CSF2RA

Protein identityUniProt · HPA

UniProt accession

P15509

Gene

CSF2RA

Ensembl

ENSG00000198223

Chromosome

X

Canonical length

400 aa

Protein class

Cancer-related genes, CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

400 residues, UniProt reviewed canonical sequence.

>P15509|CSF2RA
     1  MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD CQENTTFSKC
    61  FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT SQRGFQQKLL YPNSGREGTA
   121  AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL
   181  DNLSGLTSRN YFLVNGTSRE IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP
   241  RTYQKLSYLD FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD
   301  VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL RIQRLFPPVP
   361  QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CSF2RA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

60 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CSF2RA.

Disease | AllUniProt

Conditions CSF2RA is implicated in, by any mechanism.

• Pulmonary surfactant metabolism dysfunction 4 (SMDP4) MIM:300770

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 1,291 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Surfactant metabolism dysfunction, pulmonary, 4
• CSF2RA-related disorder
• Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.12

gnomAD pLI

0

gnomAD missense Z

-0.84

OntologyGO

Biological processes

• cell surface receptor signaling pathway via JAK-STAT
• cytokine-mediated signaling pathway
• granulocyte-macrophage colony-stimulating factor signaling pathway
• growth hormone receptor signaling pathway
• positive regulation of cell population proliferation
• positive regulation of leukocyte proliferation
• positive regulation of receptor signaling pathway via JAK-STAT

Molecular functions

• cytokine binding
• growth hormone receptor activity
• peptide hormone binding
• signaling receptor activity

Cellular components

• cytosol
• external side of plasma membrane
• extracellular region
• granulocyte macrophage colony-stimulating factor receptor complex
• growth hormone receptor complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Short hematopoietin receptor, family 2, conserved site
• Fibronectin type III
• Immunoglobulin-like fold
• Type I cytokine receptor, cytokine-binding domain
• Fibronectin type III superfamily
• IL-3 receptor alpha chain, N-terminal
• Interleukin-6 receptor alpha chain, binding
• IL-3 receptor alpha chain N-terminal domain

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Membrane
• Receptor
• Secreted
• Signal
• Transmembrane
• Transmembrane helix