VWC2L Gene (Protein Coding)

Von Willebrand Factor C Domain Containing 2 Like

GC02P214411
GIFtS:
31
See more...

Aliases for VWC2L Gene

Aliases for VWC2L Gene

  • Von Willebrand Factor C Domain Containing 2 Like 2 3 5
  • Von Willebrand Factor C Domain-Containing Protein 2-Like 2 3 4
  • Brorin-Like 2 3 4
  • Von Willebrand Factor C Domain Containing Protein 2 Like 3
  • VWC2L 5

External Ids for VWC2L Gene

Previous GeneCards Identifiers for VWC2L Gene

  • GC02P214985
  • GC02P215275
  • GC02P207132

Summaries for VWC2L Gene

GeneCards Summary for VWC2L Gene

VWC2L (Von Willebrand Factor C Domain Containing 2 Like) is a Protein Coding gene. Diseases associated with VWC2L include Spinocerebellar Ataxia 36 and Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma. An important paralog of this gene is VWC2.

UniProtKB/Swiss-Prot Summary for VWC2L Gene

  • May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization.

Additional gene information for VWC2L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VWC2L Gene

Genomics for VWC2L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for VWC2L 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
GH02J214411 Promoter/Enhancer 1.2 EPDnew Ensembl 605.4 +0.0 8 0.9 GATAD2A TEAD4 REST TFE3 NFKBIZ ZNF7 ZNF143 RXRB IRF2 GABPA VWC2L VWC2L-IT1 ENSG00000197585 BARD1
GH02J214378 Enhancer 0.7 Ensembl 0.3 -32.3 -32253 0.4 CTCF FOXA1 ESR1 CTBP1 PKNOX1 MBD2 GATA3 DPF2 JUND NFIB VWC2L piR-56497-086 ENSG00000197585
GH02J214379 Enhancer 0.5 Ensembl 0.3 -31.7 -31654 0.4 ESR1 GATA3 TCF7L2 ZNF217 RXRA VWC2L piR-56497-086 ENSG00000197585
GH02J214481 Enhancer 0.6 Ensembl ENCODE 0.2 +70.2 70247 1 POLR2A CEBPB MEF2D SMARCA4 PKNOX1 ZNF83 VWC2L-IT1 VWC2L ENSG00000197585 BARD1
GH02J214806 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0 +397.7 397652 5.4 SP1 HNRNPL GATAD2A PRDM10 TFE3 ZNF512 SOX13 NFKBIZ POLR2A ZNF692 BARD1 SNHG31 SNORA70I RPL10P6 piR-52261-153 VWC2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VWC2L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VWC2L

Top Transcription factor binding sites by QIAGEN in the VWC2L gene promoter:
  • aMEF-2
  • AREB6
  • Bach1
  • Ik-1
  • MEF-2A
  • Pax-3
  • RORalpha1
  • SRF
  • SRF (504 AA)
  • Zic1

Genomic Locations for VWC2L Gene

Genomic Locations for VWC2L Gene
chr2:214,411,054-214,578,976
(GRCh38/hg38)
Size:
167,923 bases
Orientation:
Plus strand
chr2:215,275,789-215,443,683
(GRCh37/hg19)
Size:
167,895 bases
Orientation:
Plus strand

Genomic View for VWC2L Gene

Genes around VWC2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWC2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWC2L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VWC2L Gene

Proteins for VWC2L Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for VWC2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RUY7-VWC2L_HUMAN
    Recommended name:
    von Willebrand factor C domain-containing protein 2-like
    Protein Accession:
    B2RUY7
    Secondary Accessions:
    • A6NC69
    • B2RUW7
    • B7X8X1

    Protein attributes for VWC2L Gene

    Size:
    222 amino acids
    Molecular mass:
    24570 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 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).

    Alternative splice isoforms for VWC2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWC2L Gene

Post-translational modifications for VWC2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VWC2L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VWC2L Gene

Domains & Families for VWC2L Gene

Gene Families for VWC2L Gene

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

Protein Domains for VWC2L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWC2L Gene

GenScript: Design optimal peptide antigens:
  • VWC2L protein (B7ZW27_HUMAN)
  • von Willebrand factor C domain-containing protein 2-like (VWC2L_HUMAN)
genes like me logo Genes that share domains with VWC2L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VWC2L Gene

Function for VWC2L Gene

Products:

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

Molecular function for VWC2L Gene

UniProtKB/Swiss-Prot Function:
May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization.

Phenotypes From GWAS Catalog for VWC2L Gene

Gene Ontology (GO) - Molecular Function for VWC2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27107012
genes like me logo Genes that share ontologies with VWC2L: view
genes like me logo Genes that share phenotypes with VWC2L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VWC2L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VWC2L Gene

Localization for VWC2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWC2L Gene

Secreted. 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 VWC2L gene
Compartment Confidence
extracellular 4
plasma membrane 3
endosome 1

Gene Ontology (GO) - Cellular Components for VWC2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0030054 cell junction IEA --
GO:0032281 AMPA glutamate receptor complex IEA,IBA 21873635
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with VWC2L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VWC2L Gene

Pathways & Interactions for VWC2L Gene

PathCards logo

SuperPathways for VWC2L Gene

No Data Available

Gene Ontology (GO) - Biological Process for VWC2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0030514 negative regulation of BMP signaling pathway IBA 21873635
GO:0045666 positive regulation of neuron differentiation IEA --
genes like me logo Genes that share ontologies with VWC2L: view

No data available for Pathways by source and SIGNOR curated interactions for VWC2L Gene

Drugs & Compounds for VWC2L Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for VWC2L Gene

Products:

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

mRNA/cDNA for VWC2L Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VWC2L

Alternative Splicing Database (ASD) splice patterns (SP) for VWC2L Gene

No ASD Table

Relevant External Links for VWC2L Gene

GeneLoc Exon Structure for
VWC2L

Expression for VWC2L Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VWC2L Gene

mRNA expression in normal human tissues for VWC2L Gene
mRNA expression by GTEx for VWC2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWC2L Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.1), Brain - Hypothalamus (x8.7), Brain - Anterior cingulate cortex (BA24) (x7.2), Brain - Cortex (x5.8), Brain - Hippocampus (x5.4), and Brain - Substantia nigra (x5.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VWC2L

SOURCE GeneReport for Unigene cluster for VWC2L Gene:

Hs.534834

Evidence on tissue expression from TISSUES for VWC2L Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with VWC2L: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWC2L Gene

Orthologs for VWC2L Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWC2L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia VWC2L 30 31
  • 99.55 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VWC2L 30 31
  • 96.25 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia VWC2L 30 31
  • 95.05 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia VWC2L 31
  • 95 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Vwc2l 30 17 31
  • 94.74 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia VWC2L 31
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves VWC2L 30 31
  • 87.39 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia VWC2L 31
  • 83 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia vwc2l 30
  • 79.28 (n)
Zebrafish
(Danio rerio)
 Actinopterygii vwc2l 30 31
  • 72.82 (n)
 OneToOne
Species where no ortholog for VWC2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 VWC2L Gene

ENSEMBL:
Gene Tree for VWC2L (if available)
TreeFam:
Gene Tree for VWC2L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VWC2L: view image

Paralogs for VWC2L Gene

Paralogs for VWC2L Gene

(1) SIMAP similar genes for VWC2L Gene using alignment to 2 proteins:

  • VWC2L_HUMAN
  • B7ZW27_HUMAN
genes like me logo Genes that share paralogs with VWC2L: view

Variants for VWC2L Gene

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Additional dbSNP identifiers (rs#s) for VWC2L Gene

Structural Variations from Database of Genomic Variants (DGV) for VWC2L Gene

Variant ID Type Subtype PubMed ID
esv2721442 CNV deletion 23290073
esv2721443 CNV deletion 23290073
esv2721444 CNV deletion 23290073
esv2721445 CNV deletion 23290073
esv3560966 CNV deletion 23714750
esv3575332 CNV gain 25503493
esv3594260 CNV loss 21293372
esv3594261 CNV loss 21293372
nsv1007833 CNV loss 25217958
nsv1123428 CNV deletion 24896259

Variation tolerance for VWC2L Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VWC2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWC2L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VWC2L Gene

Disorders for VWC2L Gene

MalaCards: The human disease database

(2) MalaCards diseases for VWC2L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search VWC2L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VWC2L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with VWC2L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VWC2L Gene

Publications for VWC2L Gene

  1. Modulation of matrix mineralization by Vwc2-like protein and its novel splicing isoforms. (PMID: 22209847) Ohyama Y … Mochida Y (Biochemical and biophysical research communications 2012) 2 3
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3

ExternalLinks

View latest publications for VWC2L gene in Mastermind

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