Have questions? Visit https://www.reddit.com/r/SNPedia

ACKR1

From SNPedia

is agene
is mentioned by
Full nameatypical chemokine receptor 1 (Duffy blood group)
Other namesDARC
EntrezGene2532
PheGenI2532
VariationViewer2532
ClinVarACKR1
GeneCardsACKR1
dbSNP2532
DiseasesACKR1
SADR2532
HugeNav2532
wikipediaACKR1
googleACKR1
gopubmedACKR1
EVSACKR1
HEFalMpACKR1
MyGene2ACKR1
23andMeACKR1
UniProtQ16570
EnsemblENSG00000213088
OMIM613665
# SNPs7
 Max MagnitudeChromosome positionSummary
rs120751159,205,564
rs139620159,205,737
rs28147781159,204,893
rs3027009159,204,097
rs3027012159,204,333
rs345990822159,205,704
rs5877765070159,205,725

ACKR1 is the approved gene symbol for DARC, the Duffy Antigen Receptor for Chemokines.

ACKR1 encodes for the Duffy blood group antigen, also called Fy glycoprotein (FY) or CD234 (Cluster of Differentiation 234). There are 2 major codominant alleles: FY*A and FY*B, encoded by rs12075, resulting in the common phenotypes: Fy(a+b+), Fy(a+b-), and Fy(a-b+). Frequencies for these three phenotypes vary but one source cites the following:

  • Fy(a+b+): 49% Caucasians, 1% Blacks, 9% Chinese
  • Fy(a-b+): 34% Caucasians, 22% Blacks, <1% Chinese
  • Fy(a+b-): 17% Caucasians, 9% Blacks, 91% Chinese


In the promoter region of the ACKR1 gene, at rs2814778, a variant exists that abolishes all Duffy antigen. As a result, individuals who are homozygous for this variant and therefore have the rs2814778(G;G) genotype have the Fy(a-b-) phenotype. Also known as the Duffy null phenotype, Fy(a-b-) is very rare in Caucasians but is found in 68% of Blacks.

Duffy antigens have many significant clinical roles. Infection resistance, in particular to malaria, is the most noted, but there are important autoimmunity effects.