CD93

Chr 20

CD93 molecule

Also known as: C1QR1, C1qR(P), C1qRP, CDw93, ECSM3, MXRA4, dJ737E23.1

The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
58
Pubs (1 yr)
P/LP submissions
P/LP missense
1.24
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.74
OE 0.82 (0.561.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.35Z-score
OE missense 1.05 (0.971.14)
413 obs / 393.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.82 (0.561.24)
00.351.4
Missense OE?1.05 (0.971.14)
00.61.4
Synonymous OE?1.13
01.21.6
LoF obs/exp: 17 / 20.6Missense obs/exp: 413 / 393.4Syn Z: -1.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CD93 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →