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PRRG2

Synonyms
PRGP2
External resources
Summary
The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two 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
25
Likely pathogenic
1
VUS
1,528
Likely benign
1,148
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on PRRG2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.3%
Abnormality of the musculoskeletal system
34.6%
Abnormality of head or neck
26.9%
Abnormality of limbs
19.2%
Growth abnormality
19.2%
Abnormality of the cardiovascular system
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of the integument
15.4%
Abnormality of the ear
11.5%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the eye
7.7%
Abnormality of prenatal development or birth
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the immune system
3.8%
Abnormality of the respiratory system
3.8%
Neoplasm
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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