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

VWC2L Gene

protein-coding   GIFtS: 38
GCID: GC02P215275

von Willebrand factor C domain containing protein 2-like

(Previous name: von Willebrand factor C domain-containing protein 2-like...)
 Explore 2 diseases affiliated with
VWC2L via our new
 Human Malady Compendium 
Biological research products
for VWC2L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Von Willebrand Factor C Domain Containing Protein 2-Like1 2
Von Willebrand Factor C Domain-Containing Protein 2-Like1 2
Brorin-Like1
Brorin-Like1

External Ids:    HGNC: 372031   Entrez Gene: 4021172   Ensembl: ENSG000001744537   UniProtKB: B2RUY73   

Export aliases for VWC2L gene to outside databases

Previous GC identifers: GC02P214985 GC02P207132


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

UniProtKB/Swiss-Prot: VWC2L_HUMAN, B2RUY7
Function: May play a role in neurogenesis (By similarity). May play a role in bone differentiation and matrix
mineralization (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VWC2L gene promoter:
         SRF   Bach1   SRF (504 AA)   RORalpha1   AREB6   MEF-2A   Pax-3   Zic1   aMEF-2   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for VWC2L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWC2L


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

Entrez Gene cytogenetic band: 2q34-q35   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q34-q35

VWC2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWC2L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P215275:  view genomic region     (about GC identifiers)

Start:
215,275,789 bp from pter      End:
215,443,683 bp from pter
Size:
167,895 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: VWC2L_HUMAN, B2RUY7 (See protein sequence)
Recommended Name: von Willebrand factor C domain-containing protein 2-like precursor  
Size: 222 amino acids; 24570 Da
Subunit: Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming
GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One
of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors
CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents
binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core
constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of
the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including
VWC2L. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and
profoundly impact their biogenesis and protein processing (By similarity)
Subcellular location: Secreted (By similarity). Cell junction, synapse (By similarity)
Secondary accessions: A6NC69 B2RUW7 B7X8X1
Alternative splicing: 2 isoforms:  B2RUY7-1   B2RUY7-2   

Explore the universe of human proteins at neXtProt for VWC2L: NX_B2RUY7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_B2RUY7

  • VWC2L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073969.1  
    ENSEMBL proteins: 
     ENSP00000308976   ENSP00000403779  

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    Uscn Proteins for VWC2L

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--


    VWC2L for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    VWC2L for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001007 VWF_C

    Graphical View of Domain Structure for InterPro Entry B2RUY7

    ProtoNet protein and cluster: B2RUY7

    UniProtKB/Swiss-Prot: VWC2L_HUMAN, B2RUY7
    Similarity: Contains 2 VWFC domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: VWC2L_HUMAN, B2RUY7
    Function: May play a role in neurogenesis (By similarity). May play a role in bone differentiation and matrix
    mineralization (By similarity)

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    1 GenomeRNAi human phenotype for VWC2L:
     Decreased p24 protein expressi 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VWC2L

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030514negative regulation of BMP signaling pathway IEA--
    GO:0045666positive regulation of neuron differentiation IEA--


    VWC2L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for VWC2L
    Search CenterWatch for drugs/clinical trials and news about VWC2L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for VWC2L gene: 
    NM_001080500.2  

    Unigene Cluster for VWC2L:

    Von Willebrand factor C domain containing protein 2-like
    Hs.534834  [show with all ESTs]
    Unigene Representative Sequence: NM_001080500
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312504(uc002vet.2) ENST00000427124(uc010zjl.1) ENST00000477752


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB374231.1 BC146903.1 BC146911.1 BC146931.1 BC146935.1 BC171841.1 EF552207.1 EU541473.1 

    1 DOTS entry:

    DT.120940757 

    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

    VWC2L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTAACACAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See VWC2L Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.534834
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWC2L

    (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 VWC2L gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwc2l1 , 5 von Willebrand factor C domain-containing protein 2-like1, 5 94.74(n)1
    98.65(a)1
      1 (35.46 cM)5
    3204601  NM_177164.31  NP_796138.21 
     707257155 
    chicken
    (Gallus gallus)
    Aves VWC2L1 von Willebrand factor C domain containing protein 2-like 87.39(n)
    95.5(a)
      428995  XM_426552.2  XP_426552.2 
    lizard
    (Anolis carolinensis)
    Reptilia VWC2L6
    --
    86(a)
    1 ↔ 1
    1(116178082-116179273)
    zebrafish
    (Danio rerio)
    Actinopterygii vwc2l1 von Willebrand factor C domain-containing protein 2-like 74.21(n)
    81.6(a)
      100148652  NM_001128564.1  NP_001122036.1 


    ENSEMBL Gene Tree for VWC2L (if available)
    TreeFam Gene Tree for VWC2L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWC2L gene
    VWC22  
    1 SIMAP similar gene for VWC2L using alignment to 2 protein entries:     VWC2L_HUMAN (see all proteins):
    VWC2

    VWC2L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2709 NCBI SNPs in VWC2L are shown (see all 2709    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469841751,2
    --215276156(+) TCAGCC/TGGGAA 1 -- us2k10--------
    rs1926720721,2
    --215276215(+) TCTGCG/TACTGG 1 -- us2k10--------
    rs1846369281,2
    --215276331(+) GGGAGA/TCTGCT 1 -- us2k10--------
    rs1882528791,2
    --215276387(+) TTAATC/TCATGC 1 -- us2k10--------
    rs1807503481,2
    --215276391(+) TTCATA/GCCTAA 1 -- us2k10--------
    rs1380710551,2
    --215276482(+) CCCTAC/TCACCA 1 -- ut510--------
    rs129968801,2
    C--215276510(+) GATTAG/TGTAAG 1 -- ut510--------
    rs2009486921,2
    --215276749(+) AAGGC-/TTTTTT 1 -- int10--------
    rs1849569751,2
    --215276757(+) TTTTTA/TAAAAA 1 -- int10--------
    rs2019210521,2
    --215276757(+) TTTTT-/AAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for VWC2L (215275789 - 215443683 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for VWC2L
         1 CNV: 39277

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    VWC2L for disorders           About GeneDecksing

    2 diseases for VWC2L:    About MalaCards
    conduct disorder    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: VWC2L (3 documents)

    Export disorders for VWC2L 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 VWC2L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with VWC2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Modulation of matrix mineralization by Vwc2-like prote in and its novel splicing isoforms. (PubMed id 22209847)1 Ohyama Y....Mochida Y. (2012)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    3. Evidence for genes on chromosome 2 contributing to al cohol dependence with conduct disorder and suicide attempts. (PubMed id 20468071)1 Dick D.M....Bierut L. (2010)
    4. A novel neural-specific BMP antagonist, Brorin-like, of the Chordin family. (PubMed id 19852960)2 Miwa H....Itoh N. (2009)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. 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)

    (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: 402117 HGNC: 37203 Ensembl:ENSG00000174453 euGenes: HUgn402117 ECgene: VWC2L
    H-InvDB: VWC2L

    (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 VWC2L 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 VWC2L gene:
    Search GeneIP for patents involving VWC2L

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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