This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a ta... See more...

Aliases for VEZT Gene

Aliases for VEZT Gene

  • Vezatin, Adherens Junctions Transmembrane Protein 2 3 5
  • Vezatin 3 4
  • DKFZP761C241 2
  • VEZATIN 3
  • VEZT 5

External Ids for VEZT Gene

Previous GeneCards Identifiers for VEZT Gene

  • GC12P094115
  • GC12P095611
  • GC12P092680

Summaries for VEZT Gene

Entrez Gene Summary for VEZT Gene

  • This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

GeneCards Summary for VEZT Gene

VEZT (Vezatin, Adherens Junctions Transmembrane Protein) is a Protein Coding gene. Diseases associated with VEZT include Usher Syndrome, Type I and Anterior Compartment Syndrome. Gene Ontology (GO) annotations related to this gene include myosin binding.

UniProtKB/Swiss-Prot Summary for VEZT Gene

  • Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process.
  • (Microbial infection) In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site.

Gene Wiki entry for VEZT Gene

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

Genomics for VEZT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VEZT 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
GH12J095211 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -1.5 -1549 8.7 SP1 HNRNPL CREB1 TEAD4 REST ZNF629 TFE3 SIX5 IKZF1 CTCF FGD6 VEZT METAP2 lnc-NR2C1-5 NR2C1
GH12J095227 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.4 +11.6 11554 7.4 PRDM1 PHF21A KAT8 DPF2 HDAC1 YY1 EP300 CEBPB NFE2 HDAC2 VEZT FGD6 NDUFA12 piR-31508-012 piR-49732-113 METAP2
GH12J095072 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 21.7 -144.3 -144320 2.9 CREB1 GATAD2A CTCF PRDM10 ZNF629 ZNF692 TARDBP ZHX2 JUND LARP7 NR2C1 lnc-FGD6-2 VEZT NDUFA12 FGD6 RF00017-1209
GH12J095114 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 22.4 -100.7 -100708 5.7 GATAD2A CTCF ATF7 ZNF629 ZSCAN4 REST RAD21 TRIM22 PBX2 ZBTB44 RF00017-1210 FGD6 VEZT NDUFA12 hsa-miR-1273e-016 LOC112268099 NR2C1
GH12J095182 Enhancer 0.8 ENCODE 33.6 -34.6 -34606 1.1 IKZF1 BACH1 JUND MTA2 PHF21A PKNOX1 ZNF24 DPF2 TCF12 EED VEZT FGD6 lnc-NR2C1-5 RPL14P4 NR2C1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the VEZT gene promoter:
  • AML1a
  • Cart-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • LCR-F1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pbx1a

Genomic Locations for VEZT Gene

Genomic Locations for VEZT Gene
chr12:95,217,746-95,302,799
(GRCh38/hg38)
Size:
85,054 bases
Orientation:
Plus strand
chr12:95,611,522-95,696,566
(GRCh37/hg19)
Size:
85,045 bases
Orientation:
Plus strand

Genomic View for VEZT Gene

Genes around VEZT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for VEZT Gene

Proteins for VEZT Gene

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

    Protein Symbol:
    Q9HBM0-VEZA_HUMAN
    Recommended name:
    Vezatin
    Protein Accession:
    Q9HBM0
    Secondary Accessions:
    • Q6P1Q3
    • Q9H2F4
    • Q9H2U5
    • Q9NT70
    • Q9NVW0
    • Q9UF91

    Protein attributes for VEZT Gene

    Size:
    779 amino acids
    Molecular mass:
    88665 Da
    Quaternary structure:
    • Interacts with USH2A (via the cytoplasmic region); the interaction associates VEZT with the USH2 complex at the stereocilia base (By similarity). Interacts with myosin MYO7A and the cadherin-catenins complex (PubMed:11080149).
    SequenceCaution:
    • Sequence=AAG38514.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAH64939.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAA91634.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB70772.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Due to intron retention.
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 6]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for VEZT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VEZT Gene

Post-translational modifications for VEZT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for VEZT
  • Boster Bio Antibodies for VEZT

No data available for DME Specific Peptides for VEZT Gene

Domains & Families for VEZT Gene

Gene Families for VEZT Gene

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

Protein Domains for VEZT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VEZT Gene

GenScript: Design optimal peptide antigens:
  • Vezatin (VEZA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HBM0

UniProtKB/Swiss-Prot:

VEZA_HUMAN :
  • Belongs to the vezatin family.
Family:
  • Belongs to the vezatin family.
genes like me logo Genes that share domains with VEZT: view

Function for VEZT Gene

Molecular function for VEZT Gene

UniProtKB/Swiss-Prot Function:
Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process.
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site.

Phenotypes From GWAS Catalog for VEZT Gene

Gene Ontology (GO) - Molecular Function for VEZT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017022 myosin binding IEA --
genes like me logo Genes that share ontologies with VEZT: view
genes like me logo Genes that share phenotypes with VEZT: view

Animal Models for VEZT Gene

MGI Knock Outs for VEZT:
  • Vezt Vezt<tm1.1Smc>
  • Vezt Vezt<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for VEZT

CRISPR Products

miRNA for VEZT Gene

miRTarBase miRNAs that target VEZT

Inhibitory RNA Products

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

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

Localization for VEZT Gene

Subcellular locations from UniProtKB/Swiss-Prot for VEZT Gene

Cell membrane. Multi-pass membrane protein. Cell projection, stereocilium membrane. Cell junction, adherens junction. Nucleus. Cytoplasmic vesicle, secretory vesicle, acrosome.

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 VEZT gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VEZT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0002142 stereocilia ankle link complex ISS --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with VEZT: view

Pathways & Interactions for VEZT Gene

PathCards logo

SuperPathways for VEZT Gene

No Data Available

Gene Ontology (GO) - Biological Process for VEZT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with VEZT: view

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

Drugs & Compounds for VEZT Gene

No Compound Related Data Available

Transcripts for VEZT Gene

mRNA/cDNA for VEZT Gene

33 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
41 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^
SP1: - - - - - - - - - - - -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: -
SP12: - - - -
SP13:
SP14:
SP15:
SP16: - -

ExUns: 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c · 18d
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:

Relevant External Links for VEZT Gene

GeneLoc Exon Structure for
VEZT

Expression for VEZT Gene

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

Protein differential expression in normal tissues from HIPED for VEZT Gene

This gene is overexpressed in Nasal epithelium (53.0).

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



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

SOURCE GeneReport for Unigene cluster for VEZT Gene:

Hs.24135

Evidence on tissue expression from TISSUES for VEZT Gene

  • Nervous system(4.9)
  • Skin(4.4)
  • Eye(4.3)
  • Adrenal gland(4.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with VEZT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VEZT Gene

Orthologs for VEZT Gene

This gene was present in the common ancestor of chordates.

Orthologs for VEZT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VEZT 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VEZT 30 31
  • 93.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VEZT 30 31
  • 92.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vezt 30 17 31
  • 83.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vezt 30
  • 83.25 (n)
Oppossum
(Monodelphis domestica)
Mammalia VEZT 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VEZT 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VEZT 30 31
  • 74.38 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vezt 30
  • 64.79 (n)
Str.11013 30
African clawed frog
(Xenopus laevis)
Amphibia MGC69081 30
Zebrafish
(Danio rerio)
Actinopterygii vetz 30 31
  • 54.9 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToOne
Species where no ortholog for VEZT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 VEZT Gene

ENSEMBL:
Gene Tree for VEZT (if available)
TreeFam:
Gene Tree for VEZT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VEZT: view image

Paralogs for VEZT Gene

Pseudogenes.org Pseudogenes for VEZT Gene

genes like me logo Genes that share paralogs with VEZT: view

No data available for Paralogs for VEZT Gene

Variants for VEZT Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10507051 - p.Val496Ile
rs14121 - p.Gly762Asp
rs17344738 - p.Val612Met
rs17855933 - p.Thr162Ala
rs17855934 - p.Ser668Ala

Additional dbSNP identifiers (rs#s) for VEZT Gene

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

Variant ID Type Subtype PubMed ID
esv2762998 CNV gain 21179565
esv3371624 CNV insertion 20981092
nsv1040859 CNV gain 25217958
nsv7234 OTHER inversion 18451855

Variation tolerance for VEZT Gene

Residual Variation Intolerance Score: 90.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VEZT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VEZT

SNP Genotyping and Copy Number Assay Products

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

Disorders for VEZT Gene

MalaCards: The human disease database

(11) MalaCards diseases for VEZT Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search VEZT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VEZT

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

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

Publications for VEZT Gene

  1. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. (PMID: 11080149) Küssel-Andermann P … Petit C (The EMBO journal 2000) 2 3 4 23
  2. Down-regulation of VEZT gene expression in human gastric cancer involves promoter methylation and miR-43c. (PMID: 21156161) Guo X … Li C (Biochemical and biophysical research communications 2011) 2 3
  3. Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis. (PMID: 16199027) Hyenne V … Simmler MC (Developmental biology 2005) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells. (PMID: 15090598) Sousa S … Cossart P (Journal of cell science 2004) 4 23

Products for VEZT Gene

Sources for VEZT Gene