ACKR1 atypical chemokine receptor 1 (Duffy blood group)
Gene ID: 2532, updated on 11-Apr-2024Gene type: protein coding
Also known as: FY; Dfy; GPD; DARC; GpFy; CCBP1; CD234; WBCQ1; DARC/ACKR1
- See all available tests in GTR for this gene
- Go to complete Gene record for ACKR1
- Go to Variation Viewer for ACKR1 variants
Summary
The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. GeneReviews: Not available | |
| A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study. GeneReviews: Not available | |
| Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche. GeneReviews: Not available | |
| Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
| Duffy Blood group system | See labs |
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available | |
| Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. GeneReviews: Not available | |
| Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children. GeneReviews: Not available | |
| Malaria, susceptibility to | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| White blood cell count quantitative trait locus 1 | See labs |
Genomic context
- Location:
- 1q23.2
- Sequence:
- Chromosome: 1; NC_000001.11 (159204875..159206500)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACKR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Blood Group Antigen Gene Mutation Database (BGMUT)
- ClinVarRelated medical variations
- DARC database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.