Aliases for VWCE Gene

Aliases for VWCE Gene

  • Von Willebrand Factor C And EGF Domains 2 3 5
  • URG11 2 3 4
  • Von Willebrand Factor C And EGF Domain-Containing Protein 3 4
  • HBV X Protein Up-Regulated Gene 11 Protein 3 4
  • HBxAg Up-Regulated Gene 11 Protein 3 4
  • VWC1 2 3
  • FLJ32009 2
  • VWCE 5

External Ids for VWCE Gene

Previous GeneCards Identifiers for VWCE Gene

  • GC11M060783
  • GC11M061025
  • GC11M057353

Summaries for VWCE Gene

GeneCards Summary for VWCE Gene

VWCE (Von Willebrand Factor C And EGF Domains) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is OTOG.

UniProtKB/Swiss-Prot Summary for VWCE Gene

  • May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma.

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

Genomics for VWCE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VWCE 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
GH11J061293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.7 715 3.2 BCLAF1 ZNF600 SSRP1 ATF2 KLF9 POLR2A ZIC2 ZBTB10 YY1 MXD4 HSALNG0084512-001 HSALNG0084512-002 VWCE piR-51671-010 PGA5
GH11J061254 Enhancer 0.9 Ensembl ENCODE 11.5 +40.7 40732 0.7 ZNF654 REST DEK TRIM22 CTCF RAD21 SMC3 EBF1 RBM22 SMARCA5 lnc-PGA5-1 VWCE DDB1 TMEM216 TKFC CD6 HSALNG0084508 PGA5
GH11J061267 Enhancer 0.8 ENCODE 12.4 +27.7 27692 0.2 IKZF1 MYC ZNF592 YY1 FOXA2 SMAD4 RXRA SAP130 RARA RBM22 lnc-DDB1-4 VWCE DDB1 TKFC lnc-DDB1-3 piR-41406-011 PGA5
GH11J061265 Enhancer 0.7 ENCODE 12.4 +29.8 29825 0.8 CEBPA CHD4 FOXA2 SMAD4 RXRA RARA ZSCAN9 ZBTB33 THRB FOSL2 VWCE DDB1 TKFC lnc-DDB1-4 piR-41406-011 PGA5
GH11J061693 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 -402.6 -402608 8.5 JUND ZIC2 CEBPB REST DEK ZNF341 CTCF MAX ZBTB7B ZNF217 MYRF MYRF-AS1 DAGLA SYT7 FTH1 CYB561A3 VWCE SDHAF2 DDB1 CPSF7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the VWCE gene promoter:
  • AML1a
  • AP-2gamma
  • AP-4
  • CREB
  • deltaCREB
  • E47
  • Pax-4a
  • Sp1
  • Tal-1

Genomic Locations for VWCE Gene

Latest Assembly
chr11:61,258,286-61,295,316
(GRCh38/hg38)
Size:
37,031 bases
Orientation:
Minus strand

Previous Assembly
chr11:61,025,758-61,062,788
(GRCh37/hg19 by Entrez Gene)
Size:
37,031 bases
Orientation:
Minus strand

chr11:61,025,762-61,062,896
(GRCh37/hg19 by Ensembl)
Size:
37,135 bases
Orientation:
Minus strand

Genomic View for VWCE Gene

Genes around VWCE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for VWCE Gene

Proteins for VWCE Gene

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

    Protein Symbol:
    Q96DN2-VWCE_HUMAN
    Recommended name:
    von Willebrand factor C and EGF domain-containing protein
    Protein Accession:
    Q96DN2
    Secondary Accessions:
    • A5PKV0
    • Q7Z7L6
    • Q86WK8

    Protein attributes for VWCE Gene

    Size:
    955 amino acids
    Molecular mass:
    99915 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAO47606.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for VWCE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWCE Gene

Post-translational modifications for VWCE Gene

  • Glycosylation at Asn462, Asn472, Ser879, and Ser885
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VWCE Gene

Domains & Families for VWCE Gene

Gene Families for VWCE Gene

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

Protein Domains for VWCE Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • von Willebrand factor, type C

Suggested Antigen Peptide Sequences for VWCE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58937 (B4DS56_HUMAN)
  • cDNA FLJ51386 (B4DY31_HUMAN)
  • HBxAg up-regulated gene 11 protein (VWCE_HUMAN)
genes like me logo Genes that share domains with VWCE: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VWCE Gene

Function for VWCE Gene

Molecular function for VWCE Gene

UniProtKB/Swiss-Prot Function:
May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma.
UniProtKB/Swiss-Prot Induction:
By HBxAg.

Phenotypes From GWAS Catalog for VWCE Gene

Gene Ontology (GO) - Molecular Function for VWCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 32296183
genes like me logo Genes that share ontologies with VWCE: view
genes like me logo Genes that share phenotypes with VWCE: view

Animal Models for research

  • Taconic Biosciences Mouse Models for VWCE

Inhibitory RNAs for research

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

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

Localization for VWCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWCE Gene

Secreted. Note=According to PubMed:16496348 is localized in the cytoplasm. {ECO:0000269 PubMed:16496348}.

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 VWCE gene
Compartment Confidence
extracellular 4
plasma membrane 3
nucleus 3
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for VWCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IBA,IDA 16496348
genes like me logo Genes that share ontologies with VWCE: view

Pathways & Interactions for VWCE Gene

PathCards logo

SuperPathways for VWCE Gene

No Data Available

Gene Ontology (GO) - Biological Process for VWCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0098586 cellular response to virus IBA,IEP 16496348
genes like me logo Genes that share ontologies with VWCE: view

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

Drugs & Compounds for VWCE Gene

No Compound Related Data Available

Transcripts for VWCE Gene

mRNA/cDNA for VWCE Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 VWCE

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3:

Relevant External Links for VWCE Gene

GeneLoc Exon Structure for
VWCE

Expression for VWCE Gene

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

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

This gene is overexpressed in Liver (x9.7) and Ovary (x5.1).

Protein differential expression in normal tissues from HIPED for VWCE Gene

This gene is overexpressed in Placenta (69.0).

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



Protein tissue co-expression partners for VWCE Gene

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

SOURCE GeneReport for Unigene cluster for VWCE Gene:

Hs.60640

mRNA Expression by UniProt/SwissProt for VWCE Gene:

Q96DN2-VWCE_HUMAN
Tissue specificity: Expressed in liver.
genes like me logo Genes that share expression patterns with VWCE: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWCE Gene

Orthologs for VWCE Gene

This gene was present in the common ancestor of animals.

Orthologs for VWCE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VWCE 29 30
  • 98.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VWCE 29 30
  • 84.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VWCE 29 30
  • 84.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vwce 29 16 30
  • 80.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vwce 29
  • 79.49 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 75 (a)
OneToMany
-- 30
  • 56 (a)
OneToMany
-- 30
  • 30 (a)
OneToMany
-- 30
  • 29 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia VWCE 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VWCE 30
  • 58 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VWCE 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488202 29
  • 58.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii VWCE 30
  • 23 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mua-3 30
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 5 (a)
OneToMany
Species where no ortholog for VWCE 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 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 VWCE Gene

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

Paralogs for VWCE Gene

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

Variants for VWCE Gene

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

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
932506 Likely Benign: not provided 61,276,672(-) G/A
NM_152718.2(VWCE):c.1416C>T (p.Asn472=)
SYNONYMOUS
rs114085454 Benign: not provided 61,259,168(-) G/A
NM_152718.2(VWCE):c.2375C>T (p.Ser792Leu)
MISSENSE
rs142520723 Benign: not provided 61,281,191(-) G/A
NM_152718.2(VWCE):c.832C>T (p.Arg278Trp)
MISSENSE
rs537353127 Pathogenic: Short stature 61,273,265(-) G/A
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)
NONSENSE
rs61746696 Benign: not provided 61,265,147(-) G/A
NM_152718.2(VWCE):c.2031C>T (p.Asp677=)
SYNONYMOUS

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

Variant ID Type Subtype PubMed ID
esv2759831 CNV gain+loss 17122850
esv28446 CNV loss 19812545
esv3344020 CNV duplication 20981092
esv3626577 CNV loss 21293372
nsv1070460 CNV deletion 25765185
nsv1143542 CNV deletion 24896259
nsv1148857 CNV duplication 26484159
nsv341 CNV insertion 18451855
nsv428259 CNV gain+loss 18775914
nsv509415 CNV insertion 20534489
nsv832177 CNV loss 17160897
nsv8834 CNV gain+loss 18304495

Variation tolerance for VWCE Gene

Residual Variation Intolerance Score: 32.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VWCE Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for VWCE Gene

Additional Disease Information for VWCE

No disorders were found for VWCE Gene.

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

Publications for VWCE Gene

  1. Enhanced cell survival of Hep3B cells by the hepatitis B x antigen effector, URG11, is associated with upregulation of beta-catenin. (PMID: 16496348) Lian Z … Feitelson MA (Hepatology (Baltimore, Md.) 2006) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Upregulated expression of a unique gene by hepatitis B x antigen promotes hepatocellular growth and tumorigenesis. (PMID: 12869306) Lian Z … Feitelson MA (Neoplasia (New York, N.Y.) 2003) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. URG11 promotes proliferation and induced apoptosis of LNCaP cells. (PMID: 30864678) Sun C … Liu M (International journal of molecular medicine 2019) 3

Products for VWCE Gene

Sources for VWCE Gene