Endometriosis Knowledgebase

Search Result

Gene id

1439

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CSF2RB Gene UCSC Ensembl

Aliases

CD131, CDw131, IL3RB, IL5RB, SMDP5

Gene name

colony stimulating factor 2 receptor beta common subunit

Alternate names

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

Gene location

22q12.3 (36913573: 36940448) Exons: 14 NC_000022.11

Gene summary(Entrez)

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]

OMIM

138981

Protein Summary

Protein general information

P32927

Name: Cytokine receptor common subunit beta (CDw131) (GM CSF/IL 3/IL 5 receptor common beta subunit) (CD antigen CD131)

Length: 897 Mass: 97,336

Sequence

MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSC
DLSDDMPWSACPHPRCVPRRCVIPCQSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLL
TWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRLSGR
PSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSL
HTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQ
YRKDTATWKDSKTETLQNAHSMALPALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVI
FLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVF
PVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSR
SLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPA
PPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLAS
GPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFL
PGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC

Structural information

Protein Domains	Fibronectin (133-240) Fibronectin (339-436)
Motifs	WSXWS motif(425-429) Box 1(474-482)
Interpro:	IPR003961 IPR003531 IPR013783 IPR011365 IPR015373 IPR015321
Prosite:	PS50853 PS01355
Pfam:	PF09240 PF09294
CDD:	cd00063
PDB:	1C8P 1EGJ 1GH7 2GYS 2NA8 2NA9 4NKQ 5DWU
PDBsum:	1C8P 1EGJ 1GH7 2GYS 2NA8 2NA9 4NKQ 5DWU
DIP:	127
MINT:	105697
STRING:	ENSP00000384053;

Other Databases

GeneCards: CSF2RB; Malacards: CSF2RB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological_process
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0007165	signal transduction	NAS	biological_process
GO:0007585	respiratory gaseous excha nge	TAS	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IEA	biological_process
GO:0030526	granulocyte macrophage co lony-stimulating factor r eceptor complex	TAS	cellular_component
GO:0036016	cellular response to inte rleukin-3	IEA	biological_process
GO:0038043	interleukin-5-mediated si gnaling pathway	IEA	biological_process
GO:0038156	interleukin-3-mediated si gnaling pathway	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0004912	interleukin-3 receptor ac tivity	TAS	molecular_function
GO:0004914	interleukin-5 receptor ac tivity	TAS	molecular_function
GO:0000165	MAPK cascade	TAS	biological_process
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0004896	cytokine receptor activit y	IEA	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007165	signal transduction	NAS	biological_process
GO:0007165	signal transduction	NAS	biological_process
GO:0007585	respiratory gaseous excha nge	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0018108	peptidyl-tyrosine phospho rylation	IEA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IEA	biological_process
GO:0030526	granulocyte macrophage co lony-stimulating factor r eceptor complex	TAS	cellular_component
GO:0036016	cellular response to inte rleukin-3	IEA	biological_process
GO:0038043	interleukin-5-mediated si gnaling pathway	IEA	biological_process
GO:0038156	interleukin-3-mediated si gnaling pathway	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0004912	interleukin-3 receptor ac tivity	TAS	molecular_function
GO:0004914	interleukin-5 receptor ac tivity	TAS	molecular_function
GO:0000165	MAPK cascade	TAS	biological_process
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007165	signal transduction	NAS	biological_process
GO:0007165	signal transduction	NAS	biological_process
GO:0007585	respiratory gaseous excha nge	TAS	biological_process
GO:0030526	granulocyte macrophage co lony-stimulating factor r eceptor complex	TAS	cellular_component
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0004912	interleukin-3 receptor ac tivity	TAS	molecular_function
GO:0004914	interleukin-5 receptor ac tivity	TAS	molecular_function

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
hsa04210  Apoptosis

Diseases

Associated diseases	References
Adenomyosis	PMID: 11963838
Asthma	PMID: 17362254
Endometriosis	PMID: 19401003
Schizophrenia	PMID: 19065143
Endometriosis	INFBASE8092224
Spondylitis	PMID: 22138694
Tubal factor infertility	PMID: 9811536

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19401003	Endometrio sis			72 (34 with end ometriosis, 38 without endomet riosis)		AMH FSH TNF GM-CSF VEGF	Show abstract
8092224	Endometrio sis			27 (19 endometr ial biopsy samp les, 8 disease free patients)		GM-CSF	Show abstract