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ERBB2

Synonyms
CD340, HER-2, HER-2/neu, HER2, MLN 19, NEU, NGL, TKR1, VSCN2
External resources
Summary
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
18
Likely pathogenic
2
VUS
13,381
Likely benign
905
Benign
439

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on ERBB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
45%
Abnormality of the cardiovascular system
15%
Abnormality of the ear
15%
Abnormality of the nervous system
15%
Abnormality of the genitourinary system
10%
Abnormality of the musculoskeletal system
10%
Abnormality of blood and blood-forming tissues
5%
Abnormality of limbs
5%
Abnormality of the immune system
5%
Abnormality of the integument
5%
Constitutional symptom
5%
Growth abnormality
5%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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