CSF2RB (colony stimulating factor 2 receptor subunit beta)

Gene

• Entrez ID: 1439
• Gene name: Colony stimulating factor 2 receptor subunit beta
• Gene symbol: CSF2RB
• Synonyms: CD131, CDw131, IL3RB, IL5RB, SMDP5, betaGMR
• 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]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT756278	hsa-miR-877-3p	qRT-PCR, ELISA	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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
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
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	1702217
GO:0007165	Process	Signal transduction	NAS	1702217
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	9410898
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
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	IEA
GO:0038156	Process	Interleukin-3-mediated signaling pathway	IEA
GO:0044267	Process	Cellular protein metabolic process	TAS

Other IDs

• MIM: 138981
• HGNC: 2436
• e!Ensembl: ENSG00000100368

Protein

• UniProt ID: 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

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Apoptosis
JAK-STAT signaling pathway
Pathways in cancer

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hereditary pulmonary alveolar proteinosis	Hereditary pulmonary alveolar proteinosis	rs35328240, rs121917834, rs754714105, rs775903641, rs1596842934, rs756855585
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17667962, 18547720, 21247258
Surfactant metabolism dysfunction, pulmonary	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5	rs137852353, rs35328240, rs1553380888, rs1586422427, rs121917834, rs121917835, rs121918559, rs121917836, rs121918560, rs1554476282, rs1558572491, rs779795223, rs2091055139, rs1395037247, rs2091299213	15331184, 21075760

Unknown
Disease name	Disease term	dbSNP ID	References
Alveolar proteinosis	Pulmonary Alveolar Proteinosis		21075760, 15331184
Congenital pulmonary alveolar proteinosis	Pulmonary alveolar proteinosis, congenital		21205713, 21075760
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	21247258
Psychosis	Psychotic Disorders		21247258