Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5157
Gene name	Platelet derived growth factor receptor like
Gene symbol	PDGFRL
Synonyms (NCBI Gene)	PDGRLPRLTS
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137853148	C>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (35)

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

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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

MIM	HGNC	e!Ensembl
604584	8805	ENSG00000104213

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carcinoma of colon	Pathogenic	rs137853148	RCV000005802	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	ClinVar, HPO ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	12127691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	12653892, 7898930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult hepatocellular carcinoma	Liver carcinoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22926996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	7898930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17273163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20333786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	7898930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20333786	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	36524127	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21513506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	9197531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20333786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	22331697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10362129, 18366601, 28407304, 7898930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16270321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	9197531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	9197531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12127691		★★★★★ ★☆☆☆☆ Found in Text Mining only

PDGFRL (platelet derived growth factor receptor like)