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

    Gene ID: 5157, updated on 11-Jun-2021

    Summary

    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
    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

    See PDGFRL in Genome Data Viewer
    Location:
    8p22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17576433..17643144)
    105.20201022 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 uncharacterized LOC107986919 Neighboring gene Sharpr-MPRA regulatory region 10631 Neighboring gene microtubule associated scaffold protein 1 Neighboring gene microRNA 548v

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0009402 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    GeneReviews: Not available
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available
    Hepatocellular carcinoma
    MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_023332.1 RefSeqGene

      Range
      5001..71701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC124069, AP006248
      Related
      ENSP00000251630.4, ENST00000251630.11
      Conserved Domains (2) summary
      smart00410
      Location:83145
      IG_like; Immunoglobulin like
      cl11960
      Location:293372
      Ig; Immunoglobulin domain
    2. NM_006207.2NP_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
      Q15198
      Related
      ENSP00000444211.1, ENST00000541323.1
      Conserved Domains (2) summary
      smart00410
      Location:83145
      IG_like; Immunoglobulin like
      cl11960
      Location:293372
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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