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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:CSF2RA

Protein Summary

check button Gene summary
Gene name: CSF2RA
ASpdb.0 ID: 1438
Gene
Gene symbol

CSF2RA

Gene ID

1438

Gene namecolony stimulating factor 2 receptor subunit alpha
SynonymsCD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMCSFR-alpha|GMR|GMR-alpha|SMDP4|alphaGMR
Cytomap

X;Y

Type of geneprotein-coding
Descriptiongranulocyte-macrophage colony-stimulating factor receptor subunit alphaCD116 antigenGM-CSF receptor alpha subunitalpha-GM-CSF receptorcolony stimulating factor 2 receptor alpha subunitcolony stimulating factor 2 receptor, alpha, low-affinity (granulo
Modification date20240411
UniProtAcc

P15509


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneCSF2RA

GO:0007259

cell surface receptor signaling pathway via JAK-STAT

18692472

GeneCSF2RA

GO:0030526

granulocyte macrophage colony-stimulating factor receptor complex

27396825

GeneCSF2RA

GO:0038157

granulocyte-macrophage colony-stimulating factor signaling pathway

18692472

GeneCSF2RA

GO:0070665

positive regulation of leukocyte proliferation

18692472



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
P15509-1P15509-1_4rs1_B.pdb4RS1X-ray2.68B35315

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
P15509CSF2RAP15509-1P15509-2400410376400SubstitutionIIWEEFTPEEGKGYREEVLTVKEITMGPQRHHRCGWNLYPTPGPSPGSGSSPRLGSESSL376410
P15509CSF2RAP15509-1P15509-3400333318333SubstitutionDDGNLGSVYIYVLLIVLGYSGCSRQFHRSKTN318333
P15509CSF2RAP15509-1P15509-3400333334400Deletionnonenone333333
P15509CSF2RAP15509-1P15509-4400286271286SubstitutionINVSGDLENRYNFPSSVVLTTGTSALCTFMCS271286
P15509CSF2RAP15509-1P15509-4400286287400Deletionnonenone286286
P15509CSF2RAP15509-1P15509-5400377316400SubstitutionGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEITDHLGGIHPRGRERLPRRGLDREGNYLRPRGCRNGMDISASATRGNCFLDDAVNLYIIFYVFI316377
P15509CSF2RAP15509-1P15509-6400233216233SubstitutionERFNPPSNVTVRCNTTHCGSLGYSGCSRQFHRSKTN216233
P15509CSF2RAP15509-1P15509-6400233234400Deletionnonenone233233
P15509CSF2RAP15509-1P15509-7400434315315SubstitutionFFGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLP315349
P15509CSF2RAP15509-1P15509-84002671133Deletionnonenone00

check buttonMultiple sequence alignment of our canonical and alternatively spliced CSF2RA

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of CSF2RA
UniProt-idENSGENSTENSP
P15509-1ENSG00000198223.18ENST00000381524.8ENSP00000370935.3
P15509-1ENSG00000198223.18ENST00000381529.9ENSP00000370940.3
P15509-1ENSG00000198223.18ENST00000432318.8ENSP00000416437.2
P15509-1ENSG00000292357.1ENST00000711129.1ENSP00000518635.1
P15509-1ENSG00000292357.1ENST00000711131.1ENSP00000518633.1
P15509-1ENSG00000292357.1ENST00000711137.1ENSP00000518637.1
P15509-2ENSG00000198223.18ENST00000381509.8ENSP00000370920.3
P15509-2ENSG00000292357.1ENST00000711220.1ENSP00000518632.1
P15509-3ENSG00000198223.18ENST00000381500.6ENSP00000370911.1
P15509-3ENSG00000292357.1ENST00000711226.1ENSP00000518627.1
P15509-5ENSG00000198223.18ENST00000355432.8ENSP00000347606.3
P15509-5ENSG00000292357.1ENST00000711223.1ENSP00000518630.1
P15509-6ENSG00000198223.18ENST00000355805.7ENSP00000348058.2
P15509-6ENSG00000292357.1ENST00000711224.1ENSP00000518629.1
P15509-7ENSG00000198223.18ENST00000498153.7ENSP00000512483.1
P15509-7ENSG00000292357.1ENST00000711138.1ENSP00000518638.1

UniProt-idNM IDNP ID
P15509-1NM_001161529.1NP_001155001.1
P15509-1NM_006140.4NP_006131.2
P15509-1NM_172245.2NP_758448.1
P15509-2NM_001161531.1NP_001155003.1
P15509-3NM_172247.2NP_758450.1
P15509-3XM_011545627.2XP_011543929.1
P15509-3XM_011545628.2XP_011543930.1
P15509-3XM_011546174.2XP_011544476.1
P15509-3XM_011546175.2XP_011544477.1
P15509-5NM_172246.2NP_758449.1
P15509-6NM_172249.2NP_758452.1
P15509-7NM_001161530.1NP_001155002.1
P15509-8NM_001161532.1NP_001155004.1

check buttonAmino acid sequences of our canonical and alternatively spliced CSF2RA
accession_idProtein sequence
P15509-1MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLL
INVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVP
P15509-2MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLL
INVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVP
P15509-3MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLL
P15509-4MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLL
P15509-5MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLL
INVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFDHLGGIHPRGRERLPRRGLDREGNYLRPRGCRNGMDISASATRGN
P15509-6MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
P15509-7MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHE
GVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLL
INVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLPGSDDGNLGSVY
P15509-8MNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSN
VTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAI

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
CSF2RA (go to UniProt):P15509

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=318;End=333
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=271;End=286
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=287;End=400
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=316;End=400
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=216;End=233
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=234;End=400
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=315;End=315
P15509Topological domain23320Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=1;End=133
P15509Transmembrane321346Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=318;End=333
P15509Transmembrane321346Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=334;End=400
P15509Transmembrane321346Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=287;End=400
P15509Transmembrane321346Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=316;End=400
P15509Transmembrane321346Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=234;End=400
P15509Topological domain347400Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=376;End=400
P15509Topological domain347400Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=334;End=400
P15509Topological domain347400Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=287;End=400
P15509Topological domain347400Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=316;End=400
P15509Topological domain347400Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=234;End=400
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Substitution;Start=318;End=333
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Substitution;Start=271;End=286
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Deletion;Start=287;End=400
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Substitution;Start=316;End=400
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Substitution;Start=216;End=233
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Deletion;Start=234;End=400
P15509Domain220320Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316Type=Substitution;Start=315;End=315
P15509Motif306310Note=WSXWS motifType=Deletion;Start=287;End=400
P15509Motif306310Note=WSXWS motifType=Deletion;Start=234;End=400
P15509Motif355363Note=Box 1 motifType=Deletion;Start=334;End=400
P15509Motif355363Note=Box 1 motifType=Deletion;Start=287;End=400
P15509Motif355363Note=Box 1 motifType=Substitution;Start=316;End=400
P15509Motif355363Note=Box 1 motifType=Deletion;Start=234;End=400


Gene Isoform Structures and Expression Levels for CSF2RA

check buttonGene structures of our canonical and alternative spliced genes of CSF2RA
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of CSF2RA

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of P15509-1
3D view using mol* of P15509-2
3D view using mol* of P15509-3
3D view using mol* of P15509-4
3D view using mol* of P15509-5
3D view using mol* of P15509-6
3D view using mol* of P15509-7
3D view using mol* of P15509-8


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of P15509-1
all structure
pLDDT distribution across the protein length of P15509-2
all structure
pLDDT distribution across the protein length of P15509-3
all structure
pLDDT distribution across the protein length of P15509-4
all structure
pLDDT distribution across the protein length of P15509-5
all structure
pLDDT distribution across the protein length of P15509-6
all structure
pLDDT distribution across the protein length of P15509-7
all structure
pLDDT distribution across the protein length of P15509-8
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of P15509-1
all structure
Ramachandran plot of P15509-6
all structure
Ramachandran plot of P15509-7
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
P15509-11.0731091.004188.9930.3310.8081.1570.881.2890.6830.68342,43,44,45,82,83,84,85,86,155,156,157,159,160,162
,189,190,191,193,209
P15509-21.065981.028179.3890.3470.8071.1741.0011.1860.8440.6142,43,44,45,82,83,84,85,86,155,156,157,158,159,160
,189,190,191,209
P15509-31.0661031.012172.5290.3680.7971.1050.7571.2470.6070.67844,45,46,82,83,84,85,86,155,156,157,158,159,160,18
9,190,191,209
P15509-41.066981.03163.2680.3910.8081.0730.7571.1820.6410.53644,45,82,83,84,85,86,155,156,157,159,160,162,189,1
90,191,209
P15509-51.0781071.016184.1910.340.8151.1321.1321.2660.8940.51242,43,44,45,46,82,83,84,85,86,155,156,157,159,160,
189,190,191,209
P15509-61.0721151.086257.9360.3980.8021.0581.0041.030.9751.11643,44,45,46,82,83,84,85,86,155,156,157,159,160,162
,189,190,191,209
P15509-71.0881001.04181.1040.3460.8291.1421.1491.2180.9430.47544,45,46,82,83,84,85,86,155,156,157,159,160,189,19
0,191,209
P15509-81.0091371.082382.4450.7170.610.7891.0760.6881.5630.6311,2,3,4,5,6,7,8,9,10,11,12,17,19,50,53,57,59,61,68
,69,70,71,73,74,75,77,79,82,83,84,85,86,87,88,89,1
05,106,107,108,109,110,174,175

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of P15509-1_P15509-1_4rs1_B.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P15509-1_4rs1_B_P15509-2.pdb
3D view using mol* of P15509-1_4rs1_B_P15509-3.pdb
3D view using mol* of P15509-1_4rs1_B_P15509-4.pdb
3D view using mol* of P15509-1_4rs1_B_P15509-5.pdb
3D view using mol* of P15509-1_4rs1_B_P15509-6.pdb
3D view using mol* of P15509-1_4rs1_B_P15509-7.pdb
3D view using mol* of P15509-1_4rs1_B_P15509-8.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P15509-1_P15509-2.pdb
3D view using mol* of P15509-1_P15509-3.pdb
3D view using mol* of P15509-1_P15509-4.pdb
3D view using mol* of P15509-1_P15509-5.pdb
3D view using mol* of P15509-1_P15509-6.pdb
3D view using mol* of P15509-1_P15509-7.pdb
3D view using mol* of P15509-1_P15509-8.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/P15509-1_vs_P15509-2.png
all structure<
./stats/secondary_structure/figure/P15509-1_vs_P15509-3.png
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./stats/secondary_structure/figure/P15509-1_vs_P15509-4.png
all structure<
./stats/secondary_structure/figure/P15509-1_vs_P15509-5.png
all structure<
./stats/secondary_structure/figure/P15509-1_vs_P15509-6.png
all structure<
./stats/secondary_structure/figure/P15509-1_vs_P15509-7.png
all structure<
./stats/secondary_structure/figure/P15509-1_vs_P15509-8.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/P15509-1_vs_P15509-2.png
all structure<
./stats/relative_asa/P15509-1_vs_P15509-3.png
all structure<
./stats/relative_asa/P15509-1_vs_P15509-4.png
all structure<
./stats/relative_asa/P15509-1_vs_P15509-5.png
all structure<
./stats/relative_asa/P15509-1_vs_P15509-6.png
all structure<
./stats/relative_asa/P15509-1_vs_P15509-7.png
all structure<
./stats/relative_asa/P15509-1_vs_P15509-8.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to CSF2RA


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions
P15509CSF2RADB05194KB002investigational
P15509CSF2RADB05386Regramostiminvestigational
P15509CSF2RADB10770Foreskin fibroblast (neonatal)approvedagonist
P15509CSF2RADB11338Clove oilapproved, nutraceutical
P15509CSF2RADB00020Sargramostimapproved, investigationalagonist
P15509CSF2RADB10772Foreskin keratinocyte (neonatal)approvedagonist

Related Diseases to CSF2RA


check button Previous studies relating to the alternative splicing of CSF2RA and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term
CSF2RA9625584Cloning and sequencing of an alternative splicing-derived cDNA variant of the GM-CSF receptor alpha subunit, which encodes a truncated protein.GM-CSF interacts with the low affinity GM-CSF receptor alpha-subunit, which leads to high affinity association with the alpha-subunit/common beta-subunit complex and transduction of intracellular signals leading to proliferation, differentiation, and/or activation of hemopoietic cells, predominantly in the neutrophil and monocyte/macrophage lineages. Several alternative splicing-derived variants of the GM-CSF receptor alpha-subunit have been described previously by this and other laboratories. A newly discovered alternative-splicing derived variant was isolated from the peripheral blood mononuclear cells of a patient with juvenile myelomonocytic leukemia. This variant lacks 397 base pairs corresponding to exons 8-11 of the wild type GM-CSF receptor alpha-subunit cDNA and potentially encodes a 233 amino acid protein lacking a membrane-anchoring domain and creating the fourth known potential soluble isoform of the alpha-subunit of the GM-CSF receptor.D015477Leukemia, Myelomonocytic, Chronic


Clinically important variants in CSF2RA


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance
P15509P15509-1CSF2RAsingle nucleotide variantp.Arg164GlnBenign/Likely benign
P15509P15509-1CSF2RAsingle nucleotide variantp.Arg164GlnBenign/Likely benign
P15509P15509-1CSF2RAsingle nucleotide variantp.Arg164GlnBenign/Likely benign
P15509P15509-1CSF2RAsingle nucleotide variantp.Arg164GlnBenign/Likely benign