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 ... See more...

Aliases for PDGFRL Gene

Aliases for PDGFRL Gene

  • Platelet Derived Growth Factor Receptor Like 2 3 5
  • PRLTS 2 3 4
  • Platelet-Derived Growth Factor Receptor-Like Protein 3 4
  • PDGF Receptor Beta-Like Tumor Suppressor 3 4
  • PDGFR-Like Protein 3 4
  • Platelet-Derived Growth Factor-Beta-Like Tumor Suppressor 3
  • Platelet-Derived Growth Factor Receptor-Like 2
  • PDGFRL 5
  • PDGRL 3

External Ids for PDGFRL Gene

Previous GeneCards Identifiers for PDGFRL Gene

  • GC08P017327
  • GC08P017514
  • GC08P017444
  • GC08P017478
  • GC08P017435
  • GC08P017436
  • GC08P015978

Summaries for PDGFRL Gene

Entrez Gene Summary for PDGFRL 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 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]

GeneCards Summary for PDGFRL Gene

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.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDGFRL Gene

Genomics for PDGFRL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDGFRL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J017575 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 612.5 +0.9 853 2.9 HNRNPL CTCF PRDM10 ZNF692 PRDM1 ZIC2 ZSCAN4 RBFOX2 PATZ1 POLR2A PDGFRL ENSG00000277466 MTUS1
GH08J017693 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.7 +119.4 119378 4.8 ZIC2 EED CEBPB RUNX3 MAFK ATF3 JUN MAX POLR2A ATF2 MTUS1 PDGFRL RF00017-6861 MIR548V lnc-FGL1-3 RF00017-6860
GH08J017613 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 17.2 +40.4 40372 7.6 GATAD2A CTCF ZNF629 TFE3 SOX13 NFKBIZ ZNF692 RCOR2 FOXA1 RBFOX2 MICU3 PDGFRL MTUS1 FGF20 LOC107986919 piR-50852-163
GH08J017602 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.7 +26.6 26568 2 GATAD2A CTCF TFE3 ZNF7 FOXA1 RAD21 ZNF600 ZNF341 CEBPA ZNF561 PDGFRL MTUS1 ENSG00000277466 ENSG00000287303
GH08J017538 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.1 -36.5 -36461 3.1 CREB1 PRDM10 ZNF629 ZSCAN4 PATZ1 SP1 ZNF600 ZNF37A ATF7 SCRT2 PDGFRL ENSG00000279932 lnc-PDGFRL-3 SLC7A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDGFRL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDGFRL

Top Transcription factor binding sites by QIAGEN in the PDGFRL gene promoter:
  • CUTL1
  • E47
  • E4BP4
  • FOXD3
  • FOXI1
  • HFH-3
  • Pax-2
  • Pbx1a
  • Tal-1
  • TBP

Genomic Locations for PDGFRL Gene

Genomic Locations for PDGFRL Gene
chr8:17,576,433-17,644,071
(GRCh38/hg38)
Size:
67,639 bases
Orientation:
Plus strand
chr8:17,433,942-17,501,580
(GRCh37/hg19)
Size:
67,639 bases
Orientation:
Plus strand

Genomic View for PDGFRL Gene

Genes around PDGFRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDGFRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDGFRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDGFRL Gene

Proteins for PDGFRL Gene

  • Protein details for PDGFRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15198-PGFRL_HUMAN
    Recommended name:
    Platelet-derived growth factor receptor-like protein
    Protein Accession:
    Q15198
    Secondary Accessions:
    • A8K085
    • Q6FH04

    Protein attributes for PDGFRL Gene

    Size:
    375 amino acids
    Molecular mass:
    41861 Da
    Quaternary structure:
    • Forms a complex composed of PDGFRL, TNK2 and GRB2.

neXtProt entry for PDGFRL Gene

Post-translational modifications for PDGFRL Gene

  • Glycosylation at Asn132 and Asn219
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PGFRL_HUMAN (1609)

Other Protein References for PDGFRL Gene

No data available for DME Specific Peptides for PDGFRL Gene

Domains & Families for PDGFRL Gene

Gene Families for PDGFRL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for PDGFRL Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
ProtoNet:

Suggested Antigen Peptide Sequences for PDGFRL Gene

GenScript: Design optimal peptide antigens:
  • PDGF receptor beta-like tumor suppressor (PGFRL_HUMAN)
genes like me logo Genes that share domains with PDGFRL: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDGFRL Gene

Function for PDGFRL Gene

Molecular function for PDGFRL Gene

GENATLAS Biochemistry:
platelet-derived growth factor receptor-like

Phenotypes From GWAS Catalog for PDGFRL Gene

Gene Ontology (GO) - Molecular Function for PDGFRL Gene

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
genes like me logo Genes that share ontologies with PDGFRL: view
genes like me logo Genes that share phenotypes with PDGFRL: view

Human Phenotype Ontology for PDGFRL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PDGFRL

CRISPR Products

miRNA for PDGFRL Gene

miRTarBase miRNAs that target PDGFRL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDGFRL

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PDGFRL Gene

Localization for PDGFRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDGFRL Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDGFRL gene
Compartment Confidence
extracellular 4
plasma membrane 3
nucleus 3
cytoskeleton 1
mitochondrion 1
peroxisome 1
golgi apparatus 1
endoplasmic reticulum 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDGFRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PDGFRL: view

Pathways & Interactions for PDGFRL Gene

PathCards logo

SuperPathways for PDGFRL Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDGFRL Gene

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 --
genes like me logo Genes that share ontologies with PDGFRL: view

No data available for Pathways by source and SIGNOR curated interactions for PDGFRL Gene

Drugs & Compounds for PDGFRL Gene

(2) Drugs for PDGFRL Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Crenolanib (CP-868596) Pharma PDGFR-β inhibitor,potent and selective 0

(1) ApexBio Compounds for PDGFRL Gene

Compound Action Cas Number
Crenolanib (CP-868596) PDGFR-β inhibitor,potent and selective 670220-88-9
genes like me logo Genes that share compounds with PDGFRL: view

Drug Products

Transcripts for PDGFRL Gene

mRNA/cDNA for PDGFRL Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDGFRL

Alternative Splicing Database (ASD) splice patterns (SP) for PDGFRL Gene

No ASD Table

Relevant External Links for PDGFRL Gene

GeneLoc Exon Structure for
PDGFRL

Expression for PDGFRL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDGFRL Gene

mRNA differential expression in normal tissues according to GTEx for PDGFRL Gene

This gene is overexpressed in Nerve - Tibial (x6.4).

Protein differential expression in normal tissues from HIPED for PDGFRL Gene

This gene is overexpressed in Synovial fluid (47.9) and Placenta (21.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDGFRL Gene



Protein tissue co-expression partners for PDGFRL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDGFRL

SOURCE GeneReport for Unigene cluster for PDGFRL Gene:

Hs.458573

mRNA Expression by UniProt/SwissProt for PDGFRL Gene:

Q15198-PGFRL_HUMAN
Tissue specificity: Expressed in colon, lung and liver.

Evidence on tissue expression from TISSUES for PDGFRL Gene

  • Nervous system(4.3)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDGFRL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with PDGFRL: view

Orthologs for PDGFRL Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDGFRL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PDGFRL 30 31
  • 98.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDGFRL 30 31
  • 87.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDGFRL 30 31
  • 86.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pdgfrl 30 17 31
  • 84.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdgfrl 30
  • 84.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia PDGFRL 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDGFRL 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDGFRL 30 31
  • 69.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDGFRL 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdgfrl 30
  • 70.8 (n)
Str.8504 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23703 30
Zebrafish
(Danio rerio)
Actinopterygii pdgfrl 30 31
  • 61.75 (n)
OneToOne
zgc56104 30
Species where no ortholog for PDGFRL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PDGFRL Gene

ENSEMBL:
Gene Tree for PDGFRL (if available)
TreeFam:
Gene Tree for PDGFRL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDGFRL: view image

Paralogs for PDGFRL Gene

No data available for Paralogs for PDGFRL Gene

Variants for PDGFRL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDGFRL Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
714375 Benign: not provided 17,589,618(+) T/C MISSENSE_VARIANT
714376 Benign: not provided 17,589,661(+) C/A SYNONYMOUS_VARIANT
730123 Likely Benign: not provided 17,577,264(+) G/T MISSENSE_VARIANT
rs137853148 Pathogenic: Carcinoma of colon. Colorectal cancer (CRC) [MIM:114500] 17,589,479(+) C/Tp.His23Tyr MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PDGFRL Gene

Structural Variations from Database of Genomic Variants (DGV) for PDGFRL Gene

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

Variation tolerance for PDGFRL Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.34; 53.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDGFRL Gene

Human Gene Mutation Database (HGMD)
PDGFRL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDGFRL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDGFRL Gene

Disorders for PDGFRL Gene

MalaCards: The human disease database

(7) MalaCards diseases for PDGFRL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PGFRL_HUMAN
  • 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. {ECO:0000269 PubMed:7898930}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Note=A polymorphism in PDGFRL has been reported to be associated with susceptibility to Behcet disease (PubMed:22926996). 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. {ECO:0000269 PubMed:22926996}.

Additional Disease Information for PDGFRL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PDGFRL: view

No data available for Genatlas for PDGFRL Gene

Publications for PDGFRL Gene

  1. Isolation of a candidate tumor suppressor gene on chromosome 8p21.3-p22 that is homologous to an extracellular domain of the PDGF receptor beta gene. (PMID: 7898930) Fujiwara Y … Nakamura Y (Oncogene 1995) 3 4 23
  2. Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations. (PMID: 22926996) Hou S … Yang P (Human mutation 2013) 3 4
  3. Expression and functional characterization of platelet-derived growth factor receptor-like gene. (PMID: 20333786) Guo FJ … Li GC (World journal of gastroenterology 2010) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T … Xu R (Neurobiology of aging 2014) 3

Products for PDGFRL Gene

Sources for PDGFRL Gene