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PPFIA2

Synonyms
-
External resources
Summary
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants.

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
27
Likely pathogenic
456
VUS
14,249
Likely benign
5,877
Benign
0

Patient phenotypes

Proportions of phenotypes among 479 patients carrying pathogenic or likely pathogenic variants on PPFIA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the eye
23.6%
Abnormality of head or neck
21.3%
Abnormality of the cardiovascular system
19%
Growth abnormality
14.8%
Abnormality of the ear
14%
Abnormality of limbs
12.5%
Abnormality of the genitourinary system
10.4%
Abnormality of the integument
10%
Abnormality of the digestive system
7.7%
Abnormality of the immune system
5.8%
Abnormality of the endocrine system
5.4%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the respiratory system
2.7%
Neoplasm
2.7%
Abnormality of prenatal development or birth
2.1%
Constitutional symptom
1.5%
Abnormality of the breast
1.3%
Abnormal cellular phenotype
0.2%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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