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MPZL2 myelin protein zero like 2 [ Homo sapiens (human) ]

Gene ID: 10205, updated on 2-Nov-2024

Summary

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Official Symbol
MPZL2provided by HGNC
Official Full Name
myelin protein zero like 2provided by HGNC
Primary source
HGNC:HGNC:3496
See related
Ensembl:ENSG00000149573 MIM:604873; AllianceGenome:HGNC:3496
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EVA; EVA1; DFNB111
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]
Expression
Broad expression in esophagus (RPKM 92.3), urinary bladder (RPKM 53.8) and 14 other tissues See more
Orthologs
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Genomic context

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See MPZL2 in Genome Data Viewer
Location:
11q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118253416..118264297, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118269772..118280653, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118124131..118135012, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene junction adhesion molecule like Neighboring gene Sharpr-MPRA regulatory region 10108 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 18 Neighboring gene myelin protein zero like 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118111758-118112957 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122400-118122961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122962-118123522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5587 Neighboring gene Sharpr-MPRA regulatory region 14251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5588 Neighboring gene CD3 epsilon subunit of T-cell receptor complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5589 Neighboring gene CD3 delta subunit of T-cell receptor complex

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111. Lo E, et al. Am J Med Genet A, 2024 May. PMID 38197511
  2. Characterization of epithelial V-like antigen in human choroid plexus epithelial cells: potential role in CNS immune surveillance. Wojcik E, et al. Neurosci Lett, 2011 May 16. PMID 21440040
  3. Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway. Ohtsu N, et al. Cancer Res, 2016 Jan 1. PMID 26677976
  4. Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway. Ni Q, et al. Cancer Sci, 2020 May. PMID 31997489, Free PMC Article
  5. A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. Amalou G, et al. Int J Pediatr Otorhinolaryngol, 2021 Jan. PMID 33234333

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
    Title: Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
  2. MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
    Title: MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
  3. MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
    Title: MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
  4. Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.
    Title: Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.
  5. A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
    Title: A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
  6. Epithelial V-like antigen 1 (EVA1) expression is increased in hepatocellular carcinoma (HCC) and is associated with a poor prognosis and recurrence in HCC patients. Overexpression of EVA1 promotes cell growth, invasion and migration in vitro. EVA1 is able to upregulate the expression of genes in the ERBB3-PI3K pathway. An increased level of AKT phosphorylation is detected in HCC cells after EVA1 overexpression.
    Title: Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway.
  7. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.
    Title: MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
  8. CLCA2 links junctional adhesion molecule EVA1, to cytosolic signaling proteins that modulate proliferation and differentiation.
    Title: CLCA2 Interactor EVA1 Is Required for Mammary Epithelial Cell Differentiation.
  9. Findings highlight Eva1 as a novel regulator of GIC function and also provide new mechanistic insight into the role of noncanonical NF-kappaB activation in GIC.
    Title: Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway.
  10. EVA is expressed in human choroid plexus epithelial cells and CD4 T lymphocytes and regulates CD4+ T lymphocyte adhesion to human choroid plexus epithelial cells in vitro. These data suggest a novel mechanism to regulate CNS immune surveillance.
    Title: Characterization of epithelial V-like antigen in human choroid plexus epithelial cells: potential role in CNS immune surveillance.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hearing loss, autosomal recessive 111
MedGen: C4748374 OMIM: 618145 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
myelin protein zero-like protein 2
Names
epithelial V-like antigen 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005797.4 → NP_005788.1  myelin protein zero-like protein 2 precursor

    See identical proteins and their annotated locations for NP_005788.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AF275945, AW073724, DA163069
    Consensus CDS
    CCDS8393.1
    UniProtKB/Swiss-Prot
    A8K2R1, O60487
    Related
    ENSP00000278937.2, ENST00000278937.7
    Conserved Domains (1) summary
    cd05880
    Location:27 → 142
    IgV_EVA1; Immunoglobulin (Ig)-like domain of epithelial V-like antigen (EVA) 1

  2. NM_144765.3 → NP_658911.1  myelin protein zero-like protein 2 precursor

    See identical proteins and their annotated locations for NP_658911.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1 and is the shorter transcript.
    Source sequence(s)
    BC017774, DA163069
    Consensus CDS
    CCDS8393.1
    UniProtKB/Swiss-Prot
    A8K2R1, O60487
    Related
    ENSP00000408362.2, ENST00000438295.2
    Conserved Domains (1) summary
    cd05880
    Location:27 → 142
    IgV_EVA1; Immunoglobulin (Ig)-like domain of epithelial V-like antigen (EVA) 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    118253416..118264297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426229.1 → XP_047282185.1  myelin protein zero-like protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    118269772..118280653 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367432.1 → XP_054223407.1  myelin protein zero-like protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60487.1 GenPept UniProtKB/Swiss-Prot:O60487

Gene LinkOut

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