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Pdgfra Gene Detail
Summary
  • Symbol
    Pdgfra
  • Name
    platelet derived growth factor receptor, alpha polypeptide
  • Synonyms
    CD140a, Pdgfr-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97530
    NCBI Gene: 18595
  • Gene Overview
    MyGene.info: PDGFRA
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:75152292-75198215 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45924 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 39.55 cM
  • Mapping Data
    35 experiments
Homology
more
  • Human Ortholog
    PDGFRA, platelet derived growth factor receptor alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDGFRA, platelet derived growth factor receptor alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CD140A, PDGFR2, PDGFR-2
  • Links
    NCBI Gene ID: 5156
    neXtProt AC: NX_P16234
    UniProt: P16234

  • Chr Location
    4q12; chr4:54229097-54298245 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pdgfra mouse models; 1 with human PDGFRA associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    147 phenotypes from 16 alleles in 15 genetic backgrounds
    67 phenotypes from multigenic genotypes
    409 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit incomplete cephalic closure, increased apoptosis of neural crest cells, impaired myotome and testis formation, abnormal mucosal linings, thoracic skeletal defects, and midgestational lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000056081 VEGA Gene Model | MGI Sequence Detail 45924 C57BL/6J ±  kb
    transcript OTTMUST00000138650 VEGA | MGI Sequence Detail 6549 Not Applicable  
    polypeptide OTTMUSP00000072850 VEGA | MGI Sequence Detail 1089 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      243 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 101
      Genomic 9
      cDNA 62
      Primer pair 10
      Other 20

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-13215, MGD-MRK-13216, MGI:2140805
    References
    more
    • Summaries
      All 810
      Developmental Gene Expression 350
      Diseases 2
      Gene Ontology 27
      Phenotypes 409
    • Earliest
      J:99 Gruneberg H, et al., Two closely linked genes in the mouse. Genet Res. 1960;1:69-90
    • Latest
      J:261813 Vanlandewijck M, et al., A molecular atlas of cell types and zonation in the brain vasculature. Nature. 2018 Feb 22;554(7693):475-480

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory