CXCL11

Chr 4

C-X-C motif chemokine ligand 11

Also known as: H174, I-TAC, IP-9, IP9, SCYB11, SCYB9B, b-R1

NCBI Gene: 6373 ENSG00000169248 UniProt: O14625

The protein encoded by this gene is a chemokine that recruits activated T-cells through binding to the CXCR3 receptor and plays a role in central nervous system immune responses. Currently, no Mendelian diseases have been definitively associated with mutations in CXCL11 in pediatric populations. The gene shows tolerance to loss-of-function variants (pLI 0.31, LOEUF 1.14), suggesting haploinsufficiency is unlikely to cause severe developmental phenotypes.

ResearchSummary from RefSeq, UniProt

Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

ResearchGenerating 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.

Active trials

257

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429