CSF2RA colony stimulating factor 2 receptor subunit alpha
Gene ID: 1438, updated on 11-Apr-2024Gene type: protein coding
Also known as: GMR; CD116; CSF2R; SMDP4; CDw116; CSF2RX; CSF2RY; GMCSFR; CSF2RAX; CSF2RAY; alphaGMR; GMR-alpha; GMCSFR-alpha; GM-CSF-R-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for CSF2RA
- Go to Variation Viewer for CSF2RA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. GeneReviews: Not available | |
| Surfactant metabolism dysfunction, pulmonary, 4 | See labs |
Genomic context
- Location:
- X;Y
- Sequence:
- Chromosome: X; NC_000023.11 (1268814..1325218)
- Chromosome: Y; NC_000024.10 (1268814..1325218)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CSF2RA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CSF2RA @ LOVD
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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