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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. [provided by RefSeq, Jul 2008]
PDGFRL (Platelet Derived Growth Factor Receptor Like) is a Protein Coding gene. Diseases associated with PDGFRL include Colorectal Cancer and Hepatocellular Carcinoma. Gene Ontology (GO) annotations related to this gene include platelet activating factor receptor activity and platelet-derived growth factor beta-receptor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004992 | platelet activating factor receptor activity | TAS | 7898930 |
GO:0005019 | platelet-derived growth factor beta-receptor activity | TAS | 7898930 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005576 | extracellular region | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007186 | G protein-coupled receptor signaling pathway | IEA | -- |
GO:0008150 | biological_process | ND | -- |
GO:0035791 | platelet-derived growth factor receptor-beta signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Crenolanib (CP-868596) | Pharma | PDGFR-β inhibitor,potent and selective | 0 |
Compound | Action | Cas Number |
---|---|---|
Crenolanib (CP-868596) | PDGFR-β inhibitor,potent and selective | 670220-88-9 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PDGFRL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PDGFRL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PDGFRL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pdgfrl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pdgfrl 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PDGFRL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PDGFRL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PDGFRL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PDGFRL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdgfrl 30 |
|
||
Str.8504 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23703 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pdgfrl 30 31 |
|
OneToOne | |
zgc56104 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115588653 | Likely Benign: not provided | 17,577,264(+) |
G/T NM_001372073.1(PDGFRL):c.12G>T (p.Trp4Cys) |
MISSENSE | |
rs137853148 | Pathogenic: Carcinoma of colon. Colorectal cancer (CRC) [MIM:114500] | 17,589,479(+) |
C/Tp.His23Tyr NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr) |
MISSENSE | |
rs35704589 | Benign: not provided | 17,589,618(+) |
T/C NM_001372073.1(PDGFRL):c.206T>C (p.Met69Thr) |
MISSENSE | |
rs61733860 | Benign: not provided | 17,589,661(+) |
C/A NM_001372073.1(PDGFRL):c.249C>A (p.Thr83=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2670212 | CNV | deletion | 23128226 |
esv2676506 | CNV | deletion | 23128226 |
esv2759600 | CNV | loss | 17122850 |
esv2761191 | CNV | loss | 21179565 |
esv2764066 | CNV | gain+loss | 21179565 |
esv34867 | CNV | loss | 17911159 |
esv3616489 | CNV | loss | 21293372 |
esv3616490 | CNV | loss | 21293372 |
esv3616491 | CNV | loss | 21293372 |
esv3616492 | CNV | loss | 21293372 |
esv3616493 | CNV | loss | 21293372 |
esv3891363 | CNV | loss | 25118596 |
esv3891364 | CNV | gain | 25118596 |
esv989082 | CNV | deletion | 20482838 |
nsv516779 | CNV | gain+loss | 19592680 |
nsv516988 | CNV | loss | 19592680 |
nsv818612 | CNV | loss | 17921354 |
nsv824559 | CNV | loss | 20364138 |
nsv8306 | CNV | loss | 18304495 |
nsv831246 | CNV | gain | 17160897 |
nsv831247 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
colorectal cancer |
|
|
hepatocellular carcinoma |
|
|
adult hepatocellular carcinoma |
|
|
deafness, autosomal recessive 71 |
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 |
|
|