Aliases for VWCE Gene

Aliases for VWCE Gene

  • Von Willebrand Factor C And EGF Domains 2 3 5
  • 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
  • URG11 3 4
  • VWC1 3

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 MUC5B.

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.

Additional gene information for VWCE Gene

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 for VWCE Gene

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 750.6 +1.2 1215 4.2 ZNF785 RBPJ POLR2A TCF7L2 NR2F1 ZNF362 RAD21 MNT ELF3 AHR HSALNG0084512 VWCE piR-51671-010
GH11J061267 Enhancer 1 Ensembl ENCODE 12.3 +28.2 28215 1.4 FOXA1 NR2F1 NR2F6 L3MBTL2 TEAD4 SP1 IKZF1 RXRA RXRB FOXA2 TMEM216 VWCE DDB1 TKFC lnc-DDB1-3 lnc-DDB1-4 piR-41406-011
GH11J061265 Enhancer 0.7 ENCODE 12.3 +29.8 29825 0.8 MLX RBPJ HLF SP1 CEBPG HNF1A CEBPA RXRA GATAD2A RXRB VWCE DDB1 TKFC lnc-DDB1-4 piR-41406-011
GH11J061693 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 -402.6 -402608 8.5 CTCF POLR2A USF2 ZNF217 MYC MAX MNT NCOA3 MAFK TFE3 MYRF MYRF-AS1 DAGLA SYT7 FTH1 CYB561A3 VWCE SDHAF2 DDB1 CPSF7
GH11J061254 Enhancer 0.7 ENCODE 11.5 +40.7 40712 0.2 CTCF L3MBTL2 RAD21 ARID2 REST TRIM22 ZNF143 CTBP1 SMARCA5 PKNOX1 lnc-PGA5-1 VWCE DDB1 TKFC NONHSAG008458.2
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for VWCE Gene
chr11:61,258,286-61,295,316
(GRCh38/hg38)
Size:
37,031 bases
Orientation:
Minus strand
chr11:61,025,758-61,062,896
(GRCh37/hg19)
Size:
37,139 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; Positions=210, 232, 745, 761, 769, 837, 912; 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

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 --
genes like me logo Genes that share ontologies with VWCE: view
genes like me logo Genes that share phenotypes with VWCE: view

Animal Model Products

  • Taconic Biosciences Mouse Models for VWCE

CRISPR Products

Clone Products

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 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (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 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 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

CRISPR Products

Clone Products

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
ECgene alternative splicing isoforms for
VWCE

Expression for VWCE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of VWCE Gene:

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

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 33 32
  • 98.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VWCE 33 32
  • 84.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VWCE 33 32
  • 84.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vwce 17 33 32
  • 80.76 (n)
rat
(Rattus norvegicus)
Mammalia Vwce 32
  • 79.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 75 (a)
OneToMany
-- 33
  • 56 (a)
OneToMany
-- 33
  • 30 (a)
OneToMany
-- 33
  • 29 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia VWCE 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWCE 33
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VWCE 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488202 32
  • 58.35 (n)
zebrafish
(Danio rerio)
Actinopterygii VWCE 33
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mua-3 33
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 5 (a)
OneToMany
Species where no ortholog for VWCE 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)
  • 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 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

Paralogs for VWCE Gene

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

Variants for VWCE Gene

Sequence variations from dbSNP and Humsavar for VWCE Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs537353127 pathogenic, Short stature 61,273,265(-) G/A/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs1000005426 -- 61,294,270(-) C/A intron_variant
rs1000052842 -- 61,287,501(-) G/A intron_variant
rs1000282236 -- 61,261,452(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000291661 -- 61,269,169(-) A/G intron_variant

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

SNP Genotyping and Copy Number Assay Products

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 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  4. URG11 promotes proliferation and induced apoptosis of LNCaP cells. (PMID: 30864678) Sun C … Liu M (International journal of molecular medicine 2019) 3 56
  5. Silencing of URG11 expression inhibits the proliferation and epithelial‑mesenchymal transition in benign prostatic hyperplasia cells via the RhoA/ROCK1 pathway. (PMID: 29749520) Zhang G … Li J (Molecular medicine reports 2018) 3 56

Products for VWCE Gene

Sources for VWCE Gene