CD84

Chr 1

CD84 molecule

Also known as: LY9B, SLAMF5, hCD84, mCD84

NCBI Gene: 8832ENSG00000066294UniProt: Q9UIB8

This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…
2
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.32
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?
1.32LOEUF
pLI 0.000
Z-score 0.59
OE 0.84 (0.56–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.96 (0.85–1.08)
184 obs / 192.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.56–1.32)
0≤0.351.4
Missense OE?0.96 (0.85–1.08)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 14 / 16.6Missense obs/exp: 184 / 192.4Syn Z: -0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CD84 · 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