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PDGFRL platelet derived growth factor receptor like [ Homo sapiens (human) ]

Gene ID: 5157, updated on 5-Mar-2024

Summary

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Official Symbol
PDGFRLprovided by HGNC
Official Full Name
platelet derived growth factor receptor likeprovided by HGNC
Primary source
HGNC:HGNC:8805
See related
Ensembl:ENSG00000104213 MIM:604584; AllianceGenome:HGNC:8805
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDGRL; PRLTS
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 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]
Expression
Broad expression in fat (RPKM 15.7), ovary (RPKM 15.2) and 16 other tissues See more
Orthologs
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Genomic context

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See PDGFRL in Genome Data Viewer
Location:
8p22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17576433..17643144)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17843562..17910296)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17433942..17500653)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene solute carrier family 7 member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17394687-17395188 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17395189-17395688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18962 Neighboring gene Sharpr-MPRA regulatory region 10035 Neighboring gene uncharacterized LOC107986919 Neighboring gene uncharacterized LOC124901891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17516891-17517391 Neighboring gene Sharpr-MPRA regulatory region 10631 Neighboring gene Sharpr-MPRA regulatory region 14364 Neighboring gene microtubule associated scaffold protein 1 Neighboring gene microRNA 548v

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations. Hou S, et al. Hum Mutat, 2013 Jan. PMID 22926996
  2. Expression and functional characterization of platelet-derived growth factor receptor-like gene. Guo FJ, et al. World J Gastroenterol, 2010 Mar 28. PMID 20333786, Free PMC Article
  3. The gene expression profiles of primary and metastatic melanoma yields a transition point of tumor progression and metastasis. Riker AI, et al. BMC Med Genomics, 2008 Apr 28. PMID 18442402, Free PMC Article
  4. An integrative approach to characterize disease-specific pathways and their coordination: a case study in cancer. Xu M, et al. BMC Genomics, 2008. PMID 18366601, Free PMC Article
  5. Genetic background of different cancer cell lines influences the gene set involved in chromosome 8 mediated breast tumor suppression. Seitz S, et al. Genes Chromosomes Cancer, 2006 Jun. PMID 16552773

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. review elucidates the role of tumor stroma interactions, the roles of PDGF receptor signaling in cancer-associated fibroblasts via alteration of stromal matrix composition and the mitogenic effects of cancer-derived PDGFs.
    Title: PDGF/PDGFR signaling and targeting in cancer growth and progression: Focus on tumor microenvironment and cancer-associated fibroblasts.
  2. Data indicate the association between SNP rs17633132:C/T in PDGFRL with Behcet disease and suggest that the PDGFRL gene may be involved in Behcet disease by modulating its transcription.
    Title: Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations.
  3. Results indicate that PDGFRL functions as a tumor suppressor, inhibiting the growth of colorectal cancer cells.
    Title: Expression and functional characterization of platelet-derived growth factor receptor-like gene.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Colorectal cancer
MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Hepatocellular carcinoma
MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables platelet activating factor receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables platelet-derived growth factor beta-receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in platelet-derived growth factor receptor-beta signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
platelet-derived growth factor receptor-like protein
Names
PDGF receptor beta-like tumor suppressor
PDGFR-like protein
platelet-derived growth factor-beta-like tumor suppressor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023332.2 RefSeqGene

    Range
    5785..71713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001372073.1 → NP_001359002.1  platelet-derived growth factor receptor-like protein precursor

    Status: REVIEWED

    Source sequence(s)
    AC124069, AP006248
    Consensus CDS
    CCDS6003.1
    UniProtKB/Swiss-Prot
    A8K085, Q15198, Q6FH04
    Related
    ENSP00000251630.4, ENST00000251630.11
    Conserved Domains (2) summary
    smart00410
    Location:83 → 145
    IG_like; Immunoglobulin like
    cl11960
    Location:293 → 372
    Ig; Immunoglobulin domain

  2. NM_006207.2 → NP_006198.1  platelet-derived growth factor receptor-like protein precursor

    See identical proteins and their annotated locations for NP_006198.1

    Status: REVIEWED

    Source sequence(s)
    AC124069, AK289450, BQ446405
    Consensus CDS
    CCDS6003.1
    UniProtKB/Swiss-Prot
    A8K085, Q15198, Q6FH04
    Related
    ENSP00000444211.1, ENST00000541323.1
    Conserved Domains (2) summary
    smart00410
    Location:83 → 145
    IG_like; Immunoglobulin like
    cl11960
    Location:293 → 372
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    17576433..17643144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    17843562..17910296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15198.1 GenPept UniProtKB/Swiss-Prot:Q15198

Gene LinkOut

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