CXCR4 wt Allele

Preferred Label : CXCR4 wt Allele;

NCIt synonyms : HSY3RR; FB22; LESTR; LAP3; NPY3R; Chemokine (C-X-C Motif) Receptor 4 wt Allele; HM89; D2S201E; NPYR; LCR1; NPYY3R; CXCR-4; CXC-R4; NPYRL; WHIM; CD184; LAP-3; Chemokine, CXC Motif, Receptor 4 Gene; WHIMS;

NCIt definition : Human CXCR4 wild-type allele is located within 2q21 and is approximately 4 kb in length. This allele, which encodes C-X-C chemokine receptor type 4 protein, plays a role in the mediation of leukocyte and hematopoietic cell migration and may be involved in central nervous system development. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome.;

GenBank Accession Number : NM_003467;

Details

Origin ID

C51336;

UMLS CUI

C1707171;

Automatic exact mappings (from CISMeF team)
- 2-amino-3-phosphonopropionic acid [MeSH Supplementary Concept]
- C-X-C motif chemokine 12 receptor activity [GO term]
- C-X-C motif chemokine receptor 4 [ORDO Gene]
- CXCR4 [Blood Transfusion thesaurus concept]
- Chemokine, cxc motif, receptor 4 [OMIM gene]
- Leucine aminopeptidase 3 [OMIM gene]
- Neuropeptide y receptor y1 [OMIM gene]
- WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome [ICD-11 More detail]
- WHIM syndrome [DO Concept]
- Whim syndrome 1 [OMIM Phenotype]
- paronychia [MeSH Descriptor]
- whiplash injuries [MeSH Descriptor]
OMIM relation
- Chemokine, cxc motif, receptor 4 [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_associated_with_disease
- Acquired Immunodeficiency Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 2: 136709450-136705639 [NCIt concept]
gene_in_chromosomal_location
- 2q21 [NCIt concept]
gene_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
- CCR5 Signaling Pathway [NCIt concept]
- CXCR4 Signaling Pathway [NCIt concept]
- CXCR4-Mediated Signaling Pathway [NCIt concept]
- Chemokine Signaling Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Ephrin B Reverse Signaling Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- HIV-1 Infection Pathway [NCIt concept]
- Intestinal IgA Production Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Sphingosine 1-Phosphate Receptor 3 Signaling Pathway [NCIt concept]
- Syndecan-4-Mediated Signaling Pathway [NCIt concept]
- T-Cell Polarization Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Chemotactic Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Immunoregulation [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Myelopoiesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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