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IGFBP2

Synonyms
IBP2, IGF-BP53
External resources
Summary
The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted 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
6
Likely pathogenic
0
VUS
5,091
Likely benign
463
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on IGFBP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
60%
Constitutional symptom
40%
Abnormality of blood and blood-forming tissues
20%
Abnormality of head or neck
20%
Abnormality of prenatal development or birth
20%
Abnormality of the digestive system
20%
Abnormality of the endocrine system
20%
Abnormality of the eye
20%
Abnormality of the musculoskeletal system
20%
Growth abnormality
20%
Neoplasm
20%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the nervous system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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