Home > Gene Browser > SH3BP1

SH3BP1

Synonyms
ARHGAP43
External resources
Summary
This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues.

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
18
Likely pathogenic
3
VUS
9,085
Likely benign
447
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on SH3BP1 gene are displayed below. The following symptoms were found in patients with a variant in SH3BP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
31.3%
Abnormality of the musculoskeletal system
31.3%
Abnormality of the nervous system
31.3%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
18.8%
Abnormality of the genitourinary system
18.8%
Abnormality of the immune system
18.8%
Abnormality of metabolism homeostasis
12.5%
Abnormality of the ear
12.5%
Abnormality of the integument
12.5%
Growth abnormality
12.5%
Abnormality of blood and blood forming tissues
6.3%
Abnormality of prenatal development or birth
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the respiratory system
6.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.