Details for: CSF2RA

Gene ID: 1438

Symbol: CSF2RA

Ensembl ID: ENSG00000198223

Description: colony stimulating factor 2 receptor subunit alpha

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 27.3239
    Cell Significance Index: -14.0600
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 5.0873
    Cell Significance Index: 13.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.2268
    Cell Significance Index: 86.1600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 2.9060
    Cell Significance Index: 44.9600
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: 2.3219
    Cell Significance Index: 39.8900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.6859
    Cell Significance Index: 31.1600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.5047
    Cell Significance Index: 40.2500
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.2151
    Cell Significance Index: 7.5500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.9367
    Cell Significance Index: -2.0500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4801
    Cell Significance Index: 12.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4369
    Cell Significance Index: 26.7900
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.2765
    Cell Significance Index: 3.0200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1707
    Cell Significance Index: 32.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1668
    Cell Significance Index: 7.5600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.1524
    Cell Significance Index: 43.8600
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.0985
    Cell Significance Index: 1.2400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0922
    Cell Significance Index: 16.6100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0699
    Cell Significance Index: 63.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0634
    Cell Significance Index: 2.9800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0597
    Cell Significance Index: 32.6300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0570
    Cell Significance Index: 1.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0441
    Cell Significance Index: 15.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0328
    Cell Significance Index: 6.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0115
    Cell Significance Index: 1.1400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0045
    Cell Significance Index: 8.5500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0013
    Cell Significance Index: 2.0300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0031
    Cell Significance Index: -0.5000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0062
    Cell Significance Index: -11.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0115
    Cell Significance Index: -15.6700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0130
    Cell Significance Index: -2.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0144
    Cell Significance Index: -9.1300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0156
    Cell Significance Index: -11.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0168
    Cell Significance Index: -0.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0181
    Cell Significance Index: -13.2600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0195
    Cell Significance Index: -14.4200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0240
    Cell Significance Index: -10.8900
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.0247
    Cell Significance Index: -0.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0252
    Cell Significance Index: -14.2300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0275
    Cell Significance Index: -2.8100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0294
    Cell Significance Index: -13.0200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0309
    Cell Significance Index: -0.8900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0326
    Cell Significance Index: -0.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0368
    Cell Significance Index: -5.3500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0467
    Cell Significance Index: -5.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0520
    Cell Significance Index: -6.4000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0545
    Cell Significance Index: -7.0500
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0615
    Cell Significance Index: -0.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0684
    Cell Significance Index: -14.4100
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.0722
    Cell Significance Index: -0.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0790
    Cell Significance Index: -10.8500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0836
    Cell Significance Index: -14.2700
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: -0.0911
    Cell Significance Index: -0.7700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0948
    Cell Significance Index: -3.3200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1095
    Cell Significance Index: -7.5700
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1103
    Cell Significance Index: -0.4800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1104
    Cell Significance Index: -6.6300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1145
    Cell Significance Index: -11.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1184
    Cell Significance Index: -13.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1195
    Cell Significance Index: -13.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1237
    Cell Significance Index: -3.1800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1275
    Cell Significance Index: -1.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1282
    Cell Significance Index: -16.4300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1396
    Cell Significance Index: -10.7100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1398
    Cell Significance Index: -6.0800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1450
    Cell Significance Index: -2.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1506
    Cell Significance Index: -4.2100
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.1693
    Cell Significance Index: -1.9900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1721
    Cell Significance Index: -12.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1862
    Cell Significance Index: -10.4500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1876
    Cell Significance Index: -2.5600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1886
    Cell Significance Index: -12.1700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1899
    Cell Significance Index: -6.2200
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1955
    Cell Significance Index: -3.3200
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.2005
    Cell Significance Index: -2.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2028
    Cell Significance Index: -14.3400
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.2031
    Cell Significance Index: -2.9600
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.2095
    Cell Significance Index: -2.9400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2188
    Cell Significance Index: -6.9700
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: -0.2235
    Cell Significance Index: -0.9300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2366
    Cell Significance Index: -10.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2368
    Cell Significance Index: -11.0400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2407
    Cell Significance Index: -6.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2446
    Cell Significance Index: -12.8500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2561
    Cell Significance Index: -3.8600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2762
    Cell Significance Index: -5.4000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2789
    Cell Significance Index: -10.5600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2899
    Cell Significance Index: -2.6700
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.2974
    Cell Significance Index: -3.0800
  • Cell Name: macrophage (CL0000235)
    Fold Change: -0.3115
    Cell Significance Index: -3.1800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3343
    Cell Significance Index: -8.3400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3454
    Cell Significance Index: -7.3300
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: -0.3666
    Cell Significance Index: -3.2300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3686
    Cell Significance Index: -13.5300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3828
    Cell Significance Index: -7.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3832
    Cell Significance Index: -13.3200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3980
    Cell Significance Index: -9.6400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.4121
    Cell Significance Index: -8.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4131
    Cell Significance Index: -12.1700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4134
    Cell Significance Index: -8.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4353
    Cell Significance Index: -9.2700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Receptor structure**: The CSF2RA gene encodes for the alpha subunit of the CSF2R, which forms a heterodimeric receptor complex with the beta subunit (CSF2RB) upon binding to its ligand, GM-CSF. 2. **Immune cell regulation**: CSF2R is expressed on various immune cells, including myeloid dendritic cells, classical monocytes, and microglial cells, and plays a crucial role in regulating their proliferation, differentiation, and survival. 3. **Surfactant metabolism**: Mutations in the CSF2RA gene have been associated with surfactant metabolism disorders, such as SMDP4, which highlights the importance of CSF2R in regulating surfactant production and function. 4. **Disease association**: CSF2RA mutations have also been linked to immune system dysregulation and disease, including inflammatory conditions and autoimmune disorders. **Pathways and Functions** 1. **Cytokine-mediated signaling pathway**: CSF2R is a key component of the GM-CSF signaling pathway, which regulates the proliferation, differentiation, and survival of immune cells. 2. **Cytokine binding**: CSF2R binds to its ligand, GM-CSF, triggering a signaling cascade that regulates immune cell function. 3. **Cytokine receptor activity**: CSF2R exhibits receptor activity, allowing it to regulate the activity of downstream signaling molecules. 4. **Cytokine signaling in immune system**: CSF2R plays a crucial role in regulating immune cell function, including proliferation, differentiation, and survival, in response to GM-CSF stimulation. 5. **Granulocyte-macrophage colony-stimulating factor signaling pathway**: CSF2R is essential for regulating the GM-CSF signaling pathway, which is critical for the development and function of myeloid cells. **Clinical Significance** 1. **Surfactant metabolism disorders**: Mutations in the CSF2RA gene have been associated with surfactant metabolism disorders, such as SMDP4, highlighting the importance of CSF2R in regulating surfactant production and function. 2. **Immune system dysregulation**: CSF2RA mutations have been linked to immune system dysregulation and disease, including inflammatory conditions and autoimmune disorders. 3. **Cancer therapy**: CSF2R may serve as a therapeutic target for cancer treatment, as it is overexpressed on the surface of certain cancer cells, including myeloid cells. 4. **Vaccine development**: CSF2R may also play a role in vaccine development, as it is involved in the regulation of immune cell function and response to vaccine antigens. In conclusion, the CSF2RA gene encodes for a critical component of the GM-CSF receptor complex, which plays a pivotal role in regulating immune cell function and regulating surfactant metabolism. Mutations in the CSF2RA gene have been associated with surfactant metabolism disorders and immune system dysregulation, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 171822143

Symbol: CSF2R_HUMAN

Name: Granulocyte-macrophage colony-stimulating factor receptor subunit alpha

UniProtKB Accession Codes:

P15509 A7J003 A8KAM1 B4DW68 J3JS76 J3JS77 O00207 Q14429 Q14430 Q14431 Q16564

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 6 CORUM 1 CPTC 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EMBL 14 EMDB 1 Ensembl 16 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 4 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 2 ProteomicsDB 8 RNAct 1 Reactome 6 RefSeq 21 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2555171

Title: Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor.

PubMed ID: 2555171

DOI: 10.1002/j.1460-2075.1989.tb08541.x

PubMed ID: 8144676

Title: Structure of the gene encoding the alpha subunit of the human granulocyte-macrophage colony stimulating factor receptor. Implications for the evolution of the cytokine receptor superfamily.

PubMed ID: 8144676

DOI: 10.1016/s0021-9258(17)34144-3

PubMed ID: 1715577

Title: A functional isoform of the human granulocyte/macrophage colony-stimulating factor receptor has an unusual cytoplasmic domain.

PubMed ID: 1715577

DOI: 10.1073/pnas.88.17.7744

PubMed ID: 2148207

Title: Cloning of a potentially soluble receptor for human GM-CSF.

PubMed ID: 2148207

DOI: 10.1093/nar/18.23.7178

PubMed ID: 1832774

Title: Identification and molecular cloning of a soluble human granulocyte-macrophage colony-stimulating factor receptor.

PubMed ID: 1832774

DOI: 10.1073/pnas.88.18.8203

PubMed ID: 8086503

Title: Cloning and sequencing of the cDNAs encoding two alternative splicing-derived variants of the alpha subunit of the granulocyte-macrophage colony-stimulating factor receptor.

PubMed ID: 8086503

DOI: 10.1016/0167-4889(94)90241-0

PubMed ID: 17681666

Title: Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit.

PubMed ID: 17681666

DOI: 10.1016/j.exphem.2007.06.008

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1358805

Title: Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region.

PubMed ID: 1358805

DOI: 10.1016/s0888-7543(05)80241-1

PubMed ID: 18955567

Title: Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

PubMed ID: 18955567

DOI: 10.1084/jem.20080759

PubMed ID: 18692472

Title: The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation.

PubMed ID: 18692472

DOI: 10.1016/j.cell.2008.05.053

PubMed ID: 18955570

Title: Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

PubMed ID: 18955570

DOI: 10.1084/jem.20080990

Sequence Information:

  • Length: 400
  • Mass: 46207
  • Checksum: D9025B981E41311D
  • Sequence:
    • MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC 
FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA 
AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL 
DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP 
RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 
VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL RIQRLFPPVP 
QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.