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CAPN9

Synonyms
GC36, nCL-4
External resources
Summary
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different 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
37
Likely pathogenic
0
VUS
4,660
Likely benign
4,700
Benign
4,841

Patient phenotypes

Proportions of phenotypes among 37 patients carring pathogenic or likely pathogenic variants on CAPN9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.5%
Abnormality of the eye
35.1%
Abnormality of the musculoskeletal system
27%
Abnormality of limbs
16.2%
Abnormality of head or neck
13.5%
Abnormality of the cardiovascular system
10.8%
Abnormality of the immune system
10.8%
Growth abnormality
10.8%
Abnormality of the ear
8.1%
Abnormality of the integument
8.1%
Abnormality of blood and blood-forming tissues
5.4%
Abnormality of the digestive system
5.4%
Constitutional symptom
5.4%
Abnormal cellular phenotype
2.7%
Abnormality of the breast
2.7%
Abnormality of the endocrine system
2.7%
Abnormality of the genitourinary system
2.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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