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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Discovery of a novel potentially transforming somatic mutation in CSF2RB gene in breast cancer.
Title: Discovery of a novel potentially transforming somatic mutation in CSF2RB gene in breast cancer.
The IL-3, IL-5, and GM-CSF common receptor beta chain mediates oncogenic activity of FLT3-ITD-positive AML.
Title: The IL-3, IL-5, and GM-CSF common receptor beta chain mediates oncogenic activity of FLT3-ITD-positive AML.
The Truncated Splice Variant of the Granulocyte-Macrophage-Colony-Stimulating Factor Receptor beta- Chain in Peripheral Blood Serves as Severity Biomarker of Respiratory Failure in Newborns.
Title: The Truncated Splice Variant of the Granulocyte-Macrophage-Colony-Stimulating Factor Receptor β- Chain in Peripheral Blood Serves as Severity Biomarker of Respiratory Failure in Newborns.
Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.
Title: Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.
Missense mutations in CSF2RB gene is associated with Pediatric Crohn's Disease.
Title: Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
This study provides a platform for studying the in vivo effect of Flt3-L and GM-CSF on human DCs and regulatory T cells.
Title: Introduction of Human Flt3-L and GM-CSF into Humanized Mice Enhances the Reconstitution and Maturation of Myeloid Dendritic Cells and the Development of Foxp3(+)CD4(+) T Cells.
SYK mediates the actions of EPO and GM-CSF and coordinates with TGF-beta in erythropoiesis.
Title: Spleen tyrosine kinase mediates the actions of EPO and GM-CSF and coordinates with TGF-β in erythropoiesis.
Exome sequencing identified candidate variants, including a missense mutation in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with Crohn's Disease in an independent cohort of Ashkenazi Jewish individuals.
Title: Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.
In a genetic analysis of Ashkenazi Jewish individuals, we associated Crohn's Disease with a frameshift mutation in CSF2RB. Intestinal monocytes from carriers of this mutation had reduced responses to granulocyte-macrophage colony-stimulating factor, providing an additional mechanism for alterations to the innate immune response in individuals with Crohn's Disease.
Title: A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.
VitD-mediated stimulation of GC anti-inflammatory affects human monocytes in a process involving GM-CSF and MED14
Title: Vitamin D enhances glucocorticoid action in human monocytes: involvement of granulocyte-macrophage colony-stimulating factor and mediator complex subunit 14.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH47094 (e-PCR)
- UniSTS:28421

WIAF-1672 (e-PCR)
- UniSTS:88883

D22S102 (e-PCR)
- UniSTS:148800

G60036 (e-PCR)
- UniSTS:137302

G60037 (e-PCR)
- UniSTS:137303

G60062 (e-PCR)
- UniSTS:137324

G15967 (e-PCR)
- UniSTS:13456

D22S527 (e-PCR)
- UniSTS:20963

RH17707 (e-PCR)
- UniSTS:32483

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

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to interleukin-3	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in granulocyte-macrophage colony-stimulating factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in immunoglobulin mediated immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-3-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-5-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of leukocyte proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory gaseous exchange by respiratory system	TAS Traceable Author Statement more info	PubMed
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of granulocyte macrophage colony-stimulating factor receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of granulocyte macrophage colony-stimulating factor receptor complex	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_008040.1 RefSeqGene

Range

4996..31807

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000395.3 → NP_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:133 → 233

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:339 → 428

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 ...
NM_001410827.1 → NP_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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

36913628..36940439

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q6NSJ8

Conserved Domains (2) summary

cd00063
Location:133 → 233

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:345 → 434

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 ...
XM_047441149.1 → XP_047297105.1 cytokine receptor common subunit beta isoform X4
XM_011529904.3 → XP_011528206.1 cytokine receptor common subunit beta isoform X2

UniProtKB/TrEMBL

Q6NSJ8

Conserved Domains (2) summary

cd00063
Location:133 → 233

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:339 → 428

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 ...
XM_047441150.1 → XP_047297106.1 cytokine receptor common subunit beta isoform X5
XM_047441148.1 → XP_047297104.1 cytokine receptor common subunit beta isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

37372586..37399383

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325116.1 → XP_054181091.1 cytokine receptor common subunit beta isoform X1
XM_054325119.1 → XP_054181094.1 cytokine receptor common subunit beta isoform X4
XM_054325117.1 → XP_054181092.1 cytokine receptor common subunit beta isoform X2
XM_054325120.1 → XP_054181095.1 cytokine receptor common subunit beta isoform X5
XM_054325118.1 → XP_054181093.1 cytokine receptor common subunit beta isoform X3