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

Gene ID: 1439, updated on 27-Nov-2024

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; AllianceGenome:HGNC:2436
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
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Genomic context

See CSF2RB in Genome Data Viewer
Location:
22q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36913628..36940439)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37372586..37399383)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37309670..37336481)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NCF4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37267835-37268373 Neighboring gene neutrophil cytosolic factor 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:37275012-37275204 Neighboring gene uncharacterized LOC105373022 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:37291564-37292117 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37296897-37297462 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:37297463-37298028 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37307503-37308204 Neighboring gene uncharacterized LOC105373023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37318330-37318900 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:37321546-37322745 Neighboring gene uncharacterized LOC124900478 Neighboring gene uncharacterized LOC124905162 Neighboring gene CSF2RB pseudogene 1

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables coreceptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 

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)

NEW Try the new Transcript table

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 isoform 2 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, Q5JZI1, Q6ICE0
    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 ...
  2. NM_001410827.1NP_001397756.1  cytokine receptor common subunit beta isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL008637, AL133392
    Consensus CDS
    CCDS93160.1
    Related
    ENSP00000385271.1, ENST00000406230.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    36913628..36940439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529903.3XP_011528205.1  cytokine receptor common subunit beta isoform X1

    UniProtKB/TrEMBL
    Q6NSJ8
    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_047441149.1XP_047297105.1  cytokine receptor common subunit beta isoform X4

  3. XM_011529904.3XP_011528206.1  cytokine receptor common subunit beta isoform X2

    UniProtKB/TrEMBL
    Q6NSJ8
    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_047441150.1XP_047297106.1  cytokine receptor common subunit beta isoform X5

  5. XM_047441148.1XP_047297104.1  cytokine receptor common subunit beta isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    37372586..37399383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325116.1XP_054181091.1  cytokine receptor common subunit beta isoform X1

  2. XM_054325119.1XP_054181094.1  cytokine receptor common subunit beta isoform X4

  3. XM_054325117.1XP_054181092.1  cytokine receptor common subunit beta isoform X2

  4. XM_054325120.1XP_054181095.1  cytokine receptor common subunit beta isoform X5

  5. XM_054325118.1XP_054181093.1  cytokine receptor common subunit beta isoform X3