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CSF2RA colony stimulating factor 2 receptor subunit alpha [ Homo sapiens (human) ]

Gene ID: 1438, updated on 24-Nov-2020

Summary

Official Symbol
CSF2RAprovided by HGNC
Official Full Name
colony stimulating factor 2 receptor subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:2435
See related
Ensembl:ENSG00000198223 MIM:306250; MIM:425000
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GMR; CD116; CSF2R; SMDP4; CDw116; CSF2RX; CSF2RY; GMCSFR; CSF2RAX; CSF2RAY; alphaGMR; GMR-alpha; GMCSFR-alpha; GM-CSF-R-alpha
Summary
The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 20.8), appendix (RPKM 7.7) and 14 other tissues See more
Orthologs

Genomic context

See CSF2RA in Genome Data Viewer
Location:
X;Y
Exon count:
22
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (1268814..1325218)
109.20201120 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (1268814..1325218)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1387693..1428828)
105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (1337693..1378828)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cytokine receptor like factor 2 Neighboring gene uncharacterized LOC107985697 Neighboring gene uncharacterized LOC112268304 Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene uncharacterized LOC101928055 Neighboring gene interleukin 3 receptor subunit alpha Neighboring gene solute carrier family 25 member 6

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene cytokine receptor like factor 2 Neighboring gene uncharacterized LOC107985697 Neighboring gene uncharacterized LOC112268304 Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene uncharacterized LOC101928055 Neighboring gene interleukin 3 receptor subunit alpha Neighboring gene solute carrier family 25 member 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.
GeneReviews: Not available
Surfactant metabolism dysfunction, pulmonary, 4
MedGen: C2677877 OMIM: 300770 GeneReviews: Not available
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the expression of colony stimulating factor 2 receptor, alpha subunit (CSF2RA) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3848, MGC4838

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Names
CD116 antigen
GM-CSF receptor alpha subunit
alpha-GM-CSF receptor
colony stimulating factor 2 receptor alpha subunit
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
granulocyte-macrophage colony-stimulating factor receptor alpha chain

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012280.1 RefSeqGene

    Range
    5001..46136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_186

mRNA and Protein(s)

  1. NM_001161529.2NP_001155001.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

    See identical proteins and their annotated locations for NP_001155001.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS35191.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000416437.2, ENST00000432318.8
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. NM_001161530.2NP_001155002.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

    See identical proteins and their annotated locations for NP_001155002.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS55359.1
    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (3) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    pfam13900
    Location:320353
    GVQW; Putative domain of unknown function
  3. NM_001161531.2NP_001155003.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor

    See identical proteins and their annotated locations for NP_001155003.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS55360.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000370920.3, ENST00000381509.8
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  4. NM_001161532.2NP_001155004.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform h

    See identical proteins and their annotated locations for NP_001155004.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS55361.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000440491.1, ENST00000501036.7
    Conserved Domains (1) summary
    pfam09240
    Location:182
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  5. NM_001379153.1NP_001366082.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  6. NM_001379154.1NP_001366083.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Related
    ENSP00000394227.2, ENST00000417535.7
  7. NM_001379155.1NP_001366084.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  8. NM_001379156.1NP_001366085.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  9. NM_001379158.1NP_001366087.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  10. NM_001379159.1NP_001366088.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform i precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553, BX901885
  11. NM_001379160.1NP_001366089.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform j precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  12. NM_001379161.1NP_001366090.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform k precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553, BX901885
  13. NM_001379162.1NP_001366091.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform l precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553, BX901885
  14. NM_001379163.1NP_001366092.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform l precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553, BX901885
  15. NM_001379164.1NP_001366093.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform m precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553, BX901885
  16. NM_001379165.1NP_001366094.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform m precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553, BX901885
  17. NM_001379166.1NP_001366095.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform n precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  18. NM_001379167.1NP_001366096.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  19. NM_001379168.1NP_001366097.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Related
    ENSP00000370911.1, ENST00000381500.6
  20. NM_001379169.1NP_001366098.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
  21. NM_006140.6NP_006131.2  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

    See identical proteins and their annotated locations for NP_006131.2

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS35191.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000370935.3, ENST00000381524.8
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  22. NM_172245.4NP_758448.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

    See identical proteins and their annotated locations for NP_758448.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS35191.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000370940.3, ENST00000381529.8
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  23. NM_172246.4NP_758449.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform b precursor

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS35190.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000347606.3, ENST00000355432.8
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  24. NM_172247.3NP_758450.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

    See identical proteins and their annotated locations for NP_758450.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS35192.1
    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  25. NM_172249.4NP_758452.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform e precursor

    See identical proteins and their annotated locations for NP_758452.1

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Consensus CDS
    CCDS35193.1
    UniProtKB/Swiss-Prot
    P15509
    Related
    ENSP00000348058.2, ENST00000355805.7
    Conserved Domains (1) summary
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

RNA

  1. NR_027760.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX649553
    Related
    ENST00000486791.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    1268814..1325218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546175.2XP_011544477.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X7

    See identical proteins and their annotated locations for XP_011544477.1

    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. XM_011546169.1XP_011544471.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    See identical proteins and their annotated locations for XP_011544471.1

    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  3. XM_011546174.3XP_011544476.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X7

    See identical proteins and their annotated locations for XP_011544476.1

    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  4. XM_011546170.3XP_011544472.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6

    See identical proteins and their annotated locations for XP_011544472.1

    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  5. XM_011546167.2XP_011544469.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

    See identical proteins and their annotated locations for XP_011544469.1

    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  6. XM_011546165.3XP_011544467.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_011544467.1

    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    1268814..1325218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545628.2XP_011543930.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X7

    See identical proteins and their annotated locations for XP_011543930.1

    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. XM_011545622.1XP_011543924.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    See identical proteins and their annotated locations for XP_011543924.1

    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  3. XM_011545627.3XP_011543929.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X7

    See identical proteins and their annotated locations for XP_011543929.1

    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  4. XM_011545623.3XP_011543925.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6

    See identical proteins and their annotated locations for XP_011543925.1

    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  5. XM_011545620.2XP_011543922.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

    See identical proteins and their annotated locations for XP_011543922.1

    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  6. XM_011545618.3XP_011543920.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_011543920.1

    UniProtKB/Swiss-Prot
    P15509
    Conserved Domains (2) summary
    smart00060
    Location:220298
    FN3; Fibronectin type 3 domain
    pfam09240
    Location:121215
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172248.1: Suppressed sequence

    Description
    NM_172248.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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