Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5157
Gene name Gene Name - the full gene name approved by the HGNC.
Platelet derived growth factor receptor like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDGFRL
Synonyms (NCBI Gene) Gene synonyms aliases
PDGRL, PRLTS
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p22
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853148 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029428 hsa-miR-26b-5p Microarray 19088304
MIRT050268 hsa-miR-25-3p CLASH 23622248
MIRT1221275 hsa-miR-1257 CLIP-seq
MIRT1221276 hsa-miR-141 CLIP-seq
MIRT1221277 hsa-miR-200a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004992 Function Platelet activating factor receptor activity TAS 7898930
GO:0005019 Function Platelet-derived growth factor beta-receptor activity TAS 7898930
GO:0005575 Component Cellular_component ND
GO:0005576 Component Extracellular region IEA
GO:0007186 Process G protein-coupled receptor signaling pathway IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604584 8805 ENSG00000104213
Protein
UniProt ID Q15198
Protein name Platelet-derived growth factor receptor-like protein (PDGFR-like protein) (PDGF receptor beta-like tumor suppressor)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 271 361 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colon, lung and liver. {ECO:0000269|PubMed:7898930}.
Sequence
MKVWLLLGLLLVHEALEDVTGQHLPKNKRPKEPGENRIKPTNKKVKPKIPKMKDRDSANS
APKTQSIMMQVLDKGRFQKPAATLSLLAGQTVELRCKGSRIGWSYPAYLDTFKDSRLSVK
QNERYGQLTLVNSTSADTGEFSCWVQLCSGYICRKDEAKTGSTYIFFTEKGELFVPSPSY
FDVVYLNPDRQAVVPCRVTVLSAKVTLHREFPAKEIPANGTDIVYDMKRGFVYLQPHSEH
QGVVYCRAEAGGRSQISVKYQLLYVAVPSGPPSTTILASSNKVKSGDDISVLCTVLGEPD
VEVEFTWIFPGQKDERPVTIQDTWRLIHRGLGHTTRISQSVITVEDFETIDAGYYICTAQ
N
LQGQTTVATTVEFS
Sequence length 375
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
7898930
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 28501704
Carcinoma Basal Cell Associate 17273163
Colorectal Neoplasms Inhibit 20333786
Endometriosis Associate 36524127
Intellectual Disability Associate 21513506
Neoplasms Inhibit 16270321, 18366601
Neoplasms Associate 20333786, 9197531
Ovarian Neoplasms Associate 16270321
Prostatic Neoplasms Associate 9197531