ACKR4

Chr 3

atypical chemokine receptor 4

Also known as: CC-CKR-11, CCBP2, CCR-11, CCR10, CCR11, CCRL1, CCX CKR, CCX-CKR

NCBI Gene: 51554 ENSG00000129048 UniProt: Q9NPB9 OMIM: 606065

The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.80

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.80LOEUF

pLI 0.000

Z-score -0.55

OE 1.19 (0.76–1.80)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.84Z-score

OE missense 0.82 (0.72–0.94)

147 obs / 178.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.19 (0.76–1.80)

0≤0.351.4

Missense OE?0.82 (0.72–0.94)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 12 / 10.1Missense obs/exp: 147 / 178.7Syn Z: 0.05

Background carrier burden — how many people carry a rare variant somewhere in ACKR4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

216 rare PASS variants

Rare truncating (LoF)

1 in 1,000

33 rare PASS variants

Rare synonymous (reference)

1 in 590

85 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ACKR4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 250	1 in 1,500
South Asian	~43k	1 in 170	1 in 390
Remaining (unassigned)	~30k	1 in 220	≈ 1 in 7,500
European (Finnish)	~27k	1 in 720	1 in 2,600
Admixed American	~22k	1 in 310	1 in 760
African / African American	~21k	1 in 160	1 in 790
East Asian	~20k	1 in 120	1 in 2,000
Ashkenazi Jewish	~13k	≈ 1 in 4,400	none seen
Middle Eastern	~2,881	1 in 180	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓