CXCL13

Chr 4

C-X-C motif chemokine ligand 13

Also known as: ANGIE, ANGIE2, BCA-1, BCA1, BLC, BLR1L, SCYB13

B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
5
Active trials
476
Pubs (1 yr)
P/LP submissions
P/LP missense
0.52
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.826
Z-score 2.22
OE 0.00 (0.000.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.58Z-score
OE missense 0.79 (0.621.00)
46 obs / 58.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.52)
00.351.4
Missense OE?0.79 (0.621.00)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 0 / 5.8Missense obs/exp: 46 / 58.5Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CXCL13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.