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Aliases for VWA3B Gene

Aliases for VWA3B Gene

  • Von Willebrand Factor A Domain Containing 3B 2 3 5
  • VWA Domain-Containing Protein 3B 3 4
  • Von Willebrand Factor A Domain-Containing Protein 3B 3
  • SCAR22 3

External Ids for VWA3B Gene

Previous GeneCards Identifiers for VWA3B Gene

  • GC02P098703
  • GC02P092468

Summaries for VWA3B Gene

Entrez Gene Summary for VWA3B Gene

  • This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]

GeneCards Summary for VWA3B Gene

VWA3B (Von Willebrand Factor A Domain Containing 3B) is a Protein Coding gene. Diseases associated with VWA3B include Spinocerebellar Ataxia, Autosomal Recessive, 22. An important paralog of this gene is VWA3A.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA3B Gene

Genomics for VWA3B Gene

Regulatory Elements for VWA3B Gene

Enhancers for VWA3B 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
GH02G098010 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -74.9 -74935 4.0 ELF3 HDGF PKNOX1 FOXA2 TBL1XR1 WRNIP1 BMI1 ZNF366 ZNF143 RELB VWA3B LINC01125 ZAP70 TMEM131 LOC105373501
GH02G098178 1 ENCODE 16.5 +92.2 92158 1.6 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 FOS SP5 NFYC MXD4 VWA3B LOC105373502 LIPT1 ATP5BP1
GH02G098026 1.4 Ensembl ENCODE dbSUPER 11.3 -59.6 -59562 3.0 TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 CBX5 RELB ETV6 IKZF2 CREM UNC50 ANKRD36B TMEM131 VWA3B LOC100506123 ENSG00000278766 LOC105373501
GH02G098206 0.7 FANTOM5 18.5 +119.5 119491 0.3 CTCF SMC3 RBBP5 RAD21 EZH2 VWA3B ATP5BP1 GC02P098257
GH02G097966 1.3 Ensembl ENCODE dbSUPER 9.6 -120.2 -120152 0.3 FOXA2 BACH1 BMI1 ARID3A EED FOS ETV6 IKZF2 CREM SRF TMEM131 RNU7-96P VWA3B LINC01125
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWA3B on UCSC Golden Path with GeneCards custom track

Promoters for VWA3B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120426 -116 401 SIN3A BMI1 RCOR1 EGR2 SP3 YY2 ZNF623 ZFP69B CBX8 ZNF24

Genomic Location for VWA3B Gene

Chromosome:
2
Start:
98,087,116 bp from pter
End:
98,330,681 bp from pter
Size:
243,566 bases
Orientation:
Plus strand

Genomic View for VWA3B Gene

Genes around VWA3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA3B Gene

Proteins for VWA3B Gene

  • Protein details for VWA3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q502W6-VWA3B_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 3B
    Protein Accession:
    Q502W6
    Secondary Accessions:
    • B9EK71
    • Q86T73
    • Q8N2D0
    • Q8N770
    • Q8NA79
    • Q8ND63
    • Q8ND65
    • Q8WW02

    Protein attributes for VWA3B Gene

    Size:
    1294 amino acids
    Molecular mass:
    145748 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04047.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD89964.1; Type=Frameshift; Positions=1071, 1087, 1110, 1147, 1153, 1195, 1207; Evidence={ECO:0000305};

    Alternative splice isoforms for VWA3B Gene

neXtProt entry for VWA3B Gene

Post-translational modifications for VWA3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for VWA3B Gene

Domains & Families for VWA3B Gene

Protein Domains for VWA3B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with VWA3B: view

No data available for Gene Families and UniProtKB/Swiss-Prot for VWA3B Gene

Function for VWA3B Gene

genes like me logo Genes that share phenotypes with VWA3B: view

Animal Model Products

CRISPR Products

Inhibitory RNA 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 VWA3B Gene

Localization for VWA3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA3B Gene

Cytoplasm.

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 VWA3B gene
Compartment Confidence
nucleus 3
plasma membrane 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for VWA3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with VWA3B: view

Pathways & Interactions for VWA3B Gene

SuperPathways for VWA3B Gene

No Data Available

Interacting Proteins for VWA3B Gene

Gene Ontology (GO) - Biological Process for VWA3B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for VWA3B Gene

Drugs & Compounds for VWA3B Gene

No Compound Related Data Available

Transcripts for VWA3B Gene

Unigene Clusters for VWA3B Gene

Von Willebrand factor A domain containing 3B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWA3B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - -
SP5:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b
SP1:
SP2: -
SP3: -
SP4: -
SP5:

Relevant External Links for VWA3B Gene

GeneLoc Exon Structure for
VWA3B
ECgene alternative splicing isoforms for
VWA3B

Expression for VWA3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VWA3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWA3B Gene

This gene is overexpressed in Testis (x34.6).

Protein differential expression in normal tissues from HIPED for VWA3B Gene

This gene is overexpressed in Plasma (42.5) and Platelet (23.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VWA3B Gene



Protein tissue co-expression partners for VWA3B Gene

NURSA nuclear receptor signaling pathways regulating expression of VWA3B Gene:

VWA3B

SOURCE GeneReport for Unigene cluster for VWA3B Gene:

Hs.269977

Evidence on tissue expression from TISSUES for VWA3B Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with VWA3B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWA3B Gene

Orthologs for VWA3B Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA3B 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia VWA3B 34 35
  • 85.85 (n)
cow
(Bos Taurus)
Mammalia VWA3B 34 35
  • 84.17 (n)
mouse
(Mus musculus)
Mammalia Vwa3b 34 16 35 35
  • 79.02 (n)
rat
(Rattus norvegicus)
Mammalia Vwa3b 34
  • 78.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA3B 35
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWA3B 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA3B 34 35
  • 62.25 (n)
lizard
(Anolis carolinensis)
Reptilia VWA3B 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa3b 34
  • 57.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for VWA3B 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for VWA3B Gene

ENSEMBL:
Gene Tree for VWA3B (if available)
TreeFam:
Gene Tree for VWA3B (if available)

Paralogs for VWA3B Gene

Paralogs for VWA3B Gene

genes like me logo Genes that share paralogs with VWA3B: view

Variants for VWA3B Gene

Sequence variations from dbSNP and Humsavar for VWA3B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_075091 Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) [MIM:616948]
rs876657414 Pathogenic 98,217,874(+) GGTCA(A/C)ACGTT nc-transcript-variant, reference, missense
rs1000012104 -- 98,271,586(+) ATATG(A/G)GTGAT intron-variant
rs1000026034 -- 98,188,231(+) ATAAT(A/G)ATTGT intron-variant
rs1000065826 -- 98,180,464(+) TGGGA(G/T)TATTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for VWA3B Gene

Variant ID Type Subtype PubMed ID
dgv222n21 CNV gain 19592680
dgv4027n100 CNV gain 25217958
dgv4028n100 CNV loss 25217958
dgv4029n100 CNV loss 25217958
dgv6974n54 CNV loss 21841781
esv24326 CNV loss 19812545
esv2672637 CNV deletion 23128226
esv2674476 CNV deletion 23128226
esv2720429 CNV deletion 23290073
esv2760564 CNV loss 21179565
esv3575286 CNV gain 25503493
esv3591723 CNV loss 21293372
esv3591724 CNV loss 21293372
esv3591725 CNV loss 21293372
esv6339 CNV gain 19470904
nsv1002366 CNV gain 25217958
nsv1008152 CNV loss 25217958
nsv10105 CNV loss 18304495
nsv1013728 CNV gain 25217958
nsv1143946 CNV deletion 24896259
nsv437289 CNV loss 16327808
nsv438363 CNV loss 16468122
nsv473302 CNV novel sequence insertion 20440878
nsv517669 CNV loss 19592680
nsv518056 CNV gain 19592680
nsv527817 CNV loss 19592680
nsv582515 CNV loss 21841781
nsv818075 CNV loss 17921354
nsv834309 CNV gain 17160897
nsv953492 CNV duplication 24416366
nsv963671 CNV duplication 23825009
nsv999736 CNV loss 25217958

Variation tolerance for VWA3B Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.72; 83.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWA3B Gene

Human Gene Mutation Database (HGMD)
VWA3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA3B Gene

Disorders for VWA3B Gene

MalaCards: The human disease database

(1) MalaCards diseases for VWA3B Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive, 22
  • scar22
- elite association - COSMIC cancer census association via MalaCards
Search VWA3B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VWA3B_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) [MIM:616948]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia. {ECO:0000269 PubMed:26157035}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for VWA3B

Genetic Association Database (GAD)
VWA3B
Human Genome Epidemiology (HuGE) Navigator
VWA3B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA3B
genes like me logo Genes that share disorders with VWA3B: view

No data available for Genatlas for VWA3B Gene

Publications for VWA3B Gene

  1. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. (PMID: 26157035) Kawarai T. … Kaji R. (J. Neurol. Neurosurg. Psych. 2015) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  5. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. (PMID: 26566883) Rafiullah R. … Berkel S. (J. Med. Genet. 2015) 4 64

Products for VWA3B Gene

Sources for VWA3B Gene

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