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CLEC2B

Synonyms
AICL, CLECSF2, HP10085, IFNRG1
External resources
Summary
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region.

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
3
Likely pathogenic
0
VUS
347
Likely benign
4
Benign
0

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on CLEC2B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
100%
Abnormality of limbs
100%
Abnormality of the musculoskeletal system
100%
Abnormality of the integument
66.7%
Abnormality of the nervous system
66.7%
Abnormality of the digestive system
33.3%
Abnormality of the ear
33.3%
Abnormality of the genitourinary system
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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