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FLASH GENE
Symbol MPZL2 contributors: mct - updated : 31-08-2018
HGNC name myelin protein zero-like 2
HGNC id 3496
Corresponding disease
DFNB75 neurosensory deafness 75
Location 11q23.3      Physical location : 118.124.132 - 118.135.251
Synonym name epithelial V-like antigen 1
Synonym symbol(s) EVA1, EVA
DNA
TYPE functioning gene
STRUCTURE 11.12 kb     6 Exon(s)
MAPPING cloned Y linked   status provisional
Map cen - D11S939 - EVA1 - D11S1356 - IL10RA - FXYD2 - D11S4104 - RPS25 - D11S924 - qter
Authors Gene Map (98),LDB (99)
RNA
TRANSCRIPTS type messenger
text Two transcript variants encoding the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2871 24.5 215 - 2016 26677976
5 - 1396 - 215 - 2016 26677976
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly Homo sapiensFetal
Lymphoid/Immunethymus   highly Homo sapiensAdult
Nervousplexus choroid   highly Homo sapiens
Respiratorylung   highly Homo sapiensAdult
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/ImmuneT cell Homo sapiens
Nervousepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text pregnancy, embryo, thymus and several epithelial structures during early embryogenesis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a characteristic V-type domain
  • 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
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to MPZ
    Homologene
    FAMILY
  • Ig superfamily
  • CATEGORY adhesion , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • potentially involved as homotypic adhesion molecule in thymus histogenesis
  • CD3-binding immunoglobulin-like protein, regulates embryonic thymic development
  • modulation of MPZL2 expression in thymocytes is crucial for lymphocyte physiological developmental progression and stromal differentiation
  • immunoglobulin-like adhesion molecule, playing a role in structural organisation of the thymus and early lymphocyte development
  • lysosome and endoplasmic reticulum-associated protein involved in autophagy and apoptosis
  • MPZL2- induced autophagy and apoptosis play a role in suppressing the development of glioblastoma (GBM)
  • adhesion molecule that mediates epithelial cell-cell interactions in several (developing) tissues
  • has likely a unique function in the inner ear
  • MPZL2 function is essential only in the inner ear and functional redundancy might well prohibit phenotypic effects in other tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulates permeability of the blood-CSF barrier
  • like CLCA2, MPZL2 is a type I transmembrane protein that is regulated by TP53 and TP63
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB75
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    frequently downregulated in breast tumors and breast cancer cell lines, especially those of mesenchymal phenotype
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS