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

Gene ID: 5157, updated on 1-Jun-2020

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

Genomic context

See PDGFRL in Genome Data Viewer
Location:
8p22
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17576433..17643144)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17433942..17500642)

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
Hepatocellular carcinoma
MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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
  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.

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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