SLAMF8

Chr 1

SLAM family member 8

Also known as: BLAME, CD353, SBBI42

NCBI Gene: 56833ENSG00000158714UniProt: Q9P0V8

This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.19
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.000
Z-score 1.04
OE 0.70 (0.43–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.29Z-score
OE missense 1.06 (0.94–1.21)
172 obs / 161.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.43–1.19)
0≤0.351.4
Missense OE?1.06 (0.94–1.21)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 10 / 14.2Missense obs/exp: 172 / 161.7Syn Z: 0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLAMF8 · 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