VWC2 Gene (Protein Coding)

Von Willebrand Factor C Domain Containing 2

GC07P049783
GIFtS:
35
This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009] See more...

Aliases for VWC2 Gene

Aliases for VWC2 Gene

  • Von Willebrand Factor C Domain Containing 2 2 3 5
  • Brorin 2 3 4
  • Von Willebrand Factor C Domain-Containing Protein 2 3 4
  • Brain-Specific Chordin-Like Protein 3 4
  • Brain-Specific Chordin-Like 2
  • PSST739 3
  • UNQ739 3

External Ids for VWC2 Gene

Summaries for VWC2 Gene

Entrez Gene Summary for VWC2 Gene

  • This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]

GeneCards Summary for VWC2 Gene

VWC2 (Von Willebrand Factor C Domain Containing 2) is a Protein Coding gene. Diseases associated with VWC2 include Epilepsy, Familial Temporal Lobe, 4 and Spastic Paraplegia 20, Autosomal Recessive. An important paralog of this gene is VWC2L.

UniProtKB/Swiss-Prot Summary for VWC2 Gene

  • BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity).

Additional gene information for VWC2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VWC2 Gene

Genomics for VWC2 Gene

GeneHancer (GH) Regulatory Elements for VWC2 Gene

Promoters and enhancers for VWC2 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
GH07J049773 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 518.5 +1.1 1063 3.4 EP300 EZH2 MXI1 PHF8 SUZ12 SIN3A RNF2 BACH1 ZSCAN29 VWC2 HSALNG0057928 piR-38051-256
GH07J049778 Enhancer 0.5 dbSUPER 8.6 +5.3 5336 0.9 BATF ATF2 SPI1 NFIC IKZF2 BCLAF1 RUNX3 VWC2 piR-38051-256
GH07J049802 Enhancer 0.3 dbSUPER 11.8 +30.1 30069 2.3 SMARCA4 VWC2 piR-38051-256
GH07J049797 Enhancer 0.2 dbSUPER 11.6 +25.2 25240 1.8 VWC2 CDC14C piR-38051-256
GH07J049799 Enhancer 0.2 dbSUPER 11.6 +26.8 26792 0.9 VWC2 piR-38051-256
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VWC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VWC2

Top Transcription factor binding sites by QIAGEN in the VWC2 gene promoter:
  • aMEF-2
  • AREB6
  • Egr-3
  • FOXL1
  • LUN-1
  • MEF-2A
  • NF-1
  • NF-kappaB1
  • RelA
  • YY1

Genomic Locations for VWC2 Gene

Genomic Locations for VWC2 Gene
chr7:49,773,638-49,921,950
(GRCh38/hg38)
Size:
148,313 bases
Orientation:
Plus strand
chr7:49,813,257-49,961,546
(GRCh37/hg19)
Size:
148,290 bases
Orientation:
Plus strand

Genomic View for VWC2 Gene

Genes around VWC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VWC2 Gene

Proteins for VWC2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for VWC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TAL6-VWC2_HUMAN
    Recommended name:
    Brorin
    Protein Accession:
    Q2TAL6
    Secondary Accessions:
    • Q6UXE2

    Protein attributes for VWC2 Gene

    Size:
    325 amino acids
    Molecular mass:
    35282 Da
    Quaternary structure:
    • 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 VWC2. 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).

neXtProt entry for VWC2 Gene

Protein Expression for VWC2 Gene

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

Post-translational modifications for VWC2 Gene

No Post-translational modifications

Other Protein References for VWC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

  • Boster Bio ELISA Kits for VWC2

No data available for DME Specific Peptides for VWC2 Gene

Domains & Families for VWC2 Gene

Gene Families for VWC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for VWC2 Gene

Blocks:
  • von Willebrand factor, type C
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWC2 Gene

GenScript: Design optimal peptide antigens:
  • von Willebrand factor C domain-containing protein 2 (VWC2_HUMAN)
genes like me logo Genes that share domains with VWC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VWC2 Gene

Function for VWC2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for VWC2 Gene

UniProtKB/Swiss-Prot Function:
BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity).

Phenotypes From GWAS Catalog for VWC2 Gene

Gene Ontology (GO) - Molecular Function for VWC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with VWC2: view
genes like me logo Genes that share phenotypes with VWC2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for VWC2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VWC2 Gene

Localization for VWC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWC2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Cell junction, synapse.

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 VWC2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
nucleus 1

Gene Ontology (GO) - Cellular Components for VWC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0005614 interstitial matrix IEA --
GO:0005615 extracellular space ISS,IEA 17400546
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with VWC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VWC2 Gene

Pathways & Interactions for VWC2 Gene

PathCards logo

SuperPathways for VWC2 Gene

No Data Available

Interacting Proteins for VWC2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: Q2TAL6-VWC2_HUMAN ENSP00000341819 for VWC2 Gene via UniProtKB STRING IID

GPS-Prot Interaction Network for VWC2
;

Gene Ontology (GO) - Biological Process for VWC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030514 negative regulation of BMP signaling pathway ISS 17400546
GO:0045666 positive regulation of neuron differentiation ISS 17400546
genes like me logo Genes that share ontologies with VWC2: view

No data available for Pathways by source and SIGNOR curated interactions for VWC2 Gene

Drugs & Compounds for VWC2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for VWC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for VWC2 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWC2 Gene

No ASD Table

Relevant External Links for VWC2 Gene

GeneLoc Exon Structure for
VWC2

Expression for VWC2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VWC2 Gene

mRNA expression in normal human tissues for VWC2 Gene
mRNA expression by GTEx for VWC2 GenemRNA expression by BioGPS for VWC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWC2 Gene

This gene is overexpressed in Heart - Left Ventricle (x8.2), Ovary (x6.4), Heart - Atrial Appendage (x6.0), Brain - Cerebellar Hemisphere (x5.5), and Brain - Cerebellum (x4.7).

Protein differential expression in normal tissues from HIPED for VWC2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VWC2 Gene



Protein tissue co-expression partners for VWC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VWC2

SOURCE GeneReport for Unigene cluster for VWC2 Gene:

Hs.629302

Evidence on tissue expression from TISSUES for VWC2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with VWC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWC2 Gene

Orthologs for VWC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia VWC2 31 30
  • 99.9 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia VWC2 31
  • 92 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia VWC2 31 30
  • 88 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Vwc2 17 31 30
  • 87.86 (n)
rat
(Rattus norvegicus)
 Mammalia Vwc2 30
  • 87.45 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia VWC2 31
  • 78 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia VWC2 31
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves VWC2 31 30
  • 78.33 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia VWC2 31
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia vwc2 30
  • 65.52 (n)
zebrafish
(Danio rerio)
 Actinopterygii vwc2 31 30
  • 74.03 (n)
 OneToOne
Species where no ortholog for VWC2 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)
  • 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 squirt (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 VWC2 Gene

ENSEMBL:
Gene Tree for VWC2 (if available)
TreeFam:
Gene Tree for VWC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VWC2: view image

Paralogs for VWC2 Gene

Paralogs for VWC2 Gene

(1) SIMAP similar genes for VWC2 Gene using alignment to 1 proteins:

  • VWC2_HUMAN
genes like me logo Genes that share paralogs with VWC2: view

Variants for VWC2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VWC2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs769604 - p.Ala120Gly

Additional dbSNP identifiers (rs#s) for VWC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for VWC2 Gene

Variant ID Type Subtype PubMed ID
esv3613116 CNV gain 21293372
nsv606896 CNV gain 21841781
nsv606897 CNV gain 21841781
nsv830996 CNV gain 17160897

Variation tolerance for VWC2 Gene

Gene Damage Index Score: 10.45; 90.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VWC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWC2 Gene

Disorders for VWC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for VWC2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search VWC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VWC2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with VWC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VWC2 Gene

Publications for VWC2 Gene

  1. Brorin, a novel secreted bone morphogenetic protein antagonist, promotes neurogenesis in mouse neural precursor cells. (PMID: 17400546) Koike N … Itoh N (The Journal of biological chemistry 2007) 2 3 4 54
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  4. Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. (PMID: 25436638) Malinowski JR … Crawford DC (PloS one 2014) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

ExternalLinks

View latest publications for VWC2 gene in Mastermind

Products for VWC2 Gene

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