MPZL2

myelin protein zero like 2

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. [provided by RefSeq, Jul 2008]

Known Variants34 total

rsidPosition (GRCh37)AllelesClassClinVar
rs249677131711:118,127,963T/G—likely benign
rs20182113011:118,127,983A/G—likely benign
rs74615048011:118,128,010G/A—likely benign
rs249677152811:118,128,013C/G—uncertain significance
rs19977356411:118,130,808C/T—uncertain significance
rs20046258411:118,130,809G/A—likely pathogenic
rs249677621911:118,130,841A/G—uncertain significance
rs249677639711:118,130,880A/G—uncertain significance
rs55749384211:118,130,914G/A—uncertain significance
rs1712199711:118,131,049T/C—benign
rs1182465311:118,131,142A/G—benign
rs125040704111:118,133,162C/G—uncertain significance
rs37092574311:118,133,166G/A—likely benign
rs7548591411:118,133,173C/T—benign
rs77359946711:118,133,203G/C—conflicting classifications of pathogenicity
rs14967802811:118,133,244G/A—likely benign
rs137286780011:118,133,247C/A—uncertain significance
rs75111737711:118,133,249G/A—likely pathogenic
rs20150629511:118,133,258A/G—uncertain significance
rs77560906411:118,133,299C/T—likely pathogenic
rs14540137211:118,133,309G/A—likely pathogenic
rs7454358411:118,133,311T/A—conflicting classifications of pathogenicity
rs14509880211:118,133,333G/A—uncertain significance
rs1712200211:118,133,334T/C—benign
rs194970882911:118,133,364C/T—likely pathogenic
rs74641466911:118,133,365T/A—pathogenic
rs14668903611:118,133,651G/A—pathogenic
rs18459862911:118,133,659C/T—uncertain significance
rs15020385711:118,133,773C/T—uncertain significance
rs162478011:118,134,785G/T—benign
rs3604075811:118,134,830G/A—likely benign
rs75471611911:118,134,842C/T—likely benign
rs74868599711:118,134,866C/A—likely pathogenic
rs375900011:118,135,449C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.