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VWC2L Gene

protein-coding   GIFtS: 37
GCID: GC02P215275

Von Willebrand Factor C Domain Containing Protein 2-Like

(Previous name: von Willebrand factor C domain-containing protein 2-like)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Von Willebrand Factor C Domain Containing Protein 2-Like1 2
Von Willebrand Factor C Domain-Containing Protein 2-Like1 2
brorin-like2
Brorin-like3

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for VWC2L Gene:
VWC2L (von Willebrand factor C domain containing protein 2-like) is a protein-coding gene. An important paralog of this gene is VWC2.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for VWC2L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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

Explore proteomics data for VWC2L at MOPED


See VWC2L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001073969.1  
ENSEMBL proteins: 
 ENSP00000308976   ENSP00000403779  

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


Find genes that share domains with VWC2L           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

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

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with VWC2L           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for VWC2L:
 Decreased p24 protein expressi 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for VWC2L

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VWC2L_HUMAN, B2RUY7: Secreted (By similarity). Cell junction, synapse (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005615extracellular space IEA--
GO:0030054cell junction IEA--
GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA--
GO:0045202synapse IEA--

Find genes that share ontologies with VWC2L           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VWC2L
Interactions:

    Search GeneGlobe Interaction Network for VWC2L

Gene Ontology (GO): 2 biological process terms:    About this table

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

Find genes that share ontologies with VWC2L           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for VWC2L



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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  QuantiFast Probe-based Assays in human, mouse, rat VWC2L

Additional mRNA 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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VWC2L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTAACACAA
VWC2L Expression
About this image

VWC2L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

VWC2L Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.534834
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of chordates.

Orthologs for VWC2L gene from Selected 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_004942463.1  XP_004942520.1 
lizard
(Anolis carolinensis)
Reptilia VWC2L6
von Willebrand factor C domain containing protein ...
83(a)
1 ↔ 1
1(116178082-116179273)
tropical clawed frog
(Xenopus tropicalis)
Amphibia vwc2l1 von Willebrand factor C domain containing protein 2-like 79.28(n)
88.74(a)
  100488085  XM_002932017.2  XP_002932063.1 
zebrafish
(Danio rerio)
Actinopterygii vwc2l1 von Willebrand factor C domain-containing protein 2-like 72.82(n)
78.38(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)
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Paralogs for VWC2L gene
VWC22  
1 SIMAP similar gene for VWC2L using alignment to 2 protein entries:     VWC2L_HUMAN (see all proteins):
VWC2

Find genes that share paralogs with VWC2L           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for VWC2L (see all 2497)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs344116611,2
C--207146959(+) AAAAA-/A/AA  
  
/AAAAA
GTAAT
1 -- int11NA 2
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--------

HapMap Linkage Disequilibrium report for VWC2L (215275789 - 215443683 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for VWC2L:    About this table    
Variant IDTypeSubtypePubMed ID
esv2721444CNV Deletion23290073
esv2721445CNV Deletion23290073
esv2721443CNV Deletion23290073
esv2721442CNV Deletion23290073
nsv875830CNV Gain21882294

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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.)
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Find genes that share disorders with VWC2L           About GenesLikeMe

Genetic Association Database (GAD): VWC2L
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)
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PubMed articles for VWC2L gene integrated from 10 sources:
(articles sorted by number of sources associating them with VWC2L)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PubMed id 20468071)1, 4 Dick D.M....Bierut L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
  3. Generalization of Variants Identified by Genome-Wide Association Studies for Electrocardiographic Traits in African Americans. (PubMed id 23534349)1 Jeff J.M....Crawford D.C. (Ann. Hum. Genet. 2013)
  4. Modulation of matrix mineralization by Vwc2-like protein and its novel splicing isoforms. (PubMed id 22209847)1 Ohyama Y....Mochida Y. (Biochem. Biophys. Res. Commun. 2012)
  5. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
  6. A novel neural-specific BMP antagonist, Brorin-like, of the Chordin family. (PubMed id 19852960)2 Miwa H.... Itoh N. (FEBS Lett. 2009)
  7. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)
  8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  9. 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. (Genome Res. 2004)
  10. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 402117 HGNC: 37203 Ensembl:ENSG00000174453 euGenes: HUgn402117 ECgene: VWC2L
H-InvDB: VWC2L

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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