PDGFRL (platelet derived growth factor receptor like)

Gene

• Entrez ID: 5157
• Gene name: Platelet derived growth factor receptor like
• Gene symbol: PDGFRL
• Synonyms (NCBI Gene): PDGRL, PRLTS
• Chromosome: 8
• Chromosome location: 8p22
• Summary: 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 ID	Visualize variation	Clinical significance	Consequence
rs137853148	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

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
MIRT1221278	hsa-miR-3182	CLIP-seq
MIRT1221279	hsa-miR-3668	CLIP-seq
MIRT1221280	hsa-miR-3914	CLIP-seq
MIRT1221281	hsa-miR-4677-3p	CLIP-seq
MIRT1221282	hsa-miR-4679	CLIP-seq
MIRT1221283	hsa-miR-4698	CLIP-seq
MIRT2063865	hsa-miR-1231	CLIP-seq
MIRT2063866	hsa-miR-1243	CLIP-seq
MIRT2063867	hsa-miR-1255a	CLIP-seq
MIRT2063868	hsa-miR-1255b	CLIP-seq
MIRT2063869	hsa-miR-1273e	CLIP-seq
MIRT2063870	hsa-miR-139-3p	CLIP-seq
MIRT2063871	hsa-miR-151-3p	CLIP-seq
MIRT2063872	hsa-miR-3170	CLIP-seq
MIRT2063873	hsa-miR-342-5p	CLIP-seq
MIRT2063874	hsa-miR-3907	CLIP-seq
MIRT2063875	hsa-miR-3913-3p	CLIP-seq
MIRT2063876	hsa-miR-4455	CLIP-seq
MIRT2063877	hsa-miR-4463	CLIP-seq
MIRT2063878	hsa-miR-4499	CLIP-seq
MIRT2063879	hsa-miR-4651	CLIP-seq
MIRT2063880	hsa-miR-4664-5p	CLIP-seq
MIRT2063881	hsa-miR-4731-5p	CLIP-seq
MIRT2063882	hsa-miR-4764-5p	CLIP-seq
MIRT2063883	hsa-miR-4798-3p	CLIP-seq
MIRT2063884	hsa-miR-489	CLIP-seq
MIRT2063885	hsa-miR-608	CLIP-seq
MIRT2063886	hsa-miR-617	CLIP-seq
MIRT2063887	hsa-miR-636	CLIP-seq
MIRT2063888	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004992	Function	Platelet activating factor receptor activity	TAS	7898930
GO:0005017	Function	Platelet-derived growth factor receptor activity	IEA
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	TAS	7898930
GO:0005576	Component	Extracellular region	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0035791	Process	Platelet-derived growth factor receptor-beta signaling pathway	IEA
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA

Other IDs

• MIM: 604584
• HGNC: 8805
• e!Ensembl: 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
  NLQGQTTVATTVEFS

• Sequence length: 375

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Carcinoma of colon	Pathogenic	rs137853148	RCV000005802

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Colon adenocarcinoma	Uncertain significance	rs146955873	RCV005931219
Ovarian serous cystadenocarcinoma	Uncertain significance	rs146955873	RCV005931220
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs146955873	RCV005931221

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