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IGFBP3

Synonyms
BP-53, IBP3
External resources
Summary
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

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
10
Likely pathogenic
0
VUS
3,330
Likely benign
111
Benign
0

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on IGFBP3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
33.3%
Growth abnormality
33.3%
Abnormality of prenatal development or birth
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the immune system
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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