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Aliases for VWA5A Gene

Aliases for VWA5A Gene

  • Von Willebrand Factor A Domain Containing 5A 2 3
  • LOH11CR2A 3 4 6
  • BCSC1 3 4 6
  • Loss Of Heterozygosity 11 Chromosomal Region 2 Gene A Protein 3 4
  • Loss Of Heterozygosity, 11, Chromosomal Region 2, Gene A 2 3
  • Breast Cancer Suppressor Candidate 1 3 4
  • BCSC-1 3 4
  • Von Willebrand Factor A Domain-Containing Protein 5A 3
  • Ortholog Of Mouse AW551984 3

External Ids for VWA5A Gene

Previous HGNC Symbols for VWA5A Gene

  • LOH11CR2A

Previous GeneCards Identifiers for VWA5A Gene

  • GC11P123492
  • GC11P123987
  • GC11P119926

Summaries for VWA5A Gene

GeneCards Summary for VWA5A Gene

VWA5A (Von Willebrand Factor A Domain Containing 5A) is a Protein Coding gene. Diseases associated with VWA5A include breast cancer. An important paralog of this gene is VWA5B1.

UniProtKB/Swiss-Prot for VWA5A Gene

  • May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA5A Gene

Genomics for VWA5A Gene

Regulatory Elements for VWA5A Gene

Genomic Location for VWA5A Gene

Start:
124,115,362 bp from pter
End:
124,147,721 bp from pter
Size:
32,360 bases
Orientation:
Plus strand

Genomic View for VWA5A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VWA5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA5A Gene

Proteins for VWA5A Gene

  • Protein details for VWA5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00534-VMA5A_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 5A
    Protein Accession:
    O00534
    Secondary Accessions:
    • Q6UN19
    • Q6UN20
    • Q9BVF8

    Protein attributes for VWA5A Gene

    Size:
    786 amino acids
    Molecular mass:
    86489 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VWA5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA5A Gene

Proteomics data for VWA5A Gene at MOPED

Post-translational modifications for VWA5A Gene

  • Ubiquitination at Lys621
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA5A Gene

No data available for DME Specific Peptides for VWA5A Gene

Domains for VWA5A Gene

Protein Domains for VWA5A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O00534

UniProtKB/Swiss-Prot:

VMA5A_HUMAN :
  • O00534
Domain:
  • Contains 1 VIT domain.
  • Contains 1 VWFA domain.
genes like me logo Genes that share domains with VWA5A: view

No data available for Gene Families for VWA5A Gene

Function for VWA5A Gene

Molecular function for VWA5A Gene

UniProtKB/Swiss-Prot Function: May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for VWA5A Gene

Localization for VWA5A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWA5A Gene COMPARTMENTS Subcellular localization image for VWA5A gene
Compartment Confidence
nucleus 4
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for VWA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with VWA5A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for VWA5A Gene

Pathways for VWA5A Gene

SuperPathways for VWA5A Gene

No Data Available

Interacting Proteins for VWA5A Gene

STRING Interaction Network Preview (showing 2 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.ENSP00000376504%0d%0a9606.ENSP00000289429%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000376504 for VWA5A Gene via STRING

Gene Ontology (GO) - Biological Process for VWA5A Gene

None

No data available for Pathways by source for VWA5A Gene

Transcripts for VWA5A Gene

Unigene Clusters for VWA5A Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VWA5A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWA5A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: -
SP8:

Relevant External Links for VWA5A Gene

GeneLoc Exon Structure for
VWA5A
ECgene alternative splicing isoforms for
VWA5A

Expression for VWA5A Gene

mRNA expression in normal human tissues for VWA5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VWA5A Gene

SOURCE GeneReport for Unigene cluster for VWA5A Gene Hs.152944

mRNA Expression by UniProt/SwissProt for VWA5A Gene

O00534-VMA5A_HUMAN
Tissue specificity: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested.
genes like me logo Genes that share expressions with VWA5A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for VWA5A Gene

Orthologs for VWA5A Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA5A 35
  • 99.32 (n)
  • 98.85 (a)
VWA5A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VWA5A 35
  • 79.28 (n)
  • 71.81 (a)
VWA5A 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA5A 35
  • 79.17 (n)
  • 71.57 (a)
VWA5A 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AW551984 36
  • 63 (a)
OneToMany
Vwa5a 35
  • 74.86 (n)
  • 69.53 (a)
Vwa5a 16
Vwa5a 36
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia VWA5A 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Vwa5a 35
  • 75.01 (n)
  • 68.71 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 31 (a)
OneToMany
-- 36
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68953 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734291 35
  • 60.29 (n)
  • 54.29 (a)
zebrafish
(Danio rerio)
Actinopterygii CU459204.1 36
  • 41 (a)
OneToMany
LOC100535191 35
  • 54.33 (n)
  • 47.85 (a)
VWA5A (1 of 5) 36
  • 43 (a)
OneToMany
VWA5A (2 of 5) 36
  • 38 (a)
OneToMany
VWA5A (3 of 5) 36
  • 48 (a)
OneToMany
VWA5A (5 of 5) 36
  • 47 (a)
OneToMany
Species with no ortholog for VWA5A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 VWA5A Gene

ENSEMBL:
Gene Tree for VWA5A (if available)
TreeFam:
Gene Tree for VWA5A (if available)

Paralogs for VWA5A Gene

Paralogs for VWA5A Gene

genes like me logo Genes that share paralogs with VWA5A: view

Variants for VWA5A Gene

Sequence variations from dbSNP and Humsavar for VWA5A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs10512 -- 124,146,700(+) AGTGC(A/T)GTAAA utr-variant-3-prime
rs11440 -- 124,146,856(+) CTGTC(C/G)CTTAA utr-variant-3-prime
rs880321 -- 124,123,301(+) TCGAT(C/T)GACAG intron-variant
rs1056615 -- 124,145,287(-) TTGCT(A/G)TGCAG reference, synonymous-codon
rs1939849 -- 124,113,959(+) CATCT(A/T)TATCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for VWA5A Gene

Variant ID Type Subtype PubMed ID
dgv82n21 CNV Gain 19592680
nsv898435 CNV Gain 21882294

Relevant External Links for VWA5A Gene

HapMap Linkage Disequilibrium report
VWA5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA5A Gene

Disorders for VWA5A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for VWA5A Gene including...

Search for VWA5A Gene in MalaCards »

Relevant External Links for VWA5A

Genetic Association Database (GAD)
VWA5A
genes like me logo Genes that share disorders with VWA5A: view

No data available for UniProtKB/Swiss-Prot for VWA5A Gene

Publications for VWA5A Gene

  1. The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor suppressor gene. (PMID: 14504409) Martin E.S. … Croce C.M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4
  2. Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23. (PMID: 9417908) Monaco C. … Croce C.M. (Genomics 1997) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. A genome-wide association study of aging. (PMID: 21782286) Walter S. … Franceschini N. (Neurobiol. Aging 2011) 3 48
  5. Frequent alterations of LOH11CR2A, PIG8 and CHEK1 genes at chromosomal 11q24.1-24.2 region in breast carcinoma: clinical and prognostic implications. (PMID: 21803008) Sinha S. … Panda C.K. (Mol Oncol 2011) 3

Products for VWA5A Gene

Sources for VWA5A Gene

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