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

Gene ID: 221806, updated on 13-Mar-2020

Summary

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
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
Expression
Biased expression in thyroid (RPKM 1.2), heart (RPKM 0.6) and 13 other tissues See more
Orthologs

Genomic context

See VWDE in Genome Data Viewer
Location:
7p21.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (12330885..12403941, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12370509..12443852, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene thrombospondin type 1 domain containing 7A Neighboring gene THRAP3 pseudogene 3 Neighboring gene transmembrane protein 106B Neighboring gene uncharacterized LOC105375154 Neighboring gene uncharacterized LOC105375155 Neighboring gene CTAGE family member 5, ER export factor

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001135924.3NP_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
    Q8N2E2
    Related
    ENSP00000275358.3, ENST00000275358.8
    Conserved Domains (1) summary
    cl02516
    Location:423581
    VWD; von Willebrand factor type D domain
  2. NM_001346972.1NP_001333901.1  von Willebrand factor D and EGF domain-containing protein isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC007321, AC013470
  3. NM_001346973.1NP_001333902.1  von Willebrand factor D and EGF domain-containing protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC007321, AC013470

RNA

  1. NR_144534.1 RNA Sequence

    Status: VALIDATED

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    12330885..12403941 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249641.1XP_005249698.1  von Willebrand factor D and EGF domain-containing protein isoform X5

    UniProtKB/Swiss-Prot
    Q8N2E2
    Related
    ENSP00000481403.1, ENST00000614403.4
  2. XM_011515175.1XP_011513477.1  von Willebrand factor D and EGF domain-containing protein isoform X2

    Conserved Domains (1) summary
    cl02516
    Location:423581
    VWD; von Willebrand factor type D domain
  3. XM_011515174.1XP_011513476.1  von Willebrand factor D and EGF domain-containing protein isoform X1

    Conserved Domains (2) summary
    smart00179
    Location:12551293
    EGF_CA; Calcium-binding EGF-like domain
    cl02516
    Location:423581
    VWD; von Willebrand factor type D domain
  4. XM_017011829.1XP_016867318.1  von Willebrand factor D and EGF domain-containing protein isoform X3

  5. XM_017011830.1XP_016867319.1  von Willebrand factor D and EGF domain-containing protein isoform X4

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