CD109

Chr 6

CD109 molecule

Also known as: CPAMD7, HPA-15, p180, r150

This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…
0
Active trials
40
Pubs (1 yr)
P/LP submissions
P/LP missense
1.19
LOEUF
Mechanism
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?
1.19LOEUF
pLI 0.000
Z-score 0.22
OE 0.97 (0.801.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.50Z-score
OE missense 1.05 (0.991.12)
755 obs / 717.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.97 (0.801.19)
00.351.4
Missense OE?1.05 (0.991.12)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 68 / 70.0Missense obs/exp: 755 / 717.1Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CD109 · 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 →