GO:0004992), platelet-derived growth factor beta-receptor activity (GO:0005019), platelet-derived growth factor receptor activity (GO:0005017)
GO Cellular Component (1): extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| G protein-coupled receptor activity | 2 |
| platelet-derived growth factor receptor signaling pathway | 2 |
| signal transduction | 1 |
| response to platelet-derived growth factor | 1 |
| cellular response to growth factor stimulus | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| platelet-derived growth factor receptor activity | 1 |
| platelet-derived growth factor receptor-beta signaling pathway | 1 |
| transmembrane receptor protein tyrosine kinase activity | 1 |
| cellular response to platelet-derived growth factor stimulus | 1 |
| platelet-derived growth factor binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1050 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PDGFRL | TUSC3 | Q13454 | 962 |
| PDGFRL | PDGFC | Q9NRA1 | 559 |
| PDGFRL | ERAL1 | O75616 | 432 |
| PDGFRL | SCOC | Q9UIL1 | 412 |
| PDGFRL | PDGFD | Q9GZP0 | 370 |
| PDGFRL | LARS2 | Q15031 | 370 |
| PDGFRL | HSD17B4 | P51659 | 368 |
| PDGFRL | FLT4 | P35916 | 364 |
| PDGFRL | ZC2HC1C | Q53FD0 | 364 |
| PDGFRL | TWNK | Q96RR1 | 354 |
| PDGFRL | GABARAPL2 | P60520 | 353 |
| PDGFRL | HTR3B | O95264 | 353 |
| PDGFRL | CHRNA6 | Q15825 | 353 |
| PDGFRL | SCRIB | Q14160 | 353 |
| PDGFRL | NRP2 | O60462 | 353 |
| PDGFRL | F7 | P08709 | 353 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACTR1A | DCTN2 | psi-mi:“MI:0914”(association) | 0.790 |
| PDGFRL | ANKRD28 | psi-mi:“MI:0914”(association) | 0.530 |
| SGSM1 | CETN2 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFRL | HS3ST1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PDGFRL | ASPH | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK12 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | MBP | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | PFKM | psi-mi:“MI:0915”(physical association) | 0.370 |
| RANGAP1 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| SPARCL1 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM129 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| BAAT | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| CTSV | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | FANCC | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | FBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | HRAS | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCDC180 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAP2K1 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | MAPKAPK3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | NANS | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | PPP2CB | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP3R2 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| SFRP4 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | SMAD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TBC1D2 | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDGFRL | TGFB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| XPA | PDGFRL | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (41): BAAT (Two-hybrid), CTSV (Two-hybrid), FANCC (Two-hybrid), FBP2 (Two-hybrid), HRAS (Two-hybrid), CCDC180 (Two-hybrid), MAP2K1 (Two-hybrid), MAPK3 (Two-hybrid), NANS (Two-hybrid), PPP2CB (Two-hybrid), PPP3R2 (Two-hybrid), SFRP4 (Two-hybrid), SMAD1 (Two-hybrid), TBC1D2 (Two-hybrid), TGFB1 (Two-hybrid)
ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, B0JYH6, F1LW30, O35112, O46634, O46651, P0C673, P17948, P26453, P35969, P42292, P53767, Q08DK1, Q13740, Q15198, Q1WIM2, Q2PFX1, Q504C1, Q58EG3, Q5DX21, Q5FWR8, Q5R412, Q5RJP7, Q5U2P2, Q5VJ70, Q61490, Q6DJ83, Q6PE55, Q6UXZ4, Q6X936, Q7T2Z5, Q7TSN7, Q80W68, Q8BLQ9, Q8BR86, Q8IZU9, Q8K1S2, Q8N3J6, Q8QHL3
Diamond homologs: Q15198, Q2PFX1, Q5BIP2, Q5RJP7, Q6PE55, Q05030
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 42 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| MAPK cascade | 6 | 24.2× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 82 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 5468 | NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr) | Pathogenic |
| 5469 | PDGRL, 2-BP DEL | Pathogenic |
SpliceAI
1092 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:17589457:A:AG | acceptor_gain | 1.0000 |
| 8:17589458:C:CA | acceptor_gain | 1.0000 |
| 8:17589458:C:G | acceptor_gain | 1.0000 |
| 8:17589464:GCAGT:G | acceptor_loss | 1.0000 |
| 8:17589465:CA:C | acceptor_loss | 1.0000 |
| 8:17589466:A:AG | acceptor_gain | 1.0000 |
| 8:17589466:A:T | acceptor_loss | 1.0000 |
| 8:17589467:G:GG | acceptor_gain | 1.0000 |
| 8:17589467:GT:G | acceptor_gain | 1.0000 |
| 8:17589467:GTT:G | acceptor_gain | 1.0000 |
| 8:17589467:GTTA:G | acceptor_gain | 1.0000 |
| 8:17589762:TCAGG:T | donor_loss | 1.0000 |
| 8:17589764:AGGT:A | donor_loss | 1.0000 |
| 8:17589765:GGT:G | donor_loss | 1.0000 |
| 8:17589766:G:GG | donor_gain | 1.0000 |
| 8:17589766:GTAA:G | donor_loss | 1.0000 |
| 8:17589767:T:A | donor_loss | 1.0000 |
| 8:17621049:A:AG | acceptor_gain | 1.0000 |
| 8:17621050:G:GG | acceptor_gain | 1.0000 |
| 8:17621050:GC:G | acceptor_gain | 1.0000 |
| 8:17634072:A:AG | acceptor_gain | 1.0000 |
| 8:17634073:G:GG | acceptor_gain | 1.0000 |
| 8:17634210:GAAG:G | donor_gain | 1.0000 |
| 8:17634211:AAGG:A | donor_loss | 1.0000 |
| 8:17634214:G:GA | donor_loss | 1.0000 |
| 8:17634214:G:GG | donor_gain | 1.0000 |
| 8:17634215:T:G | donor_loss | 1.0000 |
| 8:17589457:AC:A | acceptor_gain | 0.9900 |
| 8:17589463:T:A | acceptor_gain | 0.9900 |
| 8:17589467:GTTAC:G | acceptor_gain | 0.9900 |
AlphaMissense
2443 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:17628502:T:G | F174C | 0.999 |
| 8:17589698:T:A | C96S | 0.997 |
| 8:17589699:G:C | C96S | 0.997 |
| 8:17628562:T:A | V194D | 0.997 |
| 8:17628567:T:C | C196R | 0.997 |
| 8:17628568:G:A | C196Y | 0.997 |
| 8:17628717:T:A | C246S | 0.997 |
| 8:17628718:G:A | C246Y | 0.997 |
| 8:17628718:G:C | C246S | 0.997 |
| 8:17628719:C:G | C246W | 0.997 |
| 8:17589721:G:C | W103C | 0.996 |
| 8:17589721:G:T | W103C | 0.996 |
| 8:17621126:C:G | C143W | 0.996 |
| 8:17628567:T:A | C196S | 0.996 |
| 8:17628568:G:C | C196S | 0.996 |
| 8:17628717:T:C | C246R | 0.996 |
| 8:17589698:T:C | C96R | 0.995 |
| 8:17589719:T:A | W103R | 0.995 |
| 8:17589719:T:C | W103R | 0.995 |
| 8:17621125:G:A | C143Y | 0.995 |
| 8:17634151:T:A | C293S | 0.995 |
| 8:17634151:T:C | C293R | 0.995 |
| 8:17634152:G:C | C293S | 0.995 |
| 8:17634193:T:A | W307R | 0.995 |
| 8:17634193:T:C | W307R | 0.995 |
| 8:17642744:C:G | C357W | 0.995 |
| 8:17589693:T:C | L94P | 0.994 |
| 8:17589699:G:A | C96Y | 0.994 |
| 8:17621124:T:C | C143R | 0.994 |
| 8:17628569:T:G | C196W | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000002260 (8:17594664 C>T), RS1000028112 (8:17619583 C>T), RS1000110290 (8:17618456 T>C), RS1000255244 (8:17603466 C>G,T), RS1000349014 (8:17603694 T>C), RS1000396242 (8:17639922 G>C), RS1000411330 (8:17604888 T>C,G), RS1000507858 (8:17587845 G>A,C), RS1000515568 (8:17615324 G>A), RS1000522177 (8:17591542 G>A,T), RS1000535326 (8:17619757 A>C,G), RS1000542286 (8:17642945 A>G,T), RS1000553400 (8:17616537 T>C), RS1000593482 (8:17590808 A>T), RS1000655611 (8:17576092 T>C)
Disease associations
OMIM: gene MIM:604584 | disease phenotypes: MIM:114550
GenCC curated gene-disease
Mondo (2): colon carcinoma (MONDO:0002032), hepatocellular carcinoma (MONDO:0007256)
Orphanet (1): Hepatocellular carcinoma (Orphanet:88673)
HPO phenotypes
11 total (11 of 11 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001413 | Micronodular cirrhosis |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0002891 | Uterine leiomyosarcoma |
| HP:0003003 | Colon cancer |
| HP:0005584 | Renal cell carcinoma |
| HP:0006572 | Subacute progressive viral hepatitis |
| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma |
| HP:0006740 | Transitional cell carcinoma of the bladder |
| HP:0006753 | Neoplasm of the stomach |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002337_134 | Amyotrophic lateral sclerosis (sporadic) | 6.000000e-06 |
| GCST005844_7 | Placental abruption | 5.000000e-06 |
| GCST006431_22 | Plasma parathyroid hormone levels | 5.000000e-06 |
| GCST007004_2 | Hippocampal volume in normal cognition | 5.000000e-09 |
| GCST007382_19 | Plasma free amino acid levels (adjusted for twenty other PFAAs) | 2.000000e-08 |
| GCST007382_5 | Plasma free amino acid levels (adjusted for twenty other PFAAs) | 3.000000e-08 |
| GCST008865_4 | Sphingomyelin 24:0 levels | 6.000000e-07 |
| GCST009307_5 | Spatial memory | 8.000000e-07 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005035 | hippocampal volume |
| EFO:0005134 | amino acid measurement |
| EFO:0009776 | ornithine measurement |
| EFO:0006524 | L-arginine measurement |
| EFO:0010118 | sphingomyelin measurement |
| EFO:0004874 | memory performance |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006528 | Carcinoma, Hepatocellular | C04.557.470.200.025.255; C04.588.274.623.160; C06.301.623.160; C06.552.697.160 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| Benzo(a)pyrene | decreases expression, increases methylation | 4 |
| sodium arsenite | affects methylation, decreases expression, increases expression | 3 |
| bisphenol A | increases expression, increases methylation | 2 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Dexamethasone | increases expression, decreases expression, affects cotreatment | 2 |
| Estradiol | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| methylmercuric chloride | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 1-nitropyrene | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| dinophysistoxin 1 | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Amiodarone | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01169220 | PHASE4 | COMPLETED | Bowel Preparation for Inpatient Colonoscopy |
| NCT01170754 | PHASE4 | COMPLETED | Miralax (PEG 3350) vs. Golytely as Bowel Preparation for Screening Colonoscopy |
| NCT02052557 | PHASE4 | COMPLETED | The Effect of Exparel on Post Operative Pain and Narcotic Use After Colon Surgery |
| NCT02078726 | PHASE4 | COMPLETED | Glucagon Use in Colonoscopies |
| NCT02231203 | PHASE4 | COMPLETED | Effect of Omega-3 Fatty Acids on the Perioperative Immune Response and Erythrocyte Function |
| NCT02314871 | PHASE4 | COMPLETED | Effects of Different Types of Perioperative Analgesia on Minimal Residual Disease Development After Colon Cancer Surgery |
| NCT02746432 | PHASE4 | UNKNOWN | Insulin Therapy Reduce Post-Operative Inflammatory Response After Curative Colorectal Cancer Resection: Randomization Controlled Trial |
| NCT02887365 | PHASE4 | UNKNOWN | A Phase II Study of Tegafur-Uracil as Maintenance Chemotherapy in Patients With Stage II of Colon Cancer |
| NCT02937506 | PHASE4 | COMPLETED | Patient Satisfaction With Propofol for Out Patient Colonoscopy |
| NCT02958566 | PHASE4 | UNKNOWN | Multimodal Narcotic Limited Perioperative Pain Control With Colorectal Surgery |
| NCT04269369 | PHASE4 | UNKNOWN | Implementation of Pre-emptive Geno- and Phenotyping in 5-Fluorouracil- or Capecitabine-treated Patients |
| NCT04311099 | PHASE4 | COMPLETED | Optimal Peripheral Nerve Block After Minimally Invasive Colon Surgery |
| NCT04709770 | PHASE4 | UNKNOWN | Low-volume vs High-volume Polyethylene Glycol Based Bowel Preparation for Colonoscopy in People Receiving Hemodialysis |
| NCT05250648 | PHASE4 | RECRUITING | Clinical Trial on HIPEC With Mitomycin C in Colon Cancer Peritoneal Metastases (GECOP-MMC) |
| NCT00002968 | PHASE3 | COMPLETED | Edrecolomab in Treating Patients With Stage II Colon Cancer |
| NCT00003835 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Patients With Stage III Colon Cancer |
| NCT00003873 | PHASE3 | COMPLETED | Fluorouracil With or Without Eniluracil in Treating Patients With Advanced Colorectal Cancer |
| NCT00004931 | PHASE3 | COMPLETED | Fluorouracil Plus Leucovorin With or Without Oxaliplatin in Treating Patients With Stage II or Stage III Colon Cancer |
| NCT00005036 | PHASE3 | COMPLETED | Irinotecan Compared With Combination Chemotherapy in Treating Patients With Advanced Colorectal Cancer |
| NCT00005094 | PHASE3 | COMPLETED | Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps |
| NCT00025337 | PHASE3 | COMPLETED | Combination Chemotherapy With or Without Bevacizumab Compared With Bevacizumab Alone in Treating Patients With Advanced or Metastatic Colorectal Cancer That Has Been Previously Treated |
| NCT00070122 | PHASE3 | TERMINATED | Combination Chemotherapy and Bevacizumab in Treating Patients With Locally Advanced, Metastatic, or Recurrent Colorectal Cancer |
| NCT00079274 | PHASE3 | COMPLETED | Comparison of Combination Chemotherapy Regimens With or Without Cetuximab in Treating Patients Who Have Undergone Surgery For Stage III Colon Cancer |
| NCT00096278 | PHASE3 | COMPLETED | Fluorouracil, Leucovorin, and Oxaliplatin With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II or Stage III Colon Cancer |
| NCT00188305 | PHASE3 | COMPLETED | A Randomized Trial of Cancer Risk and Health Education in Relatives of Colorectal Cancer Patients |
| NCT00195585 | PHASE3 | COMPLETED | Study Evaluating Isovorin in Colon Cancer |
| NCT00217737 | PHASE3 | ACTIVE_NOT_RECRUITING | Oxaliplatin, Leucovorin, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer |
| NCT00230646 | PHASE3 | COMPLETED | Promoting Physical Activity After Colorectal Cancer |
| NCT00309530 | PHASE3 | COMPLETED | Randomized Study on Adjuvant Chemotherapy and Adjuvant Chemo-Immunotherapy in Colon Carcinoma Dukes C |
| NCT00309543 | PHASE3 | COMPLETED | Randomized Trial on Adjuvant Chemotherapy in Colon Carcinoma Dukes B |
| NCT00337389 | PHASE3 | UNKNOWN | Phase III Randomized Study of 5-FU, CoFactor, and Avastin vs. 5-FU, LV and Avastin for First-Line Colorectal Cancer. |
| NCT00467922 | PHASE3 | COMPLETED | An Assessment of Goal-Directed Intraoperative Fluid Management in Hand Assisted Laparoscopic Colectomy |
| NCT00499369 | PHASE3 | TERMINATED | Irinotecan and Cetuximab With or Without Bevacizumab in Treating Patients With Metastatic Colorectal Cancer That Progressed During First-Line Therapy |
| NCT00509444 | PHASE3 | COMPLETED | Cancer Prevention and Treatment Among African American Older Adults: Treatment Trial |
| NCT00646607 | PHASE3 | COMPLETED | FOLFOX-4 3months Versus 6 Months and Bevacizumab as Adjuvant Therapy for Patients With Stage II/III Colon Cancer |
| NCT00687830 | PHASE3 | COMPLETED | Efficacy of Morning-only Bowel Preparation for Afternoon Colonoscopy. |
| NCT00756548 | PHASE3 | COMPLETED | BLI850-302: BLI850 vs an Approved Active Control Bowel Preparation in Adult Subjects Undergoing Colonoscopy |
| NCT00756977 | PHASE3 | COMPLETED | BLI850 vs an Active Control Bowel Preparation in Adult Subjects Undergoing Colonoscopy |
| NCT00894725 | PHASE3 | COMPLETED | Laparoscopic Versus Open Left Colonic Resection |
| NCT00911170 | PHASE3 | COMPLETED | PAVES: Pegfilgrastim Anti-vascular Endothelial Growth Factor (VEGF) Evaluation Study |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): colon carcinoma, hepatocellular carcinoma, placental abruption