Home > Gene Browser > LILRB4

LILRB4

Synonyms
CD85K, ILT-3, ILT3, LIR-5, LIR5
External resources
Summary
This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
51
Likely pathogenic
0
VUS
22,627
Likely benign
2,135
Benign
0

Patient phenotypes

Proportions of phenotypes among 50 patients carring pathogenic or likely pathogenic variants on LILRB4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
22%
Abnormality of the eye
18%
Abnormality of the cardiovascular system
16%
Abnormality of head or neck
14%
Abnormality of the ear
12%
Abnormality of the immune system
12%
Growth abnormality
10%
Abnormality of the digestive system
6%
Abnormality of the genitourinary system
6%
Abnormality of the integument
6%
Abnormality of blood and blood-forming tissues
4%
Abnormal cellular phenotype
2%
Abnormality of prenatal development or birth
2%
Abnormality of the voice
2%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes