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Pdgfrb Gene Detail
Summary
  • Symbol
    Pdgfrb
  • Name
    platelet derived growth factor receptor, beta polypeptide
  • Synonyms
    CD140b, Pdgfr
  • Feature Type
    protein coding gene
  • IDs
    MGI:97531
    NCBI Gene: 18596
  • Gene Overview
    MyGene.info: PDGFRB
Location & Maps
more
  • Sequence Map
    Chr18:61045150-61085061 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39912 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.41 cM
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    PDGFRB, platelet derived growth factor receptor beta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDGFRB, platelet derived growth factor receptor beta
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR1, PDGFR-1, PENTT
  • Links
    NCBI Gene ID: 5159
    neXtProt AC: NX_P09619

  • Chr Location
    5q33.1; chr5:150113839-150155884 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    6 with human PDGFRB associations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    125 phenotypes from 21 alleles in 21 genetic backgrounds
    33 phenotypes from multigenic genotypes
    29 images
    56 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.
  • All Mutations and Alleles
    29
  • Chemically induced (ENU)
    2
  • Gene trapped
    2
  • Targeted
    24
  • Transgenic
    1
  • Incidental Mutations
Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities.
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014920 VEGA Gene Model | MGI Sequence Detail 39912 C57BL/6J ±  kb
transcript OTTMUST00000035439 VEGA | MGI Sequence Detail 5423 Not Applicable  
polypeptide OTTMUSP00000015855 VEGA | MGI Sequence Detail 1103 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    240 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000002035 beta-type platelet-derived growth factor receptor
  • PDB
  • EC
  • InterPro Domains
    IPR013151 Immunoglobulin
    IPR007110 Immunoglobulin-like domain
    IPR013783 Immunoglobulin-like fold
    IPR003599 Immunoglobulin subtype
    IPR003598 Immunoglobulin subtype 2
    IPR027288 Platelet-derived growth factor receptor beta
    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 121
    Genomic 1
    cDNA 116
    Other 4

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-13214, MGD-MRK-13217, MGI:2147240
References
more
  • Summaries
    All 263
    Developmental Gene Expression 134
    Gene Ontology 26
    Phenotypes 56
  • Earliest
    J:8434 Yarden Y, et al., Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature. 1986 Sep 18-24;323(6085):226-32
  • Latest
    J:230440 Cortez E, et al., Functional malignant cell heterogeneity in pancreatic neuroendocrine tumors revealed by targeting of PDGF-DD. Proc Natl Acad Sci U S A. 2016 Feb 16;113(7):E864-73

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory