ACKR3 Chromosome 2
Atypical chemokine receptor 3
Upload your DNA to see your personal genotypes for variants in ACKR3.
What This Gene Does
This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Atypical chemokine receptors
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000144476
Associated Conditions (1)
Oculomotor-abducens synkinesis
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114269199 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200582844 | Health Risk | Pathogenic | Oculomotor-abducens synkinesis, Oculomotor-abducens synkinesis |