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Aliases for VWA7 Gene

Aliases for VWA7 Gene

  • Von Willebrand Factor A Domain Containing 7 2 3 5
  • Protein G7c 3 4
  • C6orf27 3 4
  • NG37 3 4
  • G7c 3 4
  • Von Willebrand Factor A Domain-Containing Protein 7 3
  • Chromosome 6 Open Reading Frame 27 2

External Ids for VWA7 Gene

Previous HGNC Symbols for VWA7 Gene

  • C6orf27

Previous GeneCards Identifiers for VWA7 Gene

  • GC06M031740
  • GC06M031766
  • GC06M031771
  • GC06M031822
  • GC06M031872
  • GC06M031901

Summaries for VWA7 Gene

GeneCards Summary for VWA7 Gene

VWA7 (Von Willebrand Factor A Domain Containing 7) is a Protein Coding gene. Diseases associated with VWA7 include Orchitis.

Additional gene information for VWA7 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 VWA7 Gene

Genomics for VWA7 Gene

GeneHancer (GH) Regulatory Elements for VWA7 Gene

Promoters and enhancers for VWA7 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
GH06I031774 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 559.9 +0.5 525 3.8 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF263 SP3 VWA7 GTF2H4 DXO PPT2 EGFL8 ZBTB12 PRRC2A PRRT1 NFKBIL1 C4A
GH06I031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.1 -48.5 -48545 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032039 ATF6B DDX39B LY6G5B LSM2 BAG6
GH06I031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 +39.9 39876 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 DDX39B LY6G5B ATF6B LSM2 CSNK2B SKIV2L GPANK1 BAG6
GH06I031773 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.7 +4.3 4330 0.4 HDGF CLOCK ATF1 ARID4B SIN3A ZNF2 ZNF48 YY1 ARID2 ATF7 VWA7 SAPCD1-AS1
GH06I031805 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 -29.5 -29470 2 HDGF FOXA2 PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 LSM2 MSH5 ATF6B LY6G5B DDX39B SKIV2L PBX2 CSNK2B RPL3P2 VARS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VWA7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for VWA7 Gene

Genomic Locations for VWA7 Gene
chr6:31,765,401-31,777,331
(GRCh38/hg38)
Size:
11,931 bases
Orientation:
Minus strand
chr6:31,733,367-31,745,108
(GRCh37/hg19)

Genomic View for VWA7 Gene

Genes around VWA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for VWA7 Gene

  • Protein details for VWA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y334-VWA7_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 7
    Protein Accession:
    Q9Y334
    Secondary Accessions:
    • A2BEX8
    • A6NHR6
    • B0V041
    • Q5SSR5
    • Q96QC8
    • Q9UMP9

    Protein attributes for VWA7 Gene

    Size:
    891 amino acids
    Molecular mass:
    96060 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Found in the major hispocompatibility complex class III region. May be implicated in susceptibility to lung tumors.
    SequenceCaution:
    • Sequence=CAB52192.1; Type=Frameshift; Positions=553, 559, 783; Evidence={ECO:0000305};

    Alternative splice isoforms for VWA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA7 Gene

Post-translational modifications for VWA7 Gene

  • Glycosylation at posLast=5555 and posLast=781781

Other Protein References for VWA7 Gene

No data available for DME Specific Peptides for VWA7 Gene

Domains & Families for VWA7 Gene

Gene Families for VWA7 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for VWA7 Gene

Suggested Antigen Peptide Sequences for VWA7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with VWA7: view

No data available for UniProtKB/Swiss-Prot for VWA7 Gene

Function for VWA7 Gene

Phenotypes From GWAS Catalog for VWA7 Gene

Gene Ontology (GO) - Molecular Function for VWA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with VWA7: view
genes like me logo Genes that share phenotypes with VWA7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VWA7 Gene

Localization for VWA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA7 Gene

Secreted.

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 VWA7 gene
Compartment Confidence
extracellular 4
plasma membrane 2
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VWA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with VWA7: view

Pathways & Interactions for VWA7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VWA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with VWA7: view

No data available for Pathways by source and SIGNOR curated interactions for VWA7 Gene

Drugs & Compounds for VWA7 Gene

No Compound Related Data Available

Transcripts for VWA7 Gene

Unigene Clusters for VWA7 Gene

Von Willebrand factor A domain containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWA7 Gene

No ASD Table

Relevant External Links for VWA7 Gene

GeneLoc Exon Structure for
VWA7
ECgene alternative splicing isoforms for
VWA7

Expression for VWA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VWA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWA7 Gene

This gene is overexpressed in Pituitary (x10.2).

Protein differential expression in normal tissues from HIPED for VWA7 Gene

This gene is overexpressed in Platelet (44.3) and Heart (24.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for VWA7 Gene



Protein tissue co-expression partners for VWA7 Gene

NURSA nuclear receptor signaling pathways regulating expression of VWA7 Gene:

VWA7

SOURCE GeneReport for Unigene cluster for VWA7 Gene:

Hs.558553

mRNA Expression by UniProt/SwissProt for VWA7 Gene:

Q9Y334-VWA7_HUMAN
Tissue specificity: Expressed at low level in different cell lines.
genes like me logo Genes that share expression patterns with VWA7: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWA7 Gene

Orthologs for VWA7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA7 33 34
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia VWA7 33 34
  • 86.23 (n)
dog
(Canis familiaris)
Mammalia VWA7 33 34
  • 85.68 (n)
mouse
(Mus musculus)
Mammalia Vwa7 33 16 34
  • 83.26 (n)
rat
(Rattus norvegicus)
Mammalia Vwa7 33
  • 82.45 (n)
oppossum
(Monodelphis domestica)
Mammalia VWA7 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA7 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VWA7 34
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa7 33
  • 52.6 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-235d11.1 33
  • 50.15 (n)
VWA7 34
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToOne
Species where no ortholog for VWA7 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)
  • chicken (Gallus gallus)
  • 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)

Evolution for VWA7 Gene

ENSEMBL:
Gene Tree for VWA7 (if available)
TreeFam:
Gene Tree for VWA7 (if available)

Paralogs for VWA7 Gene

No data available for Paralogs for VWA7 Gene

Variants for VWA7 Gene

Sequence variations from dbSNP and Humsavar for VWA7 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs6905572 benign, not specified 31,764,104(-) C/G/T downstream_transcript_variant
rs1000014439 -- 31,776,089(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000115349 -- 31,774,472(-) A/G intron_variant
rs1000703950 -- 31,772,891(-) G/A intron_variant
rs1001172379 -- 31,773,188(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for VWA7 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
esv2763547 CNV loss 21179565
esv3370799 CNV duplication 20981092
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv601943 CNV loss 21841781

Variation tolerance for VWA7 Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.57; 72.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VWA7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA7 Gene

Disorders for VWA7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for VWA7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orchitis
  • inflammation of testis
- elite association - COSMIC cancer census association via MalaCards
Search VWA7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VWA7

genes like me logo Genes that share disorders with VWA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VWA7 Gene

Publications for VWA7 Gene

  1. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  2. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PMID: 14656967) Xie T … Hood L (Genome research 2003) 3 4 58
  3. G7c, a novel gene in the mouse and human major histocompatibility complex class III region, possibly controlling lung tumor susceptibility. (PMID: 10803853) Snoek M … Campbell RD (Immunogenetics 2000) 3 4 58
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 58
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 58

Products for VWA7 Gene

Sources for VWA7 Gene

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