ACKR3

Chr 2AR

atypical chemokine receptor 3

Also known as: CMKOR1, CXC-R7, CXCR-7, CXCR7, GPR159, RDC-1, RDC1

NCBI Gene: 57007 ENSG00000144476 UniProt: P25106 OMIM: 610376

ACKR3 encodes an atypical chemokine receptor that regulates chemokine levels through high-affinity binding and internalization, and controls axon guidance in the oculomotor system by regulating CXCL12 levels. Mutations cause oculomotor-abducens synkinesis with autosomal recessive inheritance. This gene has moderate constraint against loss-of-function variants (LOEUF 0.68).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Oculomotor-abducens synkinesisMIM #619215

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.68

LOEUF

Multiple*

Mechanism· predicted