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BIN1

Synonyms
AMPH2, AMPHL, CNM2, SH3P9
External resources
Summary
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described.

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
6
VUS
2,294
Likely benign
2,617
Benign
494

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on BIN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
54.5%
Abnormality of the nervous system
36.4%
Abnormality of the cardiovascular system
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of head or neck
9.1%
Abnormality of limbs
9.1%
Abnormality of the ear
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the musculoskeletal system
9.1%
Abnormality of the respiratory system
9.1%
Constitutional symptom
9.1%
Abnormal cellular phenotype
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 genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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