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Aliases for VWA5B2 Gene

Aliases for VWA5B2 Gene

  • Von Willebrand Factor A Domain Containing 5B2 2 3 5

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 VWA5B1.

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

Enhancers for VWA5B2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F184184 0.6 ENCODE 21.2 -43.5 -43491 3.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 VWA5B2 POLR2H ABCF3 EIF2B5 ALG3 ECE2 MIR1224 CAMK2N2 PSMD2 EIF4G1
GH03F184171 1 Ensembl ENCODE 20.3 -54.4 -54427 8.0 HDGF CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZNF263 MCM3 VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 ECE2 MIR1224 CAMK2N2 PARL AP2M1
GH03F184167 0.2 ENCODE 19.8 -60.8 -60754 2.7 BCOR CTCF ATF1 CREB3L1 ZNF175 RAD21 TEAD3 ZNF121 CTBP1 GATA2 VWA5B2 EIF2B5 ALG3 ECE2 CAMK2N2 MIR1224 HTR3C AP2M1 DVL3
GH03F184133 0.6 ENCODE 18 -94.4 -94351 3.1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 ZNF143 PARL VWA5B2 EEF1A1P8 POLR2H MAGEF1 HSP90AA5P AP2M1 ABCC5-AS1 ENSG00000273403 ABCC5
GH03F184261 1 FANTOM5 ENCODE 16.8 +32.7 32707 2.2 ZNF76 ARID4B FEZF1 ZNF48 GLIS2 EGR1 ZNF366 SCRT2 ZNF391 CREM VWA5B2 ECE2 CAMK2N2 PSMD2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around VWA5B2 on UCSC Golden Path with GeneCards custom track

Promoters for VWA5B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001855672 -88 601 SIN3A GLIS2 EGR2 ZNF280D SP3 ZEB2 TSHZ1 GLIS1 MYNN ZBTB26

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

Genes around VWA5B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA5B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for VWA5B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VWA5B2 Gene

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for VWA5B2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
nucleus 3
plasma membrane 3
cytosol 2
golgi apparatus 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: ENSP00000398688 Q8N398-VW5B2_HUMAN for VWA5B2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for VWA5B2 Gene

None

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

Transcripts for VWA5B2 Gene

mRNA/cDNA for VWA5B2 Gene

(7) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for VWA5B2 Gene



NURSA nuclear receptor signaling pathways regulating expression of VWA5B2 Gene:

VWA5B2

SOURCE GeneReport for Unigene cluster for VWA5B2 Gene:

Hs.584997
genes like me logo Genes that share expression patterns with VWA5B2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia VWA5B2 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia VWA5B2 34 35
  • 88.42 (n)
cow
(Bos Taurus)
Mammalia VWA5B2 34 35
  • 87.6 (n)
mouse
(Mus musculus)
Mammalia Vwa5b2 34 16 35
  • 84.29 (n)
rat
(Rattus norvegicus)
Mammalia Vwa5b2 34
  • 83.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA5B2 35
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA5B2 34 35
  • 60.45 (n)
lizard
(Anolis carolinensis)
Reptilia VWA5B2 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa5b2 34
  • 49.05 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882427 34
  • 50.48 (n)
vwa5b2 35
  • 37 (a)
OneToOne
Species where no ortholog for VWA5B2 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)
  • 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
rs706584 Benign 184,242,464(+) CAACC(A/C)ACCCC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs79144888 Benign 184,242,560(+) GCTGC(A/G)GGCCC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs111333385 -- 184,234,075(+) CTCTT(C/T)GACCA intron-variant
rs111465882 -- 184,238,715(+) CCACA(A/G)GCAGC reference, missense
rs111680358 -- 184,228,692(+) TTTTT(C/G)ACAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv472264 CNV novel sequence insertion 20440878
nsv528639 CNV loss 19592680
nsv592666 CNV loss 21841781
nsv829812 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for VWA5B2 Gene.

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 3 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. A mega-analysis of genome-wide association studies for major depressive disorder. (PMID: 22472876) . … Sullivan P.F. (Mol. Psychiatry 2013) 3 64
  4. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64

Products for VWA5B2 Gene

Sources for VWA5B2 Gene

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