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CSF2RB colony stimulating factor 2 receptor subunit beta [ Homo sapiens (human) ]

Gene ID: 1439, updated on 1-Jun-2020

Summary

Official Symbol
CSF2RBprovided by HGNC
Official Full Name
colony stimulating factor 2 receptor subunit betaprovided by HGNC
Primary source
HGNC:HGNC:2436
See related
Ensembl:ENSG00000100368 MIM:138981
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
CD131; IL3RB; IL5RB; SMDP5; CDw131; betaGMR
Summary
The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]
Expression
Biased expression in appendix (RPKM 40.5), lymph node (RPKM 21.2) and 12 other tissues See more
Orthologs

Genomic context

See CSF2RB in Genome Data Viewer
Location:
22q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36913574..36940449)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37309639..37336491)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NCF4 antisense RNA 1 Neighboring gene neutrophil cytosolic factor 4 Neighboring gene uncharacterized LOC105373022 Neighboring gene uncharacterized LOC105373023 Neighboring gene CSF2RB pseudogene 1 Neighboring gene uncharacterized protein FLJ39582-like

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
Surfactant metabolism dysfunction, pulmonary, 5
MedGen: C3280574 OMIM: 614370 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to interleukin-3 receptor activity TAS
Traceable Author Statement
more info
PubMed 
contributes_to interleukin-5 receptor activity TAS
Traceable Author Statement
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
 
cellular response to interleukin-3 IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-3-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
interleukin-5-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange TAS
Traceable Author Statement
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
granulocyte macrophage colony-stimulating factor receptor complex TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cytokine receptor common subunit beta
Names
GM-CSF/IL-3/IL-5 receptor common beta subunit
GM-CSF/IL-3/IL-5 receptor common beta-chain
beta common cytokine receptor
beta-GM-CSF receptor
colony stimulating factor 2 receptor beta common subunit
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
colony-stimulating factor-2 receptor, beta, low-affinity
interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity)

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_008040.1 RefSeqGene

    Range
    4996..31807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000395.3NP_000386.1  cytokine receptor common subunit beta precursor

    See identical proteins and their annotated locations for NP_000386.1

    Status: REVIEWED

    Source sequence(s)
    AL008637, AL133392, BC070085
    Consensus CDS
    CCDS13936.1
    UniProtKB/Swiss-Prot
    P32927
    UniProtKB/TrEMBL
    Q6NSJ8
    Related
    ENSP00000384053.3, ENST00000403662.8
    Conserved Domains (2) summary
    cd00063
    Location:133233
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl21522
    Location:339428
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    36913574..36940449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529903.2XP_011528205.1  cytokine receptor common subunit beta isoform X1

    Conserved Domains (2) summary
    cd00063
    Location:133233
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl21522
    Location:345434
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  2. XM_005261340.3XP_005261397.1  cytokine receptor common subunit beta isoform X3

    See identical proteins and their annotated locations for XP_005261397.1

    UniProtKB/Swiss-Prot
    P32927
    Related
    ENSP00000385271.1, ENST00000406230.5
    Conserved Domains (2) summary
    cd00063
    Location:133233
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl21522
    Location:345434
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  3. XM_011529904.2XP_011528206.1  cytokine receptor common subunit beta isoform X2

    Conserved Domains (2) summary
    cd00063
    Location:133233
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl21522
    Location:339428
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  4. XM_011529905.2XP_011528207.1  cytokine receptor common subunit beta isoform X4

    Conserved Domains (2) summary
    cd00063
    Location:133233
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl21522
    Location:345434
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
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