F11R

Chr 1

F11 receptor

Also known as: CD321, JAM, JAM1, JAMA, JCAM, KAT, PAM-1

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
26
Pubs (1 yr)
P/LP submissions
P/LP missense
1.01
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.54
OE 0.60 (0.371.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.95Z-score
OE missense 0.80 (0.700.92)
141 obs / 176.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.371.01)
00.351.4
Missense OE?0.80 (0.700.92)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 10 / 16.8Missense obs/exp: 141 / 176.6Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

F11R · 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 →