CSF3R wt Allele

Preferred Label : CSF3R wt Allele;

NCIt synonyms : SCN7; CD114; GCSFR; Colony-Stimulating Factor 3 Receptor, Granulocyte Gene; GCSF-R; Colony Stimulating Factor 3 Receptor (Granulocyte) Gene; Colony Stimulating Factor 3 Receptor wt Allele;

NCIt definition : Human CSF3R wild-type allele is located within 1p35-p34.3 and is approximately 17 kb in length. This allele, which encodes granulocyte colony-stimulating factor receptor protein, plays a role in the production, differentiation, and function of granulocytes. Mutations in this gene generate variant alleles that are a cause of Kostmann syndrome, or severe congenital neutropenia.;

GenBank Accession Number : NM_156039;

Details

Origin ID

C51350;

UMLS CUI

C1705881;

OMIM relation
- Colony-stimulating factor 3 receptor, granulocyte [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 36617602-36600737 [NCIt concept]
gene_in_chromosomal_location
- 1p35-p34.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Chronic Neutrophilic Leukemia [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Colony Stimulating Factor Signaling Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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