SLAMF6

Chr 1

SLAM family member 6

Also known as: CD352, KALI, KALIb, Ly108, NTB-A, NTBA, SF2000

NCBI Gene: 114836ENSG00000162739UniProt: Q96DU3OMIM: 606446

The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…

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.
1
Active trials
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Pubs (1 yr)
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P/LP submissions
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P/LP missense
0.68
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.019
Z-score 2.54
OE 0.34 (0.19–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.57Z-score
OE missense 0.88 (0.77–1.00)
148 obs / 168.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.19–0.68)
0≤0.351.4
Missense OE?0.88 (0.77–1.00)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 6 / 17.4Missense obs/exp: 148 / 168.9Syn Z: 0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLAMF6 · protein map & ClinVar variants

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

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