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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.

Additional gene information for VWA5B2 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for VWA5B2 Gene

Promoters and enhancers for VWA5B2 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
GH03I184228 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 566.2 +0.5 524 3 RB1 SIN3A RFX5 ZNF335 GLIS2 EGR1 SCRT2 EGR2 SP3 ZNF280D VWA5B2 ABCF3 MIR1224
GH03I184184 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.2 -43.5 -43491 3.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B ZNF766 ABCF3 VWA5B2 POLR2H EIF2B5 ALG3 ECE2 EEF1AKMT4 EEF1AKMT4-ECE2 MIR1224 CAMK2N2
GH03I184171 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 20.3 -54.4 -54426 8 HDGF ARID4B NEUROD1 SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF143 FOS AP2M1 VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 EEF1AKMT4 EEF1AKMT4-ECE2 ECE2 MIR1224
GH03I184133 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18 -94.4 -94350 3.1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 EIF2B5 ENSG00000273181 ENSG00000272721 LOC105374249 DVL3 VWA5B2 RPS3P3 POLR2H AP2M1 ABCC5-AS1
GH03I184261 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 16.9 +32.6 32600 2.4 ARID4B ZNF76 FEZF1 ZNF48 ZNF335 GLIS2 EGR1 ZNF366 SCRT2 ZNF391 CAMK2N2 VWA5B2 DVL3 RPS3P3 POLR2H EIF2B5 ECE2 EEF1AKMT4 EEF1AKMT4-ECE2 PSMD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VWA5B2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the VWA5B2 gene promoter:

Genomic Locations for VWA5B2 Gene

Genomic Locations for VWA5B2 Gene
chr3:184,229,588-184,242,330
(GRCh38/hg38)
Size:
12,743 bases
Orientation:
Plus strand
chr3:183,948,217-183,960,117
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for VWA5B2 Gene

No data available for DME Specific Peptides for VWA5B2 Gene

Domains & Families for VWA5B2 Gene

Gene Families for VWA5B2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for VWA5B2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWA5B2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 VWA5B2 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

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

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

(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

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 CGAP 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, PaxDb, 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia VWA5B2 33 34
  • 88.42 (n)
cow
(Bos Taurus)
Mammalia VWA5B2 33 34
  • 87.6 (n)
mouse
(Mus musculus)
Mammalia Vwa5b2 33 16 34
  • 84.29 (n)
rat
(Rattus norvegicus)
Mammalia Vwa5b2 33
  • 83.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA5B2 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA5B2 33 34
  • 60.45 (n)
lizard
(Anolis carolinensis)
Reptilia VWA5B2 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa5b2 33
  • 49.05 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882427 33
  • 50.48 (n)
vwa5b2 34
  • 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 Variation AA Info Type
rs186599528 uncertain-significance, Congenital disorder of glycosylation 184,242,362(+) G/A downstream_transcript_variant
rs370304622 uncertain-significance, Congenital disorder of glycosylation 184,242,821(+) G/A/C/T downstream_transcript_variant
rs706584 benign, likely-benign, not specified, Congenital disorder of glycosylation 184,242,464(+) A/C downstream_transcript_variant
rs761215928 uncertain-significance, Congenital disorder of glycosylation 184,242,675(+) A/G downstream_transcript_variant
rs776636517 uncertain-significance, Congenital disorder of glycosylation 184,242,449(+) G/A/C downstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 CM (Genome research 2004) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  4. A mega-analysis of genome-wide association studies for major depressive disorder. (PMID: 22472876) Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium … Sullivan PF (Molecular psychiatry 2013) 3 58
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58

Products for VWA5B2 Gene

Sources for VWA5B2 Gene

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