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MPZL2

Synonyms
DFNB111, EVA, EVA1
External resources
Summary
Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene.

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
208
Likely pathogenic
0
VUS
1,850
Likely benign
1,603
Benign
0

Patient phenotypes

Proportions of phenotypes among 206 patients carrying pathogenic or likely pathogenic variants on MPZL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
25.7%
Abnormality of the cardiovascular system
22.8%
Abnormality of the ear
19.4%
Abnormality of the musculoskeletal system
14.1%
Abnormality of head or neck
12.1%
Abnormality of the eye
9.7%
Abnormality of the genitourinary system
8.3%
Growth abnormality
6.8%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the digestive system
4.9%
Abnormality of the integument
4.9%
Abnormality of limbs
3.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the endocrine system
2.9%
Abnormality of the immune system
2.4%
Abnormality of the respiratory system
1.9%
Neoplasm
1.5%
Abnormal cellular phenotype
0.5%
Constitutional symptom
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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