CSF3R colony stimulating factor 3 receptor

Gene ID: 1441, updated on 1-Oct-2024
Gene type: protein coding
Also known as: SCN7; CD114; GCSFR

Summary

The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency MedGen: C4310764OMIM: 617014GeneReviews: Not available	See labs
Hereditary neutrophilia MedGen: C0543669OMIM: 162830GeneReviews: Not available	See labs

Genomic context

Location:: 1p34.3

Sequence:: Chromosome: 1; NC_000001.11 (36466043..36483314, complement)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CSF3R variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
CSF3R database
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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