VWA5A Gene (Protein Coding)

Von Willebrand Factor A Domain Containing 5A

GC11P124115
GIFtS:
34
See more...

Aliases for VWA5A Gene

Aliases for VWA5A Gene

  • Von Willebrand Factor A Domain Containing 5A 2 3 5
  • BCSC-1 2 3 4
  • Loss Of Heterozygosity 11 Chromosomal Region 2 Gene A Protein 3 4
  • Loss Of Heterozygosity, 11, Chromosomal Region 2, Gene A 2 3
  • Von Willebrand Factor A Domain-Containing Protein 5A 3 4
  • Breast Cancer Suppressor Candidate 1 3 4
  • LOH11CR2A 3 4
  • BCSC1 3 4
  • Ortholog Of Mouse AW551984 3
  • VWA5A 5

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 Brachydactyly, Type D and Granulomatous Disease, Chronic, Autosomal Recessive, 3. An important paralog of this gene is VWA5B1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for VWA5A Gene

Genomics for VWA5A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250 -373.6 -373608 4.4 BCLAF1 ZNF207 ZNF600 MYC NCOR1 POLR2A NFIC YY1 MXD4 REST ZNF202 lnc-ZNF202-1 lnc-GRAMD1B-6 VWA5A CLMP OR6X1 OR10G7 OR6M1 OR10G4 OR8G2P
GH11J124114 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 257.9 +0.4 406 2.4 NCOR1 JUND POLR2A YY1 REST ELK1 MBD2 IRF3 TBP SIN3A VWA5A HSALNG0087865 OR10D3
GH11J124113 Enhancer 0.5 FANTOM5 ENCODE 279.4 -1.4 -1381 0.8 POLR2A VWA5A OR8G5 OR10N1P OR10G7
GH11J124078 Enhancer 1.2 FANTOM5 ENCODE 73 -35.4 -35354 3.3 MYC NCOR1 IKZF1 ZNF592 NFIC HES1 BHLHE40 MBD2 MNT ARNT VWA5A ZNF202 SPA17 OR8G2P OR8B12 OR8D1 OR8A1 lnc-VWA5A-1 HSALNG0087864 OR10G7
GH11J124275 Enhancer 1.2 FANTOM5 Ensembl ENCODE 43.2 +161.6 161597 2.8 NCOR1 ZNF592 NFIC HES1 BHLHE40 MBD2 ARNT RAD21 TAL1 RUNX1 VWA5A OR8G5 OR8D1 CCDC15 OR8G2P TBRG1 OR8B12 SLC5A4P1 HSALNG0087874 lnc-OR8G5-6
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VWA5A

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

Genomic Locations for VWA5A Gene

Latest Assembly
chr11:124,115,404-124,147,721
(GRCh38/hg38)
Size:
32,318 bases
Orientation:
Plus strand

Previous Assembly
chr11:123,986,157-124,018,428
(GRCh37/hg19 by Entrez Gene)
Size:
32,272 bases
Orientation:
Plus strand

chr11:123,986,069-124,018,428
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for VWA5A Gene

Proteins for VWA5A Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for VWA5A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for VWA5A Gene

  • Ubiquitination at Lys621
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA5A Gene

ENSEMBL proteins:
REFSEQ proteins:

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:

Suggested Antigen Peptide Sequences for VWA5A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55206, highly similar to Loss of heterozygosity 11 chromosomal region 2 gene A protein (B4DHS6_HUMAN)
  • Loss of heterozygosity 11 chromosomal region 2 gene A protein (VMA5A_HUMAN)
genes like me logo Genes that share domains with VWA5A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VWA5A Gene

Function for VWA5A Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for VWA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with VWA5A: view
genes like me logo Genes that share phenotypes with VWA5A: view

Animal Models for research

Inhibitory RNAs for research

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

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VWA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
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

PathCards logo

SuperPathways for VWA5A Gene

No Data Available

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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for VWA5A Gene

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mRNA/cDNA for VWA5A Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Clone products for research

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

Expression for VWA5A Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VWA5A Gene

mRNA expression in normal human tissues for VWA5A Gene
mRNA expression by GTEx for VWA5A GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.7)
genes like me logo Genes that share expression patterns with VWA5A: view

Primer products for research

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 29 30
  • 99.32 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia VWA5A 29 30
  • 79.28 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VWA5A 29 30
  • 79.17 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Vwa5a 29
  • 75.01 (n)
Mouse
(Mus musculus)
 Mammalia Vwa5a 29 16 30
  • 74.86 (n)
 OneToMany
AW551984 30
  • 63 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 65 (a)
 OneToMany
-- 30
  • 59 (a)
 OneToMany
-- 30
  • 50 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia VWA5A 30
  • 55 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 30
  • 32 (a)
 OneToMany
-- 30
  • 31 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 45 (a)
 OneToMany
-- 30
  • 36 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101734291 29
  • 60.29 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC68953 29
Zebrafish
(Danio rerio)
 Actinopterygii LOC100535191 29
  • 54.33 (n)
VWA5A (3 of 5) 30
  • 48 (a)
 OneToMany
VWA5A (5 of 5) 30
  • 47 (a)
 OneToMany
VWA5A (1 of 5) 30
  • 43 (a)
 OneToMany
CU459204.1 30
  • 41 (a)
 OneToMany
VWA5A (2 of 5) 30
  • 38 (a)
 OneToMany
Species where no ortholog for VWA5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for VWA5A

Paralogs for VWA5A Gene

Paralogs for VWA5A Gene

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

Variants for VWA5A Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VWA5A Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs117689747 -- p.Arg757Cys
rs200614108 -- p.His759Arg
rs2276053 -- p.Arg506Lys
rs2276054 -- p.Ser499Ile
rs35215239 -- p.Glu205Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VWA5A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
VWA5A

SNP Genotyping and Copy Number Assays for research

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

Disorders for VWA5A Gene

MalaCards: The human disease database

(3) MalaCards diseases for VWA5A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
brachydactyly, type d
  • bdd
granulomatous disease, chronic, autosomal recessive, 3
  • cgd3
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search VWA5A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VWA5A

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VWA5A: view

No data available for 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
  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
  3. A genome-wide association study of aging. (PMID: 21782286) Walter S … Franceschini N (Neurobiology of aging 2011) 3 40
  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
  5. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. (PMID: 31900314) Chen Z … Chen J (Molecular & cellular proteomics : MCP 2020) 3

ExternalLinks

View latest publications for VWA5A gene in Mastermind

Products for VWA5A Gene

Sources for VWA5A Gene