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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
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
  • Detailed Genetic Map ± 1 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: HGNC, HomoloGene
  • Synonyms
    CD140A, GAS9, PDGFR2, PDGFR-2, RHEPDGFRA
  • Links
    NCBI Gene ID: 5156
    neXtProt AC: NX_P16234

  • Chr Location
    4q12; chr4:54229097-54298245 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pdgfra mouse models; 2 with human PDGFRA associations

Human Disease Mouse Models
       Diaphragmatic Hernia, Congenital   OMIM: 142340 View 1 model
       Gastrointestinal Stromal Tumor; GIST   OMIM: 606764
Hypereosinophilic Syndrome, Idiopathic; HES   OMIM: 607685
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
    146 phenotypes from 16 alleles in 15 genetic backgrounds
    67 phenotypes from multigenic genotypes
    347 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    28
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    5
  • Targeted
    18
  • Genomic Mutations
    9 involving Pdgfra
  • Incidental Mutations
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
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000056081 VEGA Gene Model | MGI Sequence Detail 45924 C57BL/6J ±  kb
transcript OTTMUST00000138655 VEGA | MGI Sequence Detail 6834 Not Applicable  
polypeptide OTTMUSP00000072854 VEGA | MGI Sequence Detail 1089 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    243 from dbSNP Build 142
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000002030 alpha-type platelet-derived growth factor receptor
  • EC
  • InterPro Domains
    IPR013098 Immunoglobulin I-set
    IPR007110 Immunoglobulin-like domain
    IPR013783 Immunoglobulin-like fold
    IPR003599 Immunoglobulin subtype
    IPR003598 Immunoglobulin subtype 2
    IPR027290 Platelet-derived growth factor receptor alpha
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
    IPR008266 Tyrosine-protein kinase, active site
    IPR020635 Tyrosine-protein kinase, catalytic domain
    IPR016243 Tyrosine-protein kinase, CSF-1/PDGF receptor family
    IPR001824 Tyrosine-protein kinase, receptor class III, conserved site
Molecular
Reagents
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  • All nucleic 94
    Genomic 9
    cDNA 60
    Primer pair 6
    Other 19

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-13215, MGD-MRK-13216, MGI:2140805
References
more
  • Summaries
    All 458
    Developmental Gene Expression 302
    Diseases 2
    Gene Ontology 27
    Phenotypes 347
  • Earliest
    J:99 Gruneberg H, et al., Two closely linked genes in the mouse. Genet Res. 1960;1:69-90
  • Latest
    J:229448 Tsai HH, et al., Oligodendrocyte precursors migrate along vasculature in the developing nervous system. Science. 2016 Jan 22;351(6271):379-84

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
05/24/2016
MGI 6.04
The Jackson Laboratory