MPZL2 Chromosome 11
Myelin protein zero like 2
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What This Gene Does
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]
Gene Info
Gene Group
"V-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000149573
Associated Conditions (7)
MPZL2-related disorder
Hearing loss
autosomal recessive 111
Clear cell carcinoma of kidney
Colon adenocarcinoma
Inborn genetic diseases
autosomal recessive
Key Variants
RS74543584
Conflicting classifications of pathogenicity
MPZL2-related disorder, Hearing loss, autosomal recessive 111
Health Risk
RS773599467
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145401372
Likely pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS1949708829
Likely pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS200462584
Likely pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS2134734280
Likely pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS748685997
Likely pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS751117377
Likely pathogenic
Health Risk
RS775609064
Likely pathogenic
MPZL2-related disorder, MPZL2-related disorder
Health Risk
RS777960413
Likely pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS146689036
Pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
RS746218761
Pathogenic
Hearing loss, autosomal recessive 111, Hearing loss
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS74543584 | Health Risk | Conflicting classifications of pathogenicity | MPZL2-related disorder, Hearing loss, autosomal recessive 111 |
| RS773599467 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145401372 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS1949708829 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS200462584 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS2134734280 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS748685997 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS751117377 | Health Risk | Likely pathogenic | — |
| RS775609064 | Health Risk | Likely pathogenic | MPZL2-related disorder, MPZL2-related disorder |
| RS777960413 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS146689036 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS746218761 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS759432278 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS1167608859 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 111, Hearing loss |
| RS746414669 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS752672077 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 111, MPZL2-related disorder |