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Aliases for VWDE Gene

Aliases for VWDE Gene

  • Von Willebrand Factor D And EGF Domains 2 3 5

External Ids for VWDE Gene

Summaries for VWDE Gene

GeneCards Summary for VWDE Gene

VWDE (Von Willebrand Factor D And EGF Domains) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is WIF1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWDE Gene

Genomics for VWDE Gene

Regulatory Elements for VWDE Gene

Genomic Location for VWDE Gene

Chromosome:
7
Start:
12,330,883 bp from pter
End:
12,404,226 bp from pter
Size:
73,344 bases
Orientation:
Minus strand

Genomic View for VWDE Gene

Genes around VWDE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for VWDE Gene

Proteins for VWDE Gene

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

    Protein Symbol:
    Q8N2E2-VWDE_HUMAN
    Recommended name:
    von Willebrand factor D and EGF domain-containing protein
    Protein Accession:
    Q8N2E2
    Secondary Accessions:
    • B7ZM77
    • Q96SQ3

    Protein attributes for VWDE Gene

    Size:
    1590 amino acids
    Molecular mass:
    176780 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI44320.1; Type=Frameshift; Positions=1487; Evidence={ECO:0000305}; Sequence=BAB55237.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11671.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=EAW93644.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for VWDE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWDE Gene

Proteomics data for VWDE Gene at MOPED

Post-translational modifications for VWDE Gene

  • Glycosylation at Asn 367, Asn 703, and Asn 968
  • Modification sites at PhosphoSitePlus

Other Protein References for VWDE Gene

No data available for DME Specific Peptides for VWDE Gene

Domains & Families for VWDE Gene

Protein Domains for VWDE Gene

Suggested Antigen Peptide Sequences for VWDE Gene

Graphical View of Domain Structure for InterPro Entry

Q8N2E2

UniProtKB/Swiss-Prot:

VWDE_HUMAN :
  • Contains 7 EGF-like domains.
Domain:
  • Contains 7 EGF-like domains.
  • Contains 1 VWFD domain.
genes like me logo Genes that share domains with VWDE: view

No data available for Gene Families for VWDE Gene

Function for VWDE Gene

Phenotypes for VWDE Gene

GenomeRNAi human phenotypes for VWDE:
genes like me logo Genes that share phenotypes with VWDE: view

Animal Model Products

  • Taconic Biosciences Mouse Models for VWDE

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for VWDE Gene

Localization for VWDE Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWDE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWDE Gene COMPARTMENTS Subcellular localization image for VWDE gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytosol 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for VWDE Gene

Pathways & Interactions for VWDE Gene

SuperPathways for VWDE Gene

No Data Available

Interacting Proteins for VWDE Gene

Gene Ontology (GO) - Biological Process for VWDE Gene

None

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

Drugs & Compounds for VWDE Gene

No Compound Related Data Available

Transcripts for VWDE Gene

mRNA/cDNA for VWDE Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VWDE Gene

Von Willebrand factor D and EGF domains:
Representative Sequences:

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

No ASD Table

Relevant External Links for VWDE Gene

GeneLoc Exon Structure for
VWDE
ECgene alternative splicing isoforms for
VWDE

Expression for VWDE Gene

mRNA expression in normal human tissues for VWDE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pituitary (x14.6) and Heart - Atrial Appendage (x8.0).

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



SOURCE GeneReport for Unigene cluster for VWDE Gene Hs.669526

genes like me logo Genes that share expression patterns with VWDE: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for VWDE Gene

Orthologs for VWDE Gene

This gene was present in the common ancestor of animals.

Orthologs for VWDE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VWDE 35
  • 84.05 (n)
  • 76.71 (a)
dog
(Canis familiaris)
Mammalia VWDE 35
  • 86.43 (n)
  • 80.98 (a)
VWDE 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vwde 35
  • 79.06 (n)
  • 73.36 (a)
Vwde 16
Vwde 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VWDE 35
  • 98.95 (n)
  • 97.86 (a)
VWDE 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vwde 35
  • 79.44 (n)
  • 74.14 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 37 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 3 (a)
ManyToMany
chicken
(Gallus gallus)
Aves VWDE 35
  • 68.93 (n)
  • 62.19 (a)
VWDE 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 76 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vwde 35
  • 64.75 (n)
  • 59.17 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100006681 35
  • 58.73 (n)
  • 53.78 (a)
VWDE 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shf 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01D3.1 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for VWDE:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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)

Evolution for VWDE Gene

ENSEMBL:
Gene Tree for VWDE (if available)
TreeFam:
Gene Tree for VWDE (if available)

Paralogs for VWDE Gene

Paralogs for VWDE Gene

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

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

Variants for VWDE Gene

Sequence variations from dbSNP and Humsavar for VWDE Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6460939 - 12,367,363(+) TGTAG(C/G)TTAGT nc-transcript-variant, reference, missense
rs2053380 - 12,361,211(-) AATAA(C/T)GGTCA nc-transcript-variant, reference, missense
rs6967385 - 12,351,693(+) AAATT(G/T)ATTTA nc-transcript-variant, reference, missense
rs2192828 - 12,337,185(-) GAGAT(G/T)CCAAA nc-transcript-variant, reference, missense
rs963323 - 12,370,486(-) CATGT(C/T)TGACA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv7191n71 CNV Loss 21882294
dgv7192n71 CNV Gain 21882294
nsv464371 CNV Gain 19166990
nsv887634 CNV Gain 21882294
nsv470044 CNV Loss 18288195
nsv887635 CNV Loss 21882294
nsv464374 CNV Loss 19166990
dgv7193n71 CNV Loss 21882294
nsv516511 CNV Loss 19592680

Variation tolerance for VWDE Gene

Gene Damage Index Score: 24.72; 99.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWDE Gene

HapMap Linkage Disequilibrium report
VWDE

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

Disorders for VWDE Gene

Relevant External Links for VWDE

Genetic Association Database (GAD)
VWDE
Human Genome Epidemiology (HuGE) Navigator
VWDE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWDE

No disorders were found for VWDE Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWDE Gene

Publications for VWDE Gene

  1. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 2 3 4 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PMID: 22268729) Liu B. … Wang L.S. (J. Proteome Res. 2012) 3
  5. Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. (PMID: 23006423) Niu N. … Wang L. (BMC Cancer 2012) 3

Products for VWDE Gene

Sources for VWDE Gene

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