• Gene id: 5157

Gene Summary

• Gene Symbol: PDGFRL   Gene   UCSC   Ensembl
• Aliases: PDGRL, PRLTS
• Gene name: platelet derived growth factor receptor like
• Alternate names: platelet-derived growth factor receptor-like protein, PDGF receptor beta-like tumor suppressor, PDGFR-like protein, platelet-derived growth factor-beta-like tumor suppressor,
• Gene location: 8p22 (17576432: 17643143)     Exons: 7     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 617614

Protein Summary

• Protein general information: Q15198  
  • Name: Platelet derived growth factor receptor like protein (PDGFR like protein) (PDGF receptor beta like tumor suppressor)
  • Length: 375  
  • Mass: 41861
  • Tissue specificity: Expressed in colon, lung and liver. {ECO
• Sequence:

  MKVWLLLGLLLVHEALEDVTGQHLPKNKRPKEPGENRIKPTNKKVKPKIPKMKDRDSANSAPKTQSIMMQVLDKG
  RFQKPAATLSLLAGQTVELRCKGSRIGWSYPAYLDTFKDSRLSVKQNERYGQLTLVNSTSADTGEFSCWVQLCSG
  YICRKDEAKTGSTYIFFTEKGELFVPSPSYFDVVYLNPDRQAVVPCRVTVLSAKVTLHREFPAKEIPANGTDIVY
  DMKRGFVYLQPHSEHQGVVYCRAEAGGRSQISVKYQLLYVAVPSGPPSTTILASSNKVKSGDDISVLCTVLGEPD
  VEVEFTWIFPGQKDERPVTIQDTWRLIHRGLGHTTRISQSVITVEDFETIDAGYYICTAQNLQGQTTVATTVEFS

• Structural information:
  • Protein Domains: (62..15-)
    1 (/note="Ig-like-C2-type)
    (272..37-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR042495  
  • Prosite: PS50835
  • STRING: ENSP00000444211
• Other Databases: GeneCards:  PDGFRL  Malacards:  PDGFRL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0004992	platelet activating factor receptor activity	TAS	molecular function
GO:0005019	platelet-derived growth factor beta-receptor activity	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0035791	platelet-derived growth factor receptor-beta signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq