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SIGLEC5

Synonyms
CD170, CD33L2, OB-BP2, OBBP2, SIGLEC-5
External resources
Summary
This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion.

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
70
Likely pathogenic
46
VUS
15,934
Likely benign
8,657
Benign
0

Patient phenotypes

Proportions of phenotypes among 108 patients carring pathogenic or likely pathogenic variants on SIGLEC5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.4%
Abnormality of the eye
29.6%
Abnormality of the musculoskeletal system
21.3%
Abnormality of the cardiovascular system
16.7%
Abnormality of head or neck
14.8%
Abnormality of the ear
14.8%
Abnormality of the digestive system
12%
Neoplasm
10.2%
Abnormality of limbs
7.4%
Abnormality of the endocrine system
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the integument
5.6%
Growth abnormality
5.6%
Abnormality of the immune system
2.8%
Abnormality of prenatal development or birth
1.9%
Abnormality of the respiratory system
1.9%
Constitutional symptom
1.9%
Abnormal cellular phenotype
0.9%
Abnormality of blood and blood-forming tissues
0.9%
Abnormality of the voice
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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