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Aliases for VWA5A Gene

Aliases for VWA5A Gene

  • Von Willebrand Factor A Domain Containing 5A 2 3 5
  • 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
  • LOH11CR2A 3 4
  • BCSC-1 3 4
  • BCSC1 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. 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.

Additional gene information for VWA5A Gene

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

Genomics for VWA5A Gene

GeneHancer (GH) Regulatory Elements for VWA5A Gene

Promoters and enhancers for VWA5A 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
GH11J123740 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 650.1 -373.3 -373289 3.8 HNRNPUL1 PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF202 VWA5A CLMP OR6X1 OR10G7 OR6M1 OR10G4 OR8G2P OR4D5 TMEM225
GH11J124114 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 658 +0.3 312 2.1 SMAD1 ATF1 ARNT ARID4B SIN3A NCOA2 YY1 POLR2B GATA2 ELK1 VWA5A GC11M124091
GH11J124113 Enhancer 0.7 FANTOM5 Ensembl ENCODE 679.5 -1.3 -1339 0.8 POLR2A VWA5A OR8G5 OR10N1P GC11M124091
GH11J124078 Enhancer 1.2 FANTOM5 ENCODE 72.9 -35.3 -35312 3.3 HDGF PKNOX1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 CAVIN1 VWA5A ZNF202 SPA17 OR8G2P OR8B12 OR8D1 OR8A1 LOC105369545 GC11M124060
GH11J124275 Enhancer 1.2 FANTOM5 ENCODE 43.2 +161.0 161039 1.3 PKNOX1 ATF1 ARNT NCOA2 TCF12 ZNF766 ATF7 CAVIN1 NCOA1 ZNF592 VWA5A OR8D1 OR8G5 OR8G2P TBRG1 OR8B12 SLC5A4P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VWA5A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the VWA5A gene promoter:
  • Gfi-1
  • HOXA5
  • PPAR-gamma2
  • PPAR-gamma1
  • Cart-1
  • Olf-1
  • FOXD3
  • C/EBPbeta
  • AREB6
  • LHX3b

Genomic Locations for VWA5A Gene

Genomic Locations for VWA5A Gene
chr11:124,115,362-124,147,721
(GRCh38/hg38)
Size:
32,360 bases
Orientation:
Plus strand
chr11:123,986,069-124,018,428
(GRCh37/hg19)
Size:
32,360 bases
Orientation:
Plus strand

Genomic View for VWA5A Gene

Genes around VWA5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for VWA5A Gene

  • Ubiquitination at posLast=621621
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA5A Gene

No data available for DME Specific Peptides for VWA5A Gene

Domains & Families for VWA5A Gene

Gene Families for VWA5A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for VWA5A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for VWA5A Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VWA5A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VWA5A Gene

Localization for VWA5A 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 VWA5A gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 & Interactions for VWA5A Gene

SuperPathways for VWA5A Gene

No Data Available

Interacting Proteins for VWA5A Gene

Gene Ontology (GO) - Biological Process for VWA5A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for VWA5A Gene

Drugs & Compounds for VWA5A Gene

No Compound Related Data Available

Transcripts for VWA5A Gene

mRNA/cDNA for VWA5A Gene

Unigene Clusters for VWA5A Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VWA5A

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for VWA5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VWA5A Gene

This gene is overexpressed in Stomach (11.0), Peripheral blood mononuclear cells (6.9), and Islet of Langerhans (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VWA5A Gene



Protein tissue co-expression partners for VWA5A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VWA5A Gene:

VWA5A

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.

Evidence on tissue expression from TISSUES for VWA5A Gene

  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with VWA5A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VWA5A 34 33
  • 79.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VWA5A 34 33
  • 79.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vwa5a 33
  • 75.01 (n)
mouse
(Mus musculus)
Mammalia Vwa5a 16 34 33
  • 74.86 (n)
AW551984 34
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia VWA5A 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 32 (a)
OneToMany
-- 34
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734291 33
  • 60.29 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68953 33
zebrafish
(Danio rerio)
Actinopterygii LOC100535191 33
  • 54.33 (n)
VWA5A (3 of 5) 34
  • 48 (a)
OneToMany
VWA5A (5 of 5) 34
  • 47 (a)
OneToMany
VWA5A (1 of 5) 34
  • 43 (a)
OneToMany
CU459204.1 34
  • 41 (a)
OneToMany
VWA5A (2 of 5) 34
  • 38 (a)
OneToMany
Species where no ortholog for VWA5A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for VWA5A: view image

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 Variation AA Info Type
rs1000027527 -- 124,119,780(+) A/T intron_variant
rs1000036042 -- 124,128,368(+) C/A genic_downstream_transcript_variant, intron_variant
rs1000095752 -- 124,127,930(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000155719 -- 124,137,610(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000176817 -- 124,145,861(+) C/T genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv82n21 CNV gain 19592680

Variation tolerance for VWA5A Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.49; 77.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VWA5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA5A

SNP Genotyping and Copy Number Assay Products

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

Disorders for VWA5A Gene

Additional Disease Information for VWA5A

No disorders were found for VWA5A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 ES … Croce CM (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 58
  2. Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23. (PMID: 9417908) Monaco C … Croce CM (Genomics 1997) 2 3 4 58
  3. A genome-wide association study of aging. (PMID: 21782286) Walter S … Franceschini N (Neurobiology of aging 2011) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for VWA5A Gene

Sources for VWA5A Gene

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