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Csf2ra Gene Detail
Summary
  • Symbol
    Csf2ra
  • Name
    colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
  • Synonyms
    CD116, Csfgmra, GM-CSF-Ra, GM-CSFRalpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1339754
    NCBI Gene: 12982
  • Alliance
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:61212395-61216867 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 56.89 cM, cytoband D2
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    23 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1339754
protein coding gene Chr19:61205629-61221141 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025301
protein coding gene Chr19:61894067-61897501 (-)
A/J MGP_AJ_G0025277
protein coding gene Chr19:58886743-58890818 (-)
AKR/J MGP_AKRJ_G0025246
protein coding gene Chr19:60678569-60682593 (-)
BALB/cJ MGP_BALBcJ_G0025273
protein coding gene Chr19:58954914-58959174 (-)
C3H/HeJ MGP_C3HHeJ_G0025032
protein coding gene Chr19:60946957-60951015 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025716
protein coding gene Chr19:63309633-63314153 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023127
protein coding gene Chr19:57646223-57650253 (-)
CAST/EiJ MGP_CASTEiJ_G0024497
protein coding gene Chr19:61081266-61086834 (-)
CBA/J MGP_CBAJ_G0025013
protein coding gene Chr19:66440439-66446407 (-)
DBA/2J MGP_DBA2J_G0025144
protein coding gene Chr19:58622918-58626942 (-)
FVB/NJ MGP_FVBNJ_G0025106
protein coding gene Chr19:58324318-58328339 (-)
LP/J MGP_LPJ_G0025231
protein coding gene Chr19:61728179-61732200 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025138
protein coding gene Chr19:65625881-65629315 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025774
protein coding gene Chr19:60953900-60958708 (-)
PWK/PhJ MGP_PWKPhJ_G0024246
protein coding gene Chr19:58593083-58597380 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024048
protein coding gene Chr19:59573070-59577358 (-)
WSB/EiJ MGP_WSBEiJ_G0024567
protein coding gene Chr19:61052992-61059633 (-)



Homology
more
  • Human Ortholog
    CSF2RA, colony stimulating factor 2 receptor subunit alpha
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CSF2RA, colony stimulating factor 2 receptor subunit alpha
  • Synonyms
    alphaGMR, CD116, CDw116, CSF2R, CSF2RAX, CSF2RAY, CSF2RX, CSF2RY, GMCSFR, GM-CSF-R-alpha, GMCSFR-alpha, GMR, GMR-alpha, SMDP4
  • Links
    NCBI Gene ID: 1438
    neXtProt AC: NX_P15509
    UniProt: P15509

  • Chr Location
    XY;Y

Human Diseases
more
  • Diseases
    1 with Csf2ra mouse models; 1 with human CSF2RA associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    6 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit pulmonary alveolar proteinosis due to defects in macrophage clearance and abnormal bronchoalveolar fluid containing amorphous debris, peribronciolar lymphocytosis, increased fluid turbidity, and increased cholesterol.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
protein-containing complex
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 ENSMUSG00000059326 Ensembl Gene Model | MGI Sequence Detail 4473 C57BL/6J ±  kb
    transcript ENSMUST00000237386 Ensembl | MGI Sequence Detail 1771 Not Applicable  
    polypeptide ENSMUSP00000158457 Ensembl | MGI Sequence Detail 388 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000001354 granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    • InterPro Domains
      IPR003961 Fibronectin type III
      IPR036116 Fibronectin type III superfamily
      IPR040907 IL-3 receptor alpha chain, N-terminal
      IPR013783 Immunoglobulin-like fold
      IPR003532 Short hematopoietin receptor, family 2, conserved site
      IPR015321 Type I cytokine receptor, cytokine-binding domain
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 17
      Primer pair 5
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-2188, MGI:88532
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 5
      Phenotypes 6
    • Earliest
      J:11258 Kitamura T, et al., Reconstitution of functional receptors for human granulocyte/macrophage colony-stimulating factor (GM-CSF): evidence that the protein encoded by the AIC2B cDNA is a subunit of the murine GM-CSF receptor. Proc Natl Acad Sci U S A. 1991 Jun 15;88(12):5082-6
    • Latest
      J:322934 Shima K, et al., A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption. Am J Physiol Lung Cell Mol Physiol. 2022 Mar 1;322(3):L438-L448

    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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    last database update
    11/22/2022
    MGI 6.22
    The Jackson Laboratory