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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VWA7 Gene

protein-coding   GIFtS: 37
GCID: GC06M031740

Von Willebrand Factor A Domain Containing 7

(Previous name: chromosome 6 open reading frame 27)
(Previous symbol: C6orf27)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Von Willebrand Factor A Domain Containing 71 2     G7C3 5
C6orf271 2 3 5     Chromosome 6 Open Reading Frame 271
Protein G7c2 3     G7c2
NG372 3     Von Willebrand Factor A Domain-Containing Protein 72

External Ids:    HGNC: 139391   Entrez Gene: 807372   Ensembl: ENSG000002043967   OMIM: 6096935   UniProtKB: Q9Y3343   

Export aliases for VWA7 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for VWA7 Gene: 
VWA7 (von Willebrand factor A domain containing 7) is a protein-coding gene. Diseases associated with VWA7 include systemic lupus erythematosus, and lupus erythematosus. GO annotations related to this gene include molecular_function.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167247.1  NT_167249.1  NC_018917.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for VWA7
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for VWA7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21

VWA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA7 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031740:  view genomic region     (about GC identifiers)

Start:
31,733,367 bp from pter      End:
31,745,108 bp from pter
Size:
11,742 bases      Orientation:
minus strand

5 alternative locations:
Chr6-,NT_167249 3,064,184-3,075,920      Chr6-,NT_167245 3,018,953-3,030,690      Chr6-,NT_167244 3,048,122-3,059,858     
Chr6-,NT_167247 3,113,068-3,124,805      Chr6-,NT_113891.2 3,242,958-3,254,679     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VWA7_HUMAN, Q9Y334 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 7 precursor  
Size: 891 amino acids; 96060 Da
Subcellular location: Secreted (Potential)
Miscellaneous: Found in the major hispocompatibility complex class III region. May be implicated in susceptibility
to lung tumors
Sequence caution: Sequence=CAB52192.1; Type=Frameshift; Positions=553, 559, 783;
Secondary accessions: A2BEX8 A6NHR6 B0V041 Q5SSR5 Q96QC8 Q9UMP9
Alternative splicing: 2 isoforms:  Q9Y334-1   Q9Y334-2   (Ref.1 (AAD21820) sequence is in conflict in position: 837:H->Y)

Explore the universe of human proteins at neXtProt for VWA7: NX_Q9Y334

Explore proteomics data for VWA7 at MOPED 

VWA7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

VWA7 Protein Expression

REFSEQ proteins: NP_079534.2  
ENSEMBL proteins: 
 ENSP00000364840   ENSP00000364838   ENSP00000390554  

Human Recombinant Protein Products for VWA7: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005576extracellular region IEA--

VWA7 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR002035 VWF_A

Graphical View of Domain Structure for InterPro Entry Q9Y334

ProtoNet protein and cluster: Q9Y334

1 Blocks protein domain: IPB002035 Von Willebrand factor type A domain signature

UniProtKB/Swiss-Prot: VWA7_HUMAN, Q9Y334
Similarity: Contains 1 VWFA domain


VWA7 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
VWA7 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for VWA7:
 Decreased Hepatitis C virus re 

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VWA7

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

VWA7 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for VWA7

Search CenterWatch for drugs/clinical trials and news about VWA7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for VWA7 gene: 
NM_025258.2  

Unigene Cluster for VWA7:

Von Willebrand factor A domain containing 7
Hs.558553  [show with all ESTs]
Unigene Representative Sequence: NM_025258
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375688 ENST00000486423 ENST00000467576 ENST00000487013 ENST00000497645
ENST00000375686(uc011dog.2 uc003nxd.2) ENST00000447450(uc011doh.1)

miRNA
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Inhib. RNA
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Clone
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                     Customized lentivirus expression plasmids for stable overexpression of VWA7 
Primer
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Additional mRNA sequence: 

AJ245418.1 AK304058.1 AK304266.1 BC114625.1 

3 DOTS entries:

DT.40217088  DT.91785732  DT.100016688 

20 AceView cDNA sequences:

NM_025258 BV181047 AJ245418 AA069495 BI711260 BI770580 BQ723157 BI711669 
CK820534 AA133560 BV183539 AK098390 BF855921 BF855920 CD632614 CD632613 
CD632616 CD632615 AA069267 AA757711 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

VWA7 expression in normal human tissues (normalized intensities)      VWA7 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTTCCTCCG
VWA7 Expression
About this image


VWA7 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Brain (Nervous System)
         Cerebellum

See VWA7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for VWA7

SOURCE GeneReport for Unigene cluster: Hs.558553

UniProtKB/Swiss-Prot: VWA7_HUMAN, Q9Y334
Tissue specificity: Expressed at low level in different cell lines

    SABiosciences Custom PCR Arrays for VWA7
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA7

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for VWA7 gene from 3/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Vwa71 , 5 DNA segment, Chr 17, human D6S56E 35
von Willebrand factor A domain containing 71
83.41(n)1
82.47(a)1
  17 (18.55 cM)5
277621  NM_138582.11  NP_613048.11 
 350165795 
lizard
(Anolis carolinensis)
Reptilia VWA76
--
(see all 4)
Uncharacterized protein
(see all 4)
38(a)
29(a)
(see all 4)
1 ↔ 1
possible ortholog
(see all 4)
GL343570.1(106605-156241)
2(195453696-195457559)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-235d11.11 si:ch73-235d11.1 47.74(n)
40.76(a)
  100034575  XM_003200478.1  XP_003200526.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/321 SNPs in VWA7 are shown (see all 321)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1135258641,2
C--31733186(+) ACTCCA/CGCCTG 1 -- ds50013Minor allele frequency- C:0.06WA NA 240
rs352981611,2
C--31733215(+) ATCTC-/A/AA  
        
AAAAA
1 -- ds50010--------
rs1830700481,2
--31733224(+) AAAAAA/GCAACA 1 -- ds50010--------
rs681050631,2
C--31733236(+) AACAA-/CAAAAAAG 2 -- ds5001 cds11Minor allele frequency- CAA:0.00NA 2
rs1874118771,2
--31733327(+) GGCAGA/GTTGAA 1 -- ds50010--------
rs1930424231,2
--31733364(+) GAGCCC/TGTTGT 1 -- ds50010--------
rs31010171,2,4
C,F--31733466(-) TGGTGA/GCTCAA 2 T A mis1 ese39Minor allele frequency- G:0.06NA NS CSA WA 422
rs283999971,2
C,F,H--31733544(+) GTGCCG/AGTCCT 2 /R /W mis1 ese312Minor allele frequency- A:0.00EA NS NA EU 5145
rs2009748551,2
F--31733600(+) AAATTA/GAACCT 1 -- int11Minor allele frequency- G:0.01EU 579
rs7079361,2
C,F,H--31733650(-) GGAACC/TACTAC 1 -- int1 ese337Minor allele frequency- T:0.11MN NS EA NA WA EU 4803

HapMap Linkage Disequilibrium report for VWA7 (31733367 - 31745108 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for VWA7: --
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing VWA7
DNA2.0 Custom Variant and Variant Library Synthesis for VWA7

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 609693    OMIM disorders: --

3 diseases for VWA7:    About MalaCards
systemic lupus erythematosus    lupus erythematosus    alzheimer's disease


VWA7 for disorders           About GeneDecksing


Export disorders for VWA7 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for VWA7 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with VWA7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  2. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (2003)
  3. G7c, a novel gene in the mouse and human major histocompatibility complex class III region, possibly controlling lung tumor susceptibility. (PubMed id 10803853)1, 2 Snoek M.... Campbell R.D. (2000)
  4. Refining the association of MHC with multiple scleros is in African Americans. (PubMed id 20466734)1 McElroy J.P....Gourraud P.A. (2010)
  5. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
  6. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (2009)
  7. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1 Chapuis J....Lambert J.C. (2009)
  8. Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. (PubMed id 19143814)1 Valdes A.M. and Thomson G. (2009)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  10. G7c in the lung tumor susceptibility (Lts) region of the Mhc class III region encodes a von Willebrand factor type A domain protein. (PubMed id 11261934)1 KumA!novics A. and Lindahl K.F. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 80737 HGNC: 13939 AceView: C6orf27 Ensembl:ENSG00000204396 euGenes: HUgn80737
ECgene: VWA7 H-InvDB: VWA7

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for VWA7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for VWA7 gene:
Search GeneIP for patents involving VWA7

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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