Colony-Stimulating Factor 3 Receptor, Granulocyte

Alternative Names

  • CSF3R
  • Granulocyte Colony-Stimulating Factor Receptor
  • GCSFR
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OMIM Number

138971

NCBI Gene ID

1441

Uniprot ID

Q99062

Length

17,272 bases

No. of Exons

18

No. of isoforms

4

Protein Name

Granulocyte colony-stimulating factor receptor

Molecular Mass

92156 Da

Amino Acid Count

836

Genomic Location

chr1:36,466,043-36,483,314

Gene Map Locus
1p34.3

Description

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_156039.3:c.1015delUnited Arab EmiratesNC_000001.11:g.36472123delNG_016270.1:g.15787del; NM_156039.3:c.1015del; NP_724781.1:p.Asp339ThrfsTer94
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