Home > Gene Browser > UNC13B
UNC13B
- Synonyms
- MUNC13, UNC13, Unc13h2, munc13-2
- External resources
- NCBI10497
- OMIM605836
- EnsemblENSG00000198722
- HGNCHGNC:12566
- Summary
- This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis.
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
- 0
- Likely pathogenic
- 1
- VUS
- 6,830
- Likely benign
- 7,057
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 1 patients carrying pathogenic or likely pathogenic variants on UNC13B gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of blood and blood-forming tissues
- 100%
- Abnormality of the cardiovascular system
- 100%
- Abnormality of the nervous system
- 100%
- Abnormal cellular phenotype
- 0%
- Abnormality of head or neck
- 0%
- Abnormality of limbs
- 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 ear
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the eye
- 0%
- Abnormality of the genitourinary system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the integument
- 0%
- Abnormality of the musculoskeletal system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Growth abnormality
- 0%
- Neoplasm
- 0%
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