Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1439
Gene name	Colony stimulating factor 2 receptor subunit beta
Gene symbol	CSF2RB
Synonyms (NCBI Gene)	CD131CDw131IL3RBIL5RBSMDP5betaGMR
Chromosome	22
Chromosome location	22q12.3
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]

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SNP ID	Visualize variation	Clinical significance	Consequence
rs672601313	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained

Show/Hide all (85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT756278	hsa-miR-877-3p	qRT-PCRELISA	34768991
MIRT911750	hsa-miR-1297	CLIP-seq
MIRT911751	hsa-miR-132	CLIP-seq
MIRT911752	hsa-miR-137	CLIP-seq
MIRT911753	hsa-miR-150	CLIP-seq
MIRT911754	hsa-miR-155	CLIP-seq
MIRT911755	hsa-miR-181a	CLIP-seq
MIRT911756	hsa-miR-181b	CLIP-seq
MIRT911757	hsa-miR-181c	CLIP-seq
MIRT911758	hsa-miR-181d	CLIP-seq
MIRT911759	hsa-miR-188-3p	CLIP-seq
MIRT911760	hsa-miR-204	CLIP-seq
MIRT911761	hsa-miR-210	CLIP-seq
MIRT911762	hsa-miR-211	CLIP-seq
MIRT911763	hsa-miR-212	CLIP-seq
MIRT911764	hsa-miR-214	CLIP-seq
MIRT911765	hsa-miR-25	CLIP-seq
MIRT911766	hsa-miR-26a	CLIP-seq
MIRT911767	hsa-miR-26b	CLIP-seq
MIRT911768	hsa-miR-3145-3p	CLIP-seq
MIRT911769	hsa-miR-3199	CLIP-seq
MIRT911770	hsa-miR-32	CLIP-seq
MIRT911771	hsa-miR-3201	CLIP-seq
MIRT911772	hsa-miR-342-3p	CLIP-seq
MIRT911773	hsa-miR-3607-5p	CLIP-seq
MIRT911774	hsa-miR-3613-3p	CLIP-seq
MIRT911775	hsa-miR-3619-3p	CLIP-seq
MIRT911776	hsa-miR-3619-5p	CLIP-seq
MIRT911777	hsa-miR-363	CLIP-seq
MIRT911778	hsa-miR-365	CLIP-seq
MIRT911779	hsa-miR-367	CLIP-seq
MIRT911780	hsa-miR-3673	CLIP-seq
MIRT911781	hsa-miR-3689d	CLIP-seq
MIRT911782	hsa-miR-382	CLIP-seq
MIRT911783	hsa-miR-3913-3p	CLIP-seq
MIRT911784	hsa-miR-4262	CLIP-seq
MIRT911785	hsa-miR-4291	CLIP-seq
MIRT911786	hsa-miR-4420	CLIP-seq
MIRT911787	hsa-miR-4422	CLIP-seq
MIRT911788	hsa-miR-4446-5p	CLIP-seq
MIRT911789	hsa-miR-4465	CLIP-seq
MIRT911790	hsa-miR-4515	CLIP-seq
MIRT911791	hsa-miR-4645-5p	CLIP-seq
MIRT911792	hsa-miR-4673	CLIP-seq
MIRT911793	hsa-miR-4718	CLIP-seq
MIRT911794	hsa-miR-4755-5p	CLIP-seq
MIRT911795	hsa-miR-4791	CLIP-seq
MIRT911796	hsa-miR-499-3p	CLIP-seq
MIRT911797	hsa-miR-499a-3p	CLIP-seq
MIRT911798	hsa-miR-543	CLIP-seq
MIRT911799	hsa-miR-623	CLIP-seq
MIRT911800	hsa-miR-761	CLIP-seq
MIRT911801	hsa-miR-889	CLIP-seq
MIRT911802	hsa-miR-922	CLIP-seq
MIRT911803	hsa-miR-92a	CLIP-seq
MIRT911804	hsa-miR-92b	CLIP-seq
MIRT1970296	hsa-miR-24	CLIP-seq
MIRT1970297	hsa-miR-3074-5p	CLIP-seq
MIRT1970298	hsa-miR-3161	CLIP-seq
MIRT1970299	hsa-miR-3200-5p	CLIP-seq
MIRT1970300	hsa-miR-4264	CLIP-seq
MIRT1970301	hsa-miR-4797-3p	CLIP-seq
MIRT1970302	hsa-miR-486-5p	CLIP-seq
MIRT1970303	hsa-miR-622	CLIP-seq
MIRT911755	hsa-miR-181a	CLIP-seq
MIRT911756	hsa-miR-181b	CLIP-seq
MIRT911757	hsa-miR-181c	CLIP-seq
MIRT911758	hsa-miR-181d	CLIP-seq
MIRT911772	hsa-miR-342-3p	CLIP-seq
MIRT911774	hsa-miR-3613-3p	CLIP-seq
MIRT911784	hsa-miR-4262	CLIP-seq
MIRT2447707	hsa-miR-1976	CLIP-seq
MIRT2447708	hsa-miR-3183	CLIP-seq
MIRT2447709	hsa-miR-378	CLIP-seq
MIRT2447710	hsa-miR-378b	CLIP-seq
MIRT2447711	hsa-miR-378c	CLIP-seq
MIRT2447712	hsa-miR-378d	CLIP-seq
MIRT2447713	hsa-miR-378e	CLIP-seq
MIRT2447714	hsa-miR-378f	CLIP-seq
MIRT2447715	hsa-miR-378h	CLIP-seq
MIRT2447716	hsa-miR-378i	CLIP-seq
MIRT2447717	hsa-miR-422a	CLIP-seq
MIRT2447718	hsa-miR-4638-3p	CLIP-seq
MIRT2447719	hsa-miR-4723-3p	CLIP-seq
MIRT2447720	hsa-miR-760	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004912	Function	Interleukin-3 receptor activity	TAS	9410898
GO:0004914	Function	Interleukin-5 receptor activity	TAS	9410898
GO:0005515	Function	Protein binding	IPI	1495999, 9516124, 16437163, 17828305, 18692472, 20802515, 29374162
GO:0005886	Component	Plasma membrane	IDA	1495999
GO:0005886	Component	Plasma membrane	NAS	1396555
GO:0005886	Component	Plasma membrane	NAS	1702217
GO:0005886	Component	Plasma membrane	TAS	7556069
GO:0007165	Process	Signal transduction	NAS	1702217, 1833065
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IBA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	18692472
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	9410898
GO:0009897	Component	External side of plasma membrane	IBA
GO:0015026	Function	Coreceptor activity	IDA	7957082, 8649415
GO:0016020	Component	Membrane	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0030526	Component	Granulocyte macrophage colony-stimulating factor receptor complex	IDA	27396825
GO:0030526	Component	Granulocyte macrophage colony-stimulating factor receptor complex	TAS	9410898
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0036016	Process	Cellular response to interleukin-3	IEA
GO:0038023	Function	Signaling receptor activity	TAS	9410898
GO:0038043	Process	Interleukin-5-mediated signaling pathway	IBA
GO:0038043	Process	Interleukin-5-mediated signaling pathway	IDA	7613138
GO:0038043	Process	Interleukin-5-mediated signaling pathway	IDA	1495999
GO:0038156	Process	Interleukin-3-mediated signaling pathway	IBA
GO:0038156	Process	Interleukin-3-mediated signaling pathway	IDA	8007942
GO:0038156	Process	Interleukin-3-mediated signaling pathway	IDA	8649415
GO:0038157	Process	Granulocyte-macrophage colony-stimulating factor signaling pathway	IBA
GO:0038157	Process	Granulocyte-macrophage colony-stimulating factor signaling pathway	IDA	18692472
GO:0070665	Process	Positive regulation of leukocyte proliferation	IBA
GO:0070665	Process	Positive regulation of leukocyte proliferation	IDA	18692472

MIM	HGNC	e!Ensembl
138981	2436	ENSG00000100368

P32927

Protein name

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

Protein function

Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with differ

PDB

1C8P , 1EGJ , 1GH7 , 2GYS , 2NA8 , 2NA9 , 4NKQ , 5DWU , 8TLD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09294	Interfer-bind	323 → 430	Interferon-alpha/beta receptor, fibronectin type III	Domain

Sequence

MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVT
LIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPCQSFVVTDVDYFSFQPDRPLG
TRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQD
SWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPG
DEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSL
HTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWET
MKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALPALEPSTRYWARVRVRTSRTG
YNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPN
PSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIE
DPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSR
SLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQ
GAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFT
PNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSP
RNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPS
SPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC

Sequence length

897

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction Apoptosis JAK-STAT signaling pathway Pathways in cancer		Interleukin-3, Interleukin-5 and GM-CSF signaling RAF/MAP kinase cascade Surfactant metabolism Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) Interleukin receptor SHC signaling

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CSF2RB-related disorder	Likely pathogenic	rs769513501	RCV003419100
Surfactant metabolism dysfunction, pulmonary, 5	Pathogenic	rs2517990619	RCV000022596

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign; Conflicting classifications of pathogenicity	rs117689490, rs6000488, rs113156338, rs186445757, rs16997510	RCV005919259 RCV005923600 RCV005924127 RCV005894925 RCV005894927
Cholangiocarcinoma	Benign	rs738149	RCV005922402
Gastric cancer	Benign; Uncertain significance	rs738149, rs1290001450, rs16997510	RCV005922401 RCV005925377 RCV005894930
Lung cancer	Likely benign; Benign	rs117689490, rs6000488	RCV005919262 RCV005923603
Lymphoma	Benign	rs16997510	RCV005894931
Malignant lymphoma, large B-cell, diffuse	Benign	rs6000488, rs1801117	RCV005923601 RCV005894924
Malignant tumor of esophagus	Likely benign; Benign	rs117689490, rs16997510	RCV005919260 RCV005894928
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs117689490, rs16997510	RCV005919261 RCV005894932
Sarcoma	Benign	rs186445757, rs16997510	RCV005894926 RCV005894929
Thymoma	Benign	rs6000488	RCV005923602
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs759452223	RCV005936584

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33839701
Adenomatous Polyposis Coli	Associate	27377463
alpha Thalassemia	Associate	3337909
Anemia Refractory with Excess of Blasts	Inhibit	11122148
Atherosclerosis	Associate	34122426
Autoimmune Diseases	Associate	36532080
beta Thalassemia	Associate	8417793
Breast Neoplasms	Associate	34729943
Chronic Limb Threatening Ischemia	Stimulate	24055514
Colorectal Neoplasms	Associate	29516317
Crohn Disease	Associate	27373512, 27377463
Diabetic Nephropathies	Associate	36154667
Drug Hypersensitivity	Associate	21071541
Hemoglobin SC Disease	Associate	9326250
Hemoglobinopathies	Associate	8178823
Infections	Associate	11122148
Inflammation	Associate	36171010
Intracranial Aneurysm	Associate	36451838
Leukemia	Associate	15928038, 34729943, 9414269
Leukemia Myelomonocytic Chronic	Associate	39298477
Leukemia T Cell	Inhibit	11122148
Lung Diseases	Associate	9410898
Lung Neoplasms	Associate	37335631
Lupus Erythematosus Systemic	Stimulate	36532080
Malaria	Associate	19930602
Metabolic Syndrome	Associate	28178938
Multiple Sclerosis	Associate	36532080
Myelodysplastic Syndromes	Inhibit	11122148
Neoplasms	Associate	31881847
Neoplasms Squamous Cell	Associate	21071541
Periodontitis	Associate	24631628
Philadelphia Chromosome	Associate	9326250
Pneumonia	Associate	36171010
Polyhydramnios Chronic Idiopathic	Associate	20458061
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	19036083
Psoriasis	Associate	34122426
Pulmonary Alveolar Proteinosis	Associate	9410898
Pulmonary Arterial Hypertension	Associate	26787464
Rhinitis Allergic Seasonal	Associate	21071541
Salivary Gland Diseases	Associate	39331939
Sjogren's Syndrome	Stimulate	39331939
Stomach Neoplasms	Associate	38425243
Surfactant Dysfunction	Associate	33526882
Uterine Cervical Neoplasms	Associate	21071541
X linked sideroblastic anemia	Inhibit	11122148

CSF2RB (colony stimulating factor 2 receptor subunit beta)