Aliases for MPZL3 Gene

Aliases for MPZL3 Gene

  • Myelin Protein Zero Like 3 2 3 5
  • Myelin Protein Zero-Like Protein 3 3 4
  • MPZL3 5

External Ids for MPZL3 Gene

Previous GeneCards Identifiers for MPZL3 Gene

  • GC11M117604
  • GC11M118097
  • GC11M114033

Summaries for MPZL3 Gene

GeneCards Summary for MPZL3 Gene

MPZL3 (Myelin Protein Zero Like 3) is a Protein Coding gene. Diseases associated with MPZL3 include Seborrheic Dermatitis and Tibial Muscular Dystrophy. An important paralog of this gene is MPZL2.

UniProtKB/Swiss-Prot Summary for MPZL3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPZL3 Gene

Genomics for MPZL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MPZL3 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
GH11J118251 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 271.3 +0.4 363 2.8 ZNF207 SSRP1 JUND ZNF580 ATF2 POLR2A BRCA1 NFIC CHD4 YY1 MPZL3 HSALNG0087514 HINFP VPS11 CENATAC KMT2A CEP164 SCN2B MPZL2 BACE1
GH11J118238 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25.5 +11.6 11566 4.6 ZNF207 ZNF600 MYC NCOR1 IKZF1 JUND ATF3 NFIC YY1 ZNF217 JAML MPZL3 CD3E IL10RA SCN2B MPZL2 CD3G UBE4A CD3D piR-57133-094
GH11J118262 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.4 -12.4 -12377 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
GH11J118223 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 21.5 +25.9 25866 7.8 BCLAF1 SP1 BCL11A REST TRIM22 MNT IRF4 EBF1 CBFB SMARCA5 JAML piR-53430 MPZL3 SCN2B MPZL2 lnc-JAML-1 piR-33689
GH11J118210 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 17.8 +38.4 38393 7.2 BCLAF1 ZMYM3 CEBPA CHD4 YY1 MXD4 BCL11A CEBPB TRIM22 HOMEZ JAML MPZL3 CD3D CD3G CD3E MPZL2 HSPE1P18 SCN2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPZL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPZL3

Top Transcription factor binding sites by QIAGEN in the MPZL3 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • c-Myb
  • GCNF
  • GCNF-1
  • GCNF-2
  • Pax-6
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MPZL3 Gene

Latest Assembly
chr11:118,226,690-118,252,365
(GRCh38/hg38)
Size:
25,676 bases
Orientation:
Minus strand

Previous Assembly
chr11:118,097,405-118,123,080
(GRCh37/hg19 by Entrez Gene)
Size:
25,676 bases
Orientation:
Minus strand

chr11:118,097,409-118,123,065
(GRCh37/hg19 by Ensembl)
Size:
25,657 bases
Orientation:
Minus strand

Genomic View for MPZL3 Gene

Genes around MPZL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPZL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPZL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPZL3 Gene

Proteins for MPZL3 Gene

  • Protein details for MPZL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWV2-MPZL3_HUMAN
    Recommended name:
    Myelin protein zero-like protein 3
    Protein Accession:
    Q6UWV2
    Secondary Accessions:
    • A8K025
    • B4DLD5
    • B4E2I8

    Protein attributes for MPZL3 Gene

    Size:
    235 amino acids
    Molecular mass:
    25989 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MPZL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPZL3 Gene

Post-translational modifications for MPZL3 Gene

  • Glycosylation at Asn123
  • Modification sites at PhosphoSitePlus

Other Protein References for MPZL3 Gene

No data available for DME Specific Peptides for MPZL3 Gene

Domains & Families for MPZL3 Gene

Gene Families for MPZL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MPZL3 Gene

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

Suggested Antigen Peptide Sequences for MPZL3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78100 (A8K025_HUMAN)
  • cDNA FLJ51640 (B4DLD5_HUMAN)
  • cDNA FLJ53130 (B4E2I8_HUMAN)
  • Myelin protein zero-like protein 3 (MPZL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UWV2

UniProtKB/Swiss-Prot:

MPZL3_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 MPZL3: view

Function for MPZL3 Gene

Molecular function for MPZL3 Gene

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

Phenotypes From GWAS Catalog for MPZL3 Gene

Gene Ontology (GO) - Molecular Function for MPZL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21982860
genes like me logo Genes that share ontologies with MPZL3: view
genes like me logo Genes that share phenotypes with MPZL3: view

Animal Models for MPZL3 Gene

MGI Knock Outs for MPZL3:

Animal Models for research

  • Taconic Biosciences Mouse Models for MPZL3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPZL3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MPZL3 Gene

Localization for MPZL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPZL3 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 MPZL3 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPZL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPZL3: view

Pathways & Interactions for MPZL3 Gene

PathCards logo

SuperPathways for MPZL3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPZL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0042633 hair cycle IEA --
genes like me logo Genes that share ontologies with MPZL3: view

No data available for Pathways by source and SIGNOR curated interactions for MPZL3 Gene

Drugs & Compounds for MPZL3 Gene

No Compound Related Data Available

Transcripts for MPZL3 Gene

mRNA/cDNA for MPZL3 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 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 MPZL3

Alternative Splicing Database (ASD) splice patterns (SP) for MPZL3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: - - -

Relevant External Links for MPZL3 Gene

GeneLoc Exon Structure for
MPZL3

Expression for MPZL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MPZL3 Gene

mRNA differential expression in normal tissues according to GTEx for MPZL3 Gene

This gene is overexpressed in Whole Blood (x9.8), Esophagus - Mucosa (x5.9), Skin - Not Sun Exposed (Suprapubic) (x5.5), and Skin - Sun Exposed (Lower leg) (x5.4).

Protein differential expression in normal tissues from HIPED for MPZL3 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MPZL3 Gene



Protein tissue co-expression partners for MPZL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPZL3

SOURCE GeneReport for Unigene cluster for MPZL3 Gene:

Hs.15396

Evidence on tissue expression from TISSUES for MPZL3 Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with MPZL3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPZL3 Gene

Orthologs for MPZL3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPZL3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MPZL3 29 30
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MPZL3 29 30
  • 89.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MPZL3 29 30
  • 87.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mpzl3 29 16 30
  • 85.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mpzl3 29
  • 84.54 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MPZL3 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MPZL3 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MPZL3 29 30
  • 62.62 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mpzl3 29
  • 55.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii mpzl3 30
  • 29 (a)
OneToOne
Species where no ortholog for MPZL3 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)
  • Lizard (Anolis carolinensis)
  • 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 MPZL3 Gene

ENSEMBL:
Gene Tree for MPZL3 (if available)
TreeFam:
Gene Tree for MPZL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPZL3: view image
Alliance of Genome Resources:
Additional Orthologs for MPZL3

Paralogs for MPZL3 Gene

Paralogs for MPZL3 Gene

(4) SIMAP similar genes for MPZL3 Gene using alignment to 4 proteins:

  • MPZL3_HUMAN
  • B4DLD5_HUMAN
  • B4E2I8_HUMAN
  • E9PPB1_HUMAN
genes like me logo Genes that share paralogs with MPZL3: view

Variants for MPZL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPZL3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs144871575 Benign: not provided 118,233,495(-) TAC/T
NM_198275.3(MPZL3):c.642_643GT[1] (p.Cys215fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs17121966 Benign: not provided 118,235,578(-) T/Cp.Met155Val
NM_198275.3(MPZL3):c.463A>G (p.Met155Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs34507994 Benign: not provided 118,235,527(-) C/Tp.Val172Met
NM_198275.3(MPZL3):c.514G>A (p.Val172Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs36102742 -- p.Val168Gly
rs7105729 -- p.Asp228Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MPZL3 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for MPZL3 Gene

Variant ID Type Subtype PubMed ID
nsv511 CNV insertion 18451855
nsv952742 CNV duplication 24416366

Variation tolerance for MPZL3 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.18; 69.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPZL3 Gene

Human Gene Mutation Database (HGMD)
MPZL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPZL3
Leiden Open Variation Database (LOVD)
MPZL3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPZL3 Gene

Disorders for MPZL3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MPZL3 Gene - From: COP

Disorder Aliases PubMed IDs
seborrheic dermatitis
  • seborrhea
tibial muscular dystrophy
  • distal titinopathy
- elite association - COSMIC cancer census association via MalaCards
Search MPZL3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPZL3

genes like me logo Genes that share disorders with MPZL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPZL3 Gene

Publications for MPZL3 Gene

  1. Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities. (PMID: 17273165) Cao T … Csiszar K (The Journal of investigative dermatology 2007) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 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 MPZL3 Gene

Sources for MPZL3 Gene