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    VWDE von Willebrand factor D and EGF domains [ Homo sapiens (human) ]

    Gene ID: 221806, updated on 10-Dec-2024

    Summary

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    Official Symbol
    VWDEprovided by HGNC
    Official Full Name
    von Willebrand factor D and EGF domainsprovided by HGNC
    Primary source
    HGNC:HGNC:21897
    See related
    Ensembl:ENSG00000146530 AllianceGenome:HGNC:21897
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable signaling receptor binding activity. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thyroid (RPKM 1.2), heart (RPKM 0.6) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VWDE in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (12330885..12403865, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (12461770..12534760, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12370511..12443491, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901589 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:12105584-12106783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25662 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:12250602-12251120 and GRCh37_chr7:12251121-12251637 Neighboring gene MPRA-validated peak6387 silencer Neighboring gene transmembrane protein 106B Neighboring gene MPRA-validated peak6388 silencer Neighboring gene MPRA-validated peak6389 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:12368624-12369515 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:12442779-12443346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:12443347-12443912 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:12444224-12444413 Neighboring gene uncharacterized LOC105375154 Neighboring gene uncharacterized LOC105375155 Neighboring gene CTAGE family member 5, ER export factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 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. Niu N, et al. BMC Cancer, 2012 Sep 24. PMID 23006423, Free PMC Article
    2. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. Fung E, et al. EMBO Rep, 2018 Mar. PMID 29348145, Free PMC Article
    3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
    4. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. Liu B, et al. J Proteome Res, 2012 Mar 2. PMID 22268729
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    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.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14712

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    von Willebrand factor D and EGF domain-containing protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135924.3 → NP_001129396.1  von Willebrand factor D and EGF domain-containing protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001129396.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC007321, AC013470
      Consensus CDS
      CCDS47544.1
      UniProtKB/Swiss-Prot
      B7ZM77, Q8N2E2, Q96SQ3
      Related
      ENSP00000275358.3, ENST00000275358.8
      Conserved Domains (1) summary
      cl02516
      Location:423 → 581
      VWD; von Willebrand factor type D domain

    2. NM_001346972.2 → NP_001333901.1  von Willebrand factor D and EGF domain-containing protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC007321, AC013470

    3. NM_001346973.2 → NP_001333902.1  von Willebrand factor D and EGF domain-containing protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007321, AC013470

    RNA

    1. NR_144534.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007321, AC013470
      Related
      ENST00000452576.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      12330885..12403865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      12461770..12534760 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_174949.2: Suppressed sequence

      Description
      NM_174949.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

    2. NM_182545.1: Suppressed sequence

      Description
      NM_182545.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2E2.4 GenPept UniProtKB/Swiss-Prot:Q8N2E2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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