CSF2RB

Chr 22AR

colony stimulating factor 2 receptor subunit beta

NCBI Gene: 1439ENSG00000100368UniProt: P32927

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 different partners such as IL3RA, IL5RA or CSF2RA (PubMed:1495999). In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway (PubMed:9516124)

Primary Disease Associations & Inheritance

Surfactant metabolism dysfunction, pulmonary, 5MIM #614370
AR
UniProtPulmonary surfactant metabolism dysfunction 5
907
ClinVar variants
0
Pathogenic / LP
0.18
pLI score
1
Active trials
Clinical Summary— CSF2RB
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
322 VUS of 907 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.44LOEUF
pLI 0.176
Z-score 4.00
OE 0.24 (0.14–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.13Z-score
OE missense 0.98 (0.92–1.06)
518 obs / 526.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.24 (0.14–0.44)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.92–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.15
0≤1.21.6
LoF obs/exp: 8 / 32.7Missense obs/exp: 518 / 526.3Syn Z: -1.81

ClinVar Variant Classifications

907 submitted variants in ClinVar

ClinVar

Classification Summary

VUS322
Likely Benign170
Conflicting3
322
VUS
170
Likely Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
8
294
15
5
322
Likely Benign
0
6
47
117
170
Benign
0
0
0
0
0
Conflicting
—3
Total830062122495

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CSF2RB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Surfactant metabolism dysfunction, pulmonary, 5

MIM #614370

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Single-cell transcriptomics identifies pathogenic T-helper 17.1 cells and pro-inflammatory monocytes in immune checkpoint inhibitor-related pneumonitis.
Franken A et al.·J Immunother Cancer
2022
Erythropoietin (EPO) as a Key Regulator of Erythropoiesis, Bone Remodeling and Endothelial Transdifferentiation of Multipotent Mesenchymal Stem Cells (MSCs): Implications in Regenerative Medicine.
Tsiftsoglou AS·Cells
2021Review
Dissecting the role of CSF2RB expression in human regulatory T cells.
Côrte-Real BF et al.·Front Immunol
2022
Interstitial lung diseases in children.
Nathan N et al.·Presse Med
2020Review
Genetic causes and clinical management of pediatric interstitial lung diseases.
Nathan N et al.·Curr Opin Pulm Med
2018Review
Identification of neutrophil extracellular trap-driven gastric cancer heterogeneity and C5AR1 as a therapeutic target.
Zhao J et al.·Acta Biochim Biophys Sin (Shanghai)
2024
Machine Learning-Based Transcriptomic Diagnosis of Periodontitis.
Cheng Y et al.·Int Dent J
2026
Exploring potential therapeutic targets for cardiomyopathy: A proteome-wide Mendelian randomization analysis.
Ji Y et al.·Medicine (Baltimore)
2025
Cbfb/Runx1 repression-independent blockage of differentiation and accumulation of Csf2rb-expressing cells by Cbfb-MYH11.
Hyde RK et al.·Blood
2010
Single-cell RNA-seq combined with bulk RNA-seq analysis identifies necroptosis-related genes as therapeutic targets for periodontitis.
Zhu F et al.·BMC Med Genomics
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
In silico analysis of CSF2RB from cancer genomic databases reveals a heterogeneous role in different breast cancer subtypes.
Alshelaiel R et al.·Front Bioinform
2025🔓 Open Access
Investigating the expression of CD180, LY96, VCAM-1, and CSF2RB in the lipopolysaccharide response pathway across different liver cirrhosis etiologies.
Marhamati S et al.·Mol Biol Rep
2025
Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation.
Li Q et al.·Front Pharmacol
2023🔓 Open AccessCase report
CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.
Papiris SA et al.·ERJ Open Res
2023🔓 Open Access
Identification of a novel survival predictor, CSF2RB, for female lung cancer in never smokers (LCNS) by a bioinformatics analysis.
Zhou YY et al.·Medicine (Baltimore)
2023🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Idiopathic Interstitial Pneumopathy/Pneumopathy Interstitial DiffusePaediatric and Adult Patients

RaDiCo PID Cohort (RaDiCo-ILD Cohort in English)

RECRUITING
NCT04238871Institut National de la Santé Et de la Recherche Médicale, FranceStarted 2017-06-21

External Resources

Links to major genomics databases and tools