CD244

Chr 1

CD244 molecule

Also known as: 2B4, NAIL, NKR2B4, Nmrk, SLAMF4

NCBI Gene: 51744ENSG00000122223UniProt: Q9BZW8OMIM: 605554

This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Rheumatoid arthritis, susceptibility to}MIM #180300

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.
0
Active trials
53
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.057
Z-score 2.97
OE 0.29 (0.16–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.30Z-score
OE missense 0.94 (0.83–1.06)
179 obs / 190.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.29 (0.16–0.58)
0≤0.351.4
Missense OE?0.94 (0.83–1.06)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 6 / 20.5Missense obs/exp: 179 / 190.7Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CD244 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients