Human Gene CSF2RB (uc003aqa.4) Description and Page Index
Description: Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. RefSeq Summary (NM_000395): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC070085.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000403662.8/ ENSP00000384053.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr22:37,309,675-37,336,479 Size: 26,805 Total Exon Count: 14 Strand: + Coding Region Position: hg19 chr22:37,318,250-37,334,544 Size: 16,295 Coding Exon Count: 13
ID:IL3RB_HUMAN DESCRIPTION: RecName: Full=Cytokine receptor common subunit beta; AltName: Full=CDw131; AltName: Full=GM-CSF/IL-3/IL-5 receptor common beta subunit; AltName: CD_antigen=CD131; Flags: Precursor; FUNCTION: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor. SUBUNIT: Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to- head hexamers of two alpha, two beta, and two ligand subunits. Interacts with TMEM102; this interaction occurs preferentially in the absence of CSF2. Interacts with LYN (By similarity). INTERACTION: P04141:CSF2; NbExp=2; IntAct=EBI-1809771, EBI-1809826; P05113:IL5; NbExp=2; IntAct=EBI-1809771, EBI-2435811; P05556:ITGB1; NbExp=5; IntAct=EBI-1809771, EBI-703066; O60674:JAK2; NbExp=3; IntAct=EBI-1809771, EBI-518647; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. PTM: May be phosphorylated by LYN (By similarity). DISEASE: Defects in CSF2RB are the cause of pulmonary surfactant metabolism dysfunction type 5 (SMDP5) [MIM:614370]. SMDP5 is a rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. SIMILARITY: Belongs to the type I cytokine receptor family. Type 4 subfamily. SIMILARITY: Contains 2 fibronectin type-III domains.
Genetic Association Studies of Complex Diseases and Disorders
Spondylitis, Ankylosing Zhiming Lin et al. Nature genetics 2012, A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P32927
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.