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HTRA4

Synonyms
-
External resources
Summary
This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging.

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
0
VUS
3,299
Likely benign
2,536
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on HTRA4 gene are displayed below. The following symptoms were found in patients with a variant in HTRA4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
52.9%
Abnormality of the nervous system
29.4%
Abnormality of head or neck
17.6%
Abnormality of the genitourinary system
17.6%
Abnormality of the immune system
17.6%
Abnormality of the integument
17.6%
Abnormality of blood and blood forming tissues
11.8%
Abnormality of metabolism homeostasis
11.8%
Abnormality of prenatal development or birth
11.8%
Abnormality of the cardiovascular system
11.8%
Growth abnormality
11.8%
Abnormality of limbs
5.9%
Abnormality of the digestive system
5.9%
Abnormality of the ear
5.9%
Abnormality of the eye
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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