ENSG00000104213


Homo sapiens

Features
Gene ID: ENSG00000104213
  
Biological name :PDGFRL
  
Synonyms : PDGFRL / platelet derived growth factor receptor like / Q15198
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p22
Gene start: 17576433
Gene end: 17644071
  
Corresponding Affymetrix probe sets: 205226_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000444211
Ensembl peptide - ENSP00000251630
NCBI entrez gene - 5157     See in Manteia.
OMIM - 604584
RefSeq - NM_006207
RefSeq Peptide - NP_006198
swissprot - Q15198
Ensembl - ENSG00000104213
  
Related genetic diseases (OMIM): 114500 - Colorectal cancer, somatic, 114500
  114550 - Hepatocellular cancer, somatic, 114550
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdgfrlENSDARG00000006456Danio rerio
 PDGFRLENSGALG00000013617Gallus gallus
 PdgfrlENSMUSG00000031595Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0035791 platelet-derived growth factor receptor-beta signaling pathway IEA
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005576 extracellular region IEA
 molecular_functionGO:0004992 platelet activating factor receptor activity TAS
 molecular_functionGO:0005019 platelet-derived growth factor beta-receptor activity TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001413 Micronodular cirrhosis 
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 HP:0001425 Heterogeneous 
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 HP:0001428 Somatic mutation 
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 HP:0006572 Subacute progressive viral hepatitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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