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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 TENM3.

Additional gene information for VWDE Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for VWDE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H012422 1.2 Ensembl ENCODE dbSUPER 20.3 -19.6 -19616 2.4 JUN MAX CEBPB REST EP300 ZNF316 JUND MAFF POLR2A STAT3 VWDE LOC100419641 LOC105375154
GH07H012400 1 ENCODE 21 +1.7 1703 4.9 PKNOX1 ATF1 ZNF2 GLIS2 ELK1 ATF7 SP3 GTF2B SMARCB1 MYNN VWDE SCIN GC07M012381
GH07H012297 0.6 ENCODE 16 +106.3 106317 0.2 ZNF217 SMARCE1 CTBP1 GATA3 ELF1 RCOR1 DPF2 VWDE TMEM106B GC07M012369
GH07H012257 1.4 FANTOM5 Ensembl ENCODE 6 +146.4 146373 1.7 TBL1XR1 BMI1 ZBTB40 BATF THRB ATF7 ETV6 RUNX3 IKZF2 CREM VWDE SCIN ARL4A TMEM106B GC07M012369
GH07H012709 2 FANTOM5 Ensembl ENCODE dbSUPER 3.6 -309.5 -309478 7.9 FOXA2 ARNT SIN3A FEZF1 ZNF2 ZNF766 DEK REST ZNF592 MEF2D VWDE ARL4A GC07M012701 ENSG00000199470 GC07M012700
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWDE on UCSC Golden Path with GeneCards custom track

Promoters for VWDE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000208502 625 1200 PKNOX1 ATF1 ZNF2 GLIS2 ELK1 ATF7 SP3 GTF2B SMARCB1 SMARCA4

Genomic Locations for VWDE Gene

Genomic Locations for VWDE Gene
chr7:12,330,883-12,404,226
(GRCh38/hg38)
Size:
73,344 bases
Orientation:
Minus strand
chr7:12,370,509-12,443,852
(GRCh37/hg19)

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

Post-translational modifications for VWDE Gene

  • Glycosylation at Asn367, Asn703, and Asn968
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VWDE Gene

Domains & Families for VWDE Gene

Gene Families for VWDE Gene

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

Protein Domains for VWDE Gene

Suggested Antigen Peptide Sequences for VWDE Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for VWDE Gene

Function for VWDE Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

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
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 VWDE gene
Compartment Confidence
extracellular 4
plasma membrane 3
nucleus 2
cytosol 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for VWDE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with VWDE: view

Pathways & Interactions for VWDE Gene

No Data Available

Interacting Proteins for VWDE Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000275358%0d%0a9606.ENSP00000312134%0d%0a
Selected Interacting proteins: Q8N2E2-VWDE_HUMAN ENSP00000275358 for VWDE Gene via IID STRING

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

(9) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(8) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for VWDE Gene



NURSA nuclear receptor signaling pathways regulating expression of VWDE Gene:

VWDE

SOURCE GeneReport for Unigene cluster for VWDE Gene:

Hs.669526
genes like me logo Genes that share expression patterns with VWDE: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia VWDE 33 34
  • 98.95 (n)
dog
(Canis familiaris)
Mammalia VWDE 33 34
  • 86.43 (n)
cow
(Bos Taurus)
Mammalia VWDE 33
  • 84.05 (n)
rat
(Rattus norvegicus)
Mammalia Vwde 33
  • 79.44 (n)
mouse
(Mus musculus)
Mammalia Vwde 33 16 34
  • 79.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 3 (a)
ManyToMany
chicken
(Gallus gallus)
Aves VWDE 33 34
  • 68.93 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 76 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vwde 33
  • 64.75 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100006681 33
  • 58.73 (n)
VWDE 34
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shf 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01D3.1 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToOne
Species where no ortholog for VWDE was found in the sources mined by GeneCards:
  • 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
rs1000032445 -- 12,382,844(+) TTTAT(G/T)TTAAG intron-variant
rs1000061523 -- 12,351,902(+) ATTCA(A/T)ATGTT intron-variant, utr-variant-3-prime
rs1000107725 -- 12,392,876(+) TAAAC(C/G)TGATG intron-variant
rs1000126592 -- 12,388,762(+) TGAAA(G/T)ATGAA intron-variant
rs1000152630 -- 12,368,628(+) ATGGT(A/T)GGGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv606225 CNV loss 21841781
nsv606224 CNV gain 21841781
nsv606223 CNV gain 21841781
nsv606199 CNV gain 21841781
nsv516511 CNV loss 19592680
nsv470044 CNV loss 18288195
nsv464374 CNV loss 19166990
nsv464371 CNV gain 19166990
nsv1019021 CNV loss 25217958
esv3612250 CNV gain 21293372
esv3612249 CNV loss 21293372
esv3571646 CNV loss 25503493
esv3571645 CNV loss 25503493
esv3571643 CNV loss 25503493
esv2763622 CNV gain 21179565
dgv6272n100 CNV loss 25217958
dgv1870e212 CNV loss 25503493
dgv11207n54 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 research : an international journal for rapid publication of reports on genes and genomes 2005) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for VWDE Gene

Sources for VWDE Gene

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