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HTRA2

Synonyms
MGCA8, OMI, PARK13, PRSS25
External resources
Summary
This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms.

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
0
VUS
4,825
Likely benign
1,050
Benign
545

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on HTRA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
25%
Abnormality of head or neck
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of limbs
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the ear
6.3%
Growth abnormality
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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