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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:61178222-61218133 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 34.41 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1176 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97531
 protein coding gene Chr18:61178194-61218139 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024474
 protein coding gene Chr18:60901396-60942325 (+)
A/J MGP_AJ_G0024441
 protein coding gene Chr18:58291466-58331834 (+)
AKR/J MGP_AKRJ_G0024411
 protein coding gene Chr18:59897305-59939647 (+)
BALB/cJ MGP_BALBcJ_G0024440
 protein coding gene Chr18:58417568-58463381 (+)
C3H/HeJ MGP_C3HHeJ_G0024208
 protein coding gene Chr18:60123258-60165081 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024887
 protein coding gene Chr18:62553967-62595042 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022318
 protein coding gene Chr18:57833926-57873993 (+)
CAST/EiJ MGP_CASTEiJ_G0023681
 protein coding gene Chr18:59995675-60037215 (+)
CBA/J MGP_CBAJ_G0024178
 protein coding gene Chr18:64562842-64602915 (+)
DBA/2J MGP_DBA2J_G0024308
 protein coding gene Chr18:57960626-58001177 (+)
FVB/NJ MGP_FVBNJ_G0024274
 protein coding gene Chr18:57369540-57410548 (+)
LP/J MGP_LPJ_G0024391
 protein coding gene Chr18:60748013-60793374 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024303
 protein coding gene Chr18:66191294-66234096 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024934
 protein coding gene Chr18:60092007-60131779 (+)
PWK/PhJ MGP_PWKPhJ_G0023424
 protein coding gene Chr18:58188461-58229522 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023230
 protein coding gene Chr18:60319188-60361767 (+)
WSB/EiJ MGP_WSBEiJ_G0023745
 protein coding gene Chr18:59945369-59986558 (+)



Homology
more
  • Human Ortholog
    PDGFRB, platelet derived growth factor receptor beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDGFRB, platelet derived growth factor receptor beta
  • Synonyms
    CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT
  • Links
    NCBI Gene ID: 5159
    neXtProt AC: NX_P09619
    UniProt: P09619

  • Chr Location
    5q32; chr5:150113839-150155872 (-)  GRCh38
Human Diseases
more
  • Diseases
    6 with Pdgfrb mouse models; 6 with human PDGFRB associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    92 phenotypes from 16 alleles in 16 genetic backgrounds
    80 phenotypes from multigenic genotypes
    29 images
    138 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.
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
less
  • All GO Annotations
    161
  • GO References
    33
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1246
  • Tissues
    318
  • cDNA Data
    118
  • Literature Summary
    272
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024620 Ensembl Gene Model | MGI Sequence Detail 39912 C57BL/6J ±  kb
    transcript ENSMUST00000115274 Ensembl | MGI Sequence Detail 5423 Not Applicable  
    polypeptide ENSMUSP00000110929 Ensembl | MGI Sequence Detail 1103 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 130
      Genomic 1
      cDNA 119
      Primer pair 6
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13214, MGD-MRK-13217, MGI:2147240
    References
    more
    • Summaries
      All 529
      Developmental Gene Expression 272
      Diseases 3
      Gene Ontology 33
      Phenotypes 138
    • 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:358638 Amoedo-Leite C, et al., Macrophages upregulate mural cell-like markers and support healing of ischemic injury by adopting functions important for vascular support. Nat Cardiovasc Res. 2024 Jun;3(6):685-700
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory