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Aliases for WBSCR16 Gene

Aliases for WBSCR16 Gene

  • Williams-Beuren Syndrome Chromosome Region 16 2 3 5
  • RCC1-Like G Exchanging Factor-Like Protein 4

External Ids for WBSCR16 Gene

Previous GeneCards Identifiers for WBSCR16 Gene

  • GC07P073301
  • GC07M073839
  • GC07M073853
  • GC07M073885
  • GC07M074094
  • GC07M074456
  • GC07M070125

Summaries for WBSCR16 Gene

Entrez Gene Summary for WBSCR16 Gene

  • This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for WBSCR16 Gene

WBSCR16 (Williams-Beuren Syndrome Chromosome Region 16) is a Protein Coding gene. Diseases associated with WBSCR16 include williams-beuren syndrome. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is RCC1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WBSCR16 Gene

Genomics for WBSCR16 Gene

Regulatory Elements for WBSCR16 Gene

Promoters for WBSCR16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WBSCR16 on UCSC Golden Path with GeneCards custom track

Genomic Location for WBSCR16 Gene

Chromosome:
7
Start:
75,027,119 bp from pter
End:
75,074,228 bp from pter
Size:
47,110 bases
Orientation:
Minus strand

Genomic View for WBSCR16 Gene

Genes around WBSCR16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WBSCR16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WBSCR16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WBSCR16 Gene

Proteins for WBSCR16 Gene

  • Protein details for WBSCR16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I51-WBS16_HUMAN
    Recommended name:
    Williams-Beuren syndrome chromosomal region 16 protein
    Protein Accession:
    Q96I51
    Secondary Accessions:
    • D3DXK0
    • F5GX55
    • F5H6C7
    • Q548B1
    • Q8IW88
    • Q8N572
    • Q9H0G7

    Protein attributes for WBSCR16 Gene

    Size:
    464 amino acids
    Molecular mass:
    49997 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for WBSCR16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WBSCR16 Gene

Proteomics data for WBSCR16 Gene at MOPED

Post-translational modifications for WBSCR16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WBSCR16 Gene

No data available for DME Specific Peptides for WBSCR16 Gene

Domains & Families for WBSCR16 Gene

Protein Domains for WBSCR16 Gene

Suggested Antigen Peptide Sequences for WBSCR16 Gene

Graphical View of Domain Structure for InterPro Entry

Q96I51

UniProtKB/Swiss-Prot:

WBS16_HUMAN :
  • Contains 6 RCC1 repeats.
Similarity:
  • Contains 6 RCC1 repeats.
genes like me logo Genes that share domains with WBSCR16: view

No data available for Gene Families for WBSCR16 Gene

Function for WBSCR16 Gene

Phenotypes for WBSCR16 Gene

genes like me logo Genes that share phenotypes with WBSCR16: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WBSCR16 Gene

Localization for WBSCR16 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WBSCR16 Gene COMPARTMENTS Subcellular localization image for WBSCR16 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for WBSCR16 Gene

Pathways & Interactions for WBSCR16 Gene

SuperPathways for WBSCR16 Gene

No Data Available

Interacting Proteins for WBSCR16 Gene

Selected Interacting proteins: Q96I51-WBS16_HUMAN for WBSCR16 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for WBSCR16 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WBSCR16 Gene

Drugs & Compounds for WBSCR16 Gene

No Compound Related Data Available

Transcripts for WBSCR16 Gene

Unigene Clusters for WBSCR16 Gene

Williams-Beuren syndrome chromosome region 16:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR16 Gene

No ASD Table

Relevant External Links for WBSCR16 Gene

GeneLoc Exon Structure for
WBSCR16
ECgene alternative splicing isoforms for
WBSCR16

Expression for WBSCR16 Gene

mRNA expression in normal human tissues for WBSCR16 Gene

Protein differential expression in normal tissues from HIPED for WBSCR16 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.7) and Adrenal (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for WBSCR16 Gene



SOURCE GeneReport for Unigene cluster for WBSCR16 Gene Hs.723684

mRNA Expression by UniProt/SwissProt for WBSCR16 Gene

Q96I51-WBS16_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with WBSCR16: view

Protein tissue co-expression partners for WBSCR16 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WBSCR16 Gene

Orthologs for WBSCR16 Gene

This gene was present in the common ancestor of animals.

Orthologs for WBSCR16 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WBSCR16 35
  • 87.57 (n)
  • 92.46 (a)
dog
(Canis familiaris)
Mammalia LOC489793 35
  • 87.24 (n)
  • 90.49 (a)
mouse
(Mus musculus)
Mammalia Wbscr16 35
  • 83.95 (n)
  • 91.07 (a)
Wbscr16 16
chimpanzee
(Pan troglodytes)
Mammalia WBSCR16 35
  • 99.5 (n)
  • 99.78 (a)
rat
(Rattus norvegicus)
Mammalia Wbscr16 35
  • 83.99 (n)
  • 90.83 (a)
chicken
(Gallus gallus)
Aves WBSCR16 35
  • 72.01 (n)
  • 76.21 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr16 35
  • 68.04 (n)
  • 74.15 (a)
zebrafish
(Danio rerio)
Actinopterygii wbscr16 35
  • 67.39 (n)
  • 71.01 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007506 35
  • 51.09 (n)
  • 43.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3862 35
  • 52.8 (n)
  • 43.11 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_W09G3.7 35
  • 43.49 (n)
  • 34.5 (a)
Species with no ortholog for WBSCR16:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for WBSCR16 Gene

ENSEMBL:
Gene Tree for WBSCR16 (if available)
TreeFam:
Gene Tree for WBSCR16 (if available)

Paralogs for WBSCR16 Gene

Paralogs for WBSCR16 Gene

(2) SIMAP similar genes for WBSCR16 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with WBSCR16: view

Variants for WBSCR16 Gene

Sequence variations from dbSNP and Humsavar for WBSCR16 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6955671 - 75,073,650(+) GCGCC(C/T)GGCCG reference, missense
rs4728649 -- 75,055,027(-) CCCAG(A/G)TGCTC intron-variant
rs6460092 -- 75,067,561(+) gaggc(A/G)gaggt intron-variant
rs6460093 -- 75,069,109(+) tgatc(C/T)gcccg intron-variant
rs6460094 -- 75,072,939(+) TGTCT(A/C)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WBSCR16 Gene

Variant ID Type Subtype PubMed ID
dgv2100e1 CNV Complex 17122850
essv21300 CNV CNV 17122850
nsv888381 CNV Gain 21882294
nsv7402 OTHER Inversion 18451855
nsv8145 CNV Gain 18304495
esv2658348 CNV Deletion 23128226
esv23295 CNV Gain+Loss 19812545
nsv820906 CNV Deletion 20802225

Variation tolerance for WBSCR16 Gene

Gene Damage Index Score: 7.22; 81.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WBSCR16 Gene

HapMap Linkage Disequilibrium report
WBSCR16
Human Gene Mutation Database (HGMD)
WBSCR16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBSCR16 Gene

Disorders for WBSCR16 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WBSCR16 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WBS16_HUMAN
  • Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305 PubMed:12073013}.

Relevant External Links for WBSCR16

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WBSCR16
genes like me logo Genes that share disorders with WBSCR16: view

No data available for Genatlas for WBSCR16 Gene

Publications for WBSCR16 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Development and application of a DNA microarray-based yeast two-hybrid system. (PMID: 23275563) Suter B. … Wanker E.E. (Nucleic Acids Res. 2013) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for WBSCR16 Gene

Sources for WBSCR16 Gene

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