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 ... See more...

Aliases for MPZL2 Gene

Aliases for MPZL2 Gene

  • Myelin Protein Zero Like 2 2 3 5
  • Epithelial V-Like Antigen 1 2 3 4
  • EVA 2 3 4
  • Myelin Protein Zero-Like Protein 2 3 4
  • EVA1 3 4
  • DFNB111 3
  • MPZL2 5

External Ids for MPZL2 Gene

Previous HGNC Symbols for MPZL2 Gene

  • EVA1

Previous GeneCards Identifiers for MPZL2 Gene

  • GC11M117630
  • GC11M118124
  • GC11M114057

Summaries for MPZL2 Gene

Entrez Gene Summary for MPZL2 Gene

  • 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]

GeneCards Summary for MPZL2 Gene

MPZL2 (Myelin Protein Zero Like 2) is a Protein Coding gene. Diseases associated with MPZL2 include Deafness, Autosomal Recessive 111 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Differentiation of white and brown adipocyte. An important paralog of this gene is MPZL3.

UniProtKB/Swiss-Prot Summary for MPZL2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPZL2 Gene

Genomics for MPZL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MPZL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J118262 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -0.2 -206 5.2 KLF9 POLR2A YY1 CEBPB ZNF341 HOMEZ MAX ZNF217 KMT2B SMAD4 ENSG00000280032 MPZL2 lnc-CD3E-1 lnc-MPZL3-3 MPZL3 ENSG00000271751 CD3E RF00017-947
GH11J118251 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.5 +12.5 12534 2.8 ZNF207 SSRP1 JUND ZNF580 ATF2 POLR2A BRCA1 NFIC CHD4 YY1 MPZL3 HSALNG0087514 HINFP VPS11 CENATAC KMT2A CEP164 SCN2B MPZL2 BACE1
GH11J118210 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 5.5 +50.6 50564 7.2 BCLAF1 ZMYM3 CEBPA CHD4 YY1 MXD4 BCL11A CEBPB TRIM22 HOMEZ JAML MPZL3 CD3D CD3G CD3E MPZL2 HSPE1P18 SCN2B
GH11J118238 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.5 +23.7 23737 4.6 ZNF207 ZNF600 MYC NCOR1 IKZF1 JUND ATF3 NFIC YY1 ZNF217 JAML MPZL3 CD3E IL10RA SCN2B MPZL2 CD3G UBE4A CD3D piR-57133-094
GH11J118223 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 5.4 +38.0 38037 7.8 BCLAF1 SP1 BCL11A REST TRIM22 MNT IRF4 EBF1 CBFB SMARCA5 JAML piR-53430 MPZL3 SCN2B MPZL2 lnc-JAML-1 piR-33689
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPZL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPZL2

Top Transcription factor binding sites by QIAGEN in the MPZL2 gene promoter:
  • AhR
  • Arnt
  • c-Myb
  • GCNF
  • GCNF-1
  • GCNF-2
  • GR
  • LCR-F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MPZL2 Gene

Latest Assembly
chr11:118,253,416-118,264,536
(GRCh38/hg38)
Size:
11,121 bases
Orientation:
Minus strand

Previous Assembly
chr11:118,124,131-118,135,012
(GRCh37/hg19 by Entrez Gene)
Size:
10,882 bases
Orientation:
Minus strand

chr11:118,124,118-118,135,251
(GRCh37/hg19 by Ensembl)
Size:
11,134 bases
Orientation:
Minus strand

Genomic View for MPZL2 Gene

Genes around MPZL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPZL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPZL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPZL2 Gene

Proteins for MPZL2 Gene

  • Protein details for MPZL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60487-MPZL2_HUMAN
    Recommended name:
    Myelin protein zero-like protein 2
    Protein Accession:
    O60487
    Secondary Accessions:
    • A8K2R1

    Protein attributes for MPZL2 Gene

    Size:
    215 amino acids
    Molecular mass:
    24484 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MPZL2 Gene

Post-translational modifications for MPZL2 Gene

  • Glycosylation at Asn39 and Asn118
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MPZL2_HUMAN (1528)

Other Protein References for MPZL2 Gene

No data available for DME Specific Peptides for MPZL2 Gene

Domains & Families for MPZL2 Gene

Gene Families for MPZL2 Gene

Protein Domains for MPZL2 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin V-type

Suggested Antigen Peptide Sequences for MPZL2 Gene

GenScript: Design optimal peptide antigens:
  • Epithelial V-like antigen 1 (MPZL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60487

UniProtKB/Swiss-Prot:

MPZL2_HUMAN :
  • Belongs to the myelin P0 protein family.
Family:
  • Belongs to the myelin P0 protein family.
genes like me logo Genes that share domains with MPZL2: view

Function for MPZL2 Gene

Molecular function for MPZL2 Gene

UniProtKB/Swiss-Prot Function:
Mediates homophilic cell-cell adhesion.

Phenotypes From GWAS Catalog for MPZL2 Gene

Gene Ontology (GO) - Molecular Function for MPZL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21982860
genes like me logo Genes that share ontologies with MPZL2: view
genes like me logo Genes that share phenotypes with MPZL2: view

Human Phenotype Ontology for MPZL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPZL2 Gene

MGI Knock Outs for MPZL2:
  • Mpzl2 Mpzl2<tm1b(EUCOMM)Hmgu>
  • Mpzl2 Mpzl2<tm1Lex>

Animal Models for research

  • Taconic Biosciences Mouse Models for MPZL2

miRNA for MPZL2 Gene

miRTarBase miRNAs that target MPZL2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPZL2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MPZL2 Gene

Localization for MPZL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPZL2 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPZL2 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 3
extracellular 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPZL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton TAS 9585423
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPZL2: view

Pathways & Interactions for MPZL2 Gene

PathCards logo

SuperPathways for MPZL2 Gene

genes like me logo Genes that share pathways with MPZL2: view

Pathways by source for MPZL2 Gene

1 BioSystems pathway for MPZL2 Gene

Gene Ontology (GO) - Biological Process for MPZL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules TAS 9585423
GO:0009653 anatomical structure morphogenesis TAS 9585423
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with MPZL2: view

No data available for SIGNOR curated interactions for MPZL2 Gene

Drugs & Compounds for MPZL2 Gene

No Compound Related Data Available

Transcripts for MPZL2 Gene

mRNA/cDNA for MPZL2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPZL2

Alternative Splicing Database (ASD) splice patterns (SP) for MPZL2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: -
SP6: -
SP7: -
SP8: -

Relevant External Links for MPZL2 Gene

GeneLoc Exon Structure for
MPZL2

Expression for MPZL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MPZL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPZL2 Gene

This gene is overexpressed in Esophagus - Mucosa (x10.9) and Vagina (x5.6).

Protein differential expression in normal tissues from HIPED for MPZL2 Gene

This gene is overexpressed in Nasal epithelium (66.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MPZL2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPZL2

SOURCE GeneReport for Unigene cluster for MPZL2 Gene:

Hs.116651

mRNA Expression by UniProt/SwissProt for MPZL2 Gene:

O60487-MPZL2_HUMAN
Tissue specificity: Widely expressed. In fetal tissues, highest expression in the inner ear. In adult tissues, highest levels in thymus and lung.

Evidence on tissue expression from TISSUES for MPZL2 Gene

  • Lung(4.6)
  • Liver(4.4)
  • Spleen(4.1)
  • Nervous system(2.9)
  • Skin(2.4)
  • Pancreas(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MPZL2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPZL2 Gene

Orthologs for MPZL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPZL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MPZL2 29 30
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MPZL2 29 30
  • 89.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MPZL2 29 30
  • 89.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mpzl2 29 16 30
  • 84.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mpzl2 29
  • 83.72 (n)
Oppossum
(Monodelphis domestica)
Mammalia MPZL2 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MPZL2 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MPZL2 29 30
  • 64.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MPZL2 30
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mpzl2 29
  • 56.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100534682 29
  • 51.99 (n)
MPZL2 (2 of 2) 30
  • 38 (a)
OneToMany
mpzl2b 30
  • 38 (a)
OneToMany
Species where no ortholog for MPZL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MPZL2 Gene

ENSEMBL:
Gene Tree for MPZL2 (if available)
TreeFam:
Gene Tree for MPZL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPZL2: view image
Alliance of Genome Resources:
Additional Orthologs for MPZL2

Paralogs for MPZL2 Gene

Paralogs for MPZL2 Gene

(5) SIMAP similar genes for MPZL2 Gene using alignment to 1 proteins:

  • MPZL2_HUMAN
genes like me logo Genes that share paralogs with MPZL2: view

Variants for MPZL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPZL2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
993009 Likely Pathogenic: Deafness, autosomal recessive 111 118,262,649(-) C/T
NM_005797.4(MPZL2):c.226-1G>A
SPLICE_ACCEPTOR
rs146689036 Pathogenic: Deafness, autosomal recessive 111 118,262,936(-) G/A
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)
NONSENSE
rs36040758 Benign: not provided 118,264,115(-) G/A
NM_005797.4(MPZL2):c.39C>T (p.Leu13=)
SYNONYMOUS
rs752672077 Pathogenic: Deafness, autosomal recessive 111; not provided 118,263,083(-) CT/C
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
FRAMESHIFT
rs759432278 Pathogenic: Deafness, autosomal recessive 111 118,260,174(-) GC/G
NM_005797.4(MPZL2):c.463del (p.Ala155fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MPZL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for MPZL2 Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPZL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPZL2
Leiden Open Variation Database (LOVD)
MPZL2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MPZL2 Gene

Disorders for MPZL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MPZL2 Gene - From: OMI, CVR, GTR, ORP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 111
  • dfnb111
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search MPZL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPZL2_HUMAN
  • Deafness, autosomal recessive, 111 (DFNB111) [MIM:618145]: A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:29961571, ECO:0000269 PubMed:29982980}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MPZL2

genes like me logo Genes that share disorders with MPZL2: view

No data available for Genatlas for MPZL2 Gene

Publications for MPZL2 Gene

  1. Epithelial V-like antigen (EVA), a novel member of the immunoglobulin superfamily, expressed in embryonic epithelia with a potential role as homotypic adhesion molecule in thymus histogenesis. (PMID: 9585423) Guttinger M … Grassi F (The Journal of cell biology 1998) 2 3 4
  2. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. (PMID: 29982980) Bademci G … Tekin M (Human genetics 2018) 3 4
  3. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. (PMID: 29961571) Wesdorp M … Kremer H (American journal of human genetics 2018) 4 72
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for MPZL2 Gene

Sources for MPZL2 Gene