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Aliases for VWA5B2 Gene

Aliases for VWA5B2 Gene

  • Von Willebrand Factor A Domain Containing 5B2 2 3

External Ids for VWA5B2 Gene

Previous GeneCards Identifiers for VWA5B2 Gene

  • GC03P185436
  • GC03P183948
  • GC03P181354

Summaries for VWA5B2 Gene

GeneCards Summary for VWA5B2 Gene

VWA5B2 (Von Willebrand Factor A Domain Containing 5B2) is a Protein Coding gene. An important paralog of this gene is VWA5A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA5B2 Gene

Genomics for VWA5B2 Gene

Regulatory Elements for VWA5B2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for VWA5B2 Gene

Chromosome:
3
Start:
184,229,588 bp from pter
End:
184,242,330 bp from pter
Size:
12,743 bases
Orientation:
Plus strand

Genomic View for VWA5B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VWA5B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA5B2 Gene

Proteins for VWA5B2 Gene

  • Protein details for VWA5B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N398-VW5B2_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 5B2
    Protein Accession:
    Q8N398
    Secondary Accessions:
    • B9EGN7

    Protein attributes for VWA5B2 Gene

    Size:
    1253 amino acids
    Molecular mass:
    132764 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VWA5B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA5B2 Gene

Proteomics data for VWA5B2 Gene at MOPED

Post-translational modifications for VWA5B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VWA5B2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VWA5B2 Gene

Domains & Families for VWA5B2 Gene

Protein Domains for VWA5B2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWA5B2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N398

UniProtKB/Swiss-Prot:

VW5B2_HUMAN :
  • Contains 1 VIT domain.
Domain:
  • Contains 1 VIT domain.
  • Contains 1 VWFA domain.
genes like me logo Genes that share domains with VWA5B2: view

No data available for Gene Families for VWA5B2 Gene

Function for VWA5B2 Gene

Phenotypes for VWA5B2 Gene

GenomeRNAi human phenotypes for VWA5B2:
genes like me logo Genes that share phenotypes with VWA5B2: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for VWA5B2 Gene

Localization for VWA5B2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWA5B2 Gene COMPARTMENTS Subcellular localization image for VWA5B2 gene
Compartment Confidence
golgi apparatus 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for VWA5B2 Gene

Pathways & Interactions for VWA5B2 Gene

SuperPathways for VWA5B2 Gene

No Data Available

Interacting Proteins for VWA5B2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000398688%0d%0a9606.ENSP00000264951%0d%0a
Selected Interacting proteins: Q8N398-VW5B2_HUMAN ENSP00000398688 for VWA5B2 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for VWA5B2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for VWA5B2 Gene

Drugs & Compounds for VWA5B2 Gene

No Compound Related Data Available

Transcripts for VWA5B2 Gene

mRNA/cDNA for VWA5B2 Gene

(8) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VWA5B2 Gene

Von Willebrand factor A domain containing 5B2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VWA5B2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - -
SP2:
SP3:
SP4:

Relevant External Links for VWA5B2 Gene

GeneLoc Exon Structure for
VWA5B2
ECgene alternative splicing isoforms for
VWA5B2

Expression for VWA5B2 Gene

mRNA expression in normal human tissues for VWA5B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWA5B2 Gene

This gene is overexpressed in Adrenal Gland (x8.1), Brain - Cortex (x5.7), Brain - Hippocampus (x4.8), and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for VWA5B2 Gene

This gene is overexpressed in Adrenal (30.3), Pancreas (13.2), Islet of Langerhans (8.1), Liver (7.6), and Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for VWA5B2 Gene



SOURCE GeneReport for Unigene cluster for VWA5B2 Gene Hs.584997

genes like me logo Genes that share expression patterns with VWA5B2: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for VWA5B2 Gene

Orthologs for VWA5B2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA5B2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VWA5B2 35
  • 87.6 (n)
  • 88.89 (a)
VWA5B2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA5B2 35
  • 88.42 (n)
  • 89.57 (a)
VWA5B2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vwa5b2 35
  • 84.29 (n)
  • 83.88 (a)
Vwa5b2 16
Vwa5b2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VWA5B2 35
  • 99.3 (n)
  • 98.95 (a)
VWA5B2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vwa5b2 35
  • 83.59 (n)
  • 83.64 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA5B2 36
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA5B2 35
  • 60.45 (n)
  • 51.89 (a)
VWA5B2 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VWA5B2 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa5b2 35
  • 49.05 (n)
  • 42.65 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101882427 35
  • 50.48 (n)
  • 42.73 (a)
vwa5b2 36
  • 37 (a)
OneToOne
Species with no ortholog for VWA5B2:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for VWA5B2 Gene

ENSEMBL:
Gene Tree for VWA5B2 (if available)
TreeFam:
Gene Tree for VWA5B2 (if available)

Paralogs for VWA5B2 Gene

Paralogs for VWA5B2 Gene

Pseudogenes.org Pseudogenes for VWA5B2 Gene

genes like me logo Genes that share paralogs with VWA5B2: view

Variants for VWA5B2 Gene

Sequence variations from dbSNP and Humsavar for VWA5B2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs706585 -- 184,229,168(+) GGGGG(G/T)TTCGC upstream-variant-2KB
rs710444 -- 184,229,606(+) CAGTC(A/C/G/T)CGAAC upstream-variant-2KB, utr-variant-5-prime
rs729377 -- 184,233,347(-) GGCGG(A/G)GCCAG reference, synonymous-codon, utr-variant-5-prime
rs843333 -- 184,239,307(+) TCAGA(A/C)AAGGG intron-variant
rs843334 -- 184,237,321(+) ACCCC(C/T)CGGGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for VWA5B2 Gene

Variant ID Type Subtype PubMed ID
nsv829812 CNV Loss 17160897
nsv878057 CNV Loss 21882294
dgv5354n71 CNV Loss 21882294
nsv878060 CNV Loss 21882294
nsv528639 CNV Loss 19592680

Variation tolerance for VWA5B2 Gene

Gene Damage Index Score: 12.76; 94.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWA5B2 Gene

HapMap Linkage Disequilibrium report
VWA5B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA5B2 Gene

Disorders for VWA5B2 Gene

Relevant External Links for VWA5B2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA5B2
genes like me logo Genes that share disorders with VWA5B2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWA5B2 Gene

Publications for VWA5B2 Gene

  1. A protein interaction framework for human mRNA degradation. (PMID: 15231747) Lehner B. … Sanderson C.M. (Genome Res. 2004) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A mega-analysis of genome-wide association studies for major depressive disorder. (PMID: 22472876) . … Sullivan P.F. (Mol. Psychiatry 2013) 67
  4. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 67
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 67

Products for VWA5B2 Gene

Sources for VWA5B2 Gene

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