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Aliases for WBSCR28 Gene

Aliases for WBSCR28 Gene

  • Williams-Beuren Syndrome Chromosome Region 28 2 3 5

External Ids for WBSCR28 Gene

Previous GeneCards Identifiers for WBSCR28 Gene

  • GC07P072673
  • GC07P072687
  • GC07P072720
  • GC07P072913
  • GC07P073275
  • GC07P069158

Summaries for WBSCR28 Gene

GeneCards Summary for WBSCR28 Gene

WBSCR28 (Williams-Beuren Syndrome Chromosome Region 28) is a Protein Coding gene. Diseases associated with WBSCR28 include Williams-Beuren Syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WBSCR28 Gene

Genomics for WBSCR28 Gene

Regulatory Elements for WBSCR28 Gene

Enhancers for WBSCR28 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F073840 0.8 ENCODE 13.2 -20.9 -20934 0.2 CTCF WBSCR28 VPS37D GC07P073835 WBSCR27
GH07F073838 0.4 ENCODE 13.2 -22.3 -22293 1.1 SOX5 CTCF CBX3 NR2F1 ZFP64 ZMYM3 RCOR2 ADNP ZNF580 NR2F6 WBSCR27 WBSCR28 VPS37D GC07P073835
GH07F073825 0.4 ENCODE 13.2 -31.2 -31223 8.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF207 FOS SP3 WBSCR27 WBSCR28 DNAJC30 WBSCR22 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
GH07F073855 0.9 Ensembl ENCODE 0.4 -5.5 -5522 1.1 ATF1 PKNOX1 WRNIP1 ZNF48 ZNF121 GLIS2 ZNF143 ZHX2 MXD4 MIER2 WBSCR27 BAZ1B DNAJC30 WBSCR22 VPS37D GC07M073847 WBSCR28
GH07F073849 1.2 FANTOM5 Ensembl ENCODE 0.4 -10.2 -10208 3.9 PKNOX1 ARNT SIN3A FEZF1 FOS DEK ZNF263 SP3 JUNB TBX21 WBSCR27 WBSCR22 ELN DNAJC30 VPS37D POM121B MIR590 BCL7B GC07M073847 WBSCR28
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WBSCR28 on UCSC Golden Path with GeneCards custom track

Genomic Location for WBSCR28 Gene

Chromosome:
7
Start:
73,861,159 bp from pter
End:
73,865,894 bp from pter
Size:
4,736 bases
Orientation:
Plus strand

Genomic View for WBSCR28 Gene

Genes around WBSCR28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WBSCR28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WBSCR28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WBSCR28 Gene

Proteins for WBSCR28 Gene

  • Protein details for WBSCR28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UE05-WBS28_HUMAN
    Recommended name:
    Williams-Beuren syndrome chromosomal region 28 protein
    Protein Accession:
    Q6UE05
    Secondary Accessions:
    • Q6UE04
    • Q8NHP4

    Protein attributes for WBSCR28 Gene

    Size:
    265 amino acids
    Molecular mass:
    29433 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ74836.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for WBSCR28 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WBSCR28 Gene

Post-translational modifications for WBSCR28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WBSCR28 Gene

No data available for DME Specific Peptides for WBSCR28 Gene

Domains & Families for WBSCR28 Gene

Protein Domains for WBSCR28 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WBSCR28 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WBSCR28: view

No data available for Gene Families and UniProtKB/Swiss-Prot for WBSCR28 Gene

Function for WBSCR28 Gene

genes like me logo Genes that share phenotypes with WBSCR28: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for WBSCR28 Gene

Localization for WBSCR28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WBSCR28 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WBSCR28 Gene COMPARTMENTS Subcellular localization image for WBSCR28 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for WBSCR28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with WBSCR28: view

Pathways & Interactions for WBSCR28 Gene

SuperPathways for WBSCR28 Gene

No Data Available

Interacting Proteins for WBSCR28 Gene

Selected Interacting proteins: Q6UE05-WBS28_HUMAN for WBSCR28 Gene via IID

Symbol External ID(s) Details
BAG3

Gene Ontology (GO) - Biological Process for WBSCR28 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WBSCR28 Gene

Transcripts for WBSCR28 Gene

mRNA/cDNA for WBSCR28 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WBSCR28 Gene

Williams-Beuren syndrome chromosome region 28:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR28 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2:
SP3:

Relevant External Links for WBSCR28 Gene

GeneLoc Exon Structure for
WBSCR28
ECgene alternative splicing isoforms for
WBSCR28

Expression for WBSCR28 Gene

mRNA expression in normal human tissues for WBSCR28 Gene

mRNA differential expression in normal tissues according to GTEx for WBSCR28 Gene

This gene is overexpressed in Testis (x51.2).

NURSA nuclear receptor signaling pathways regulating expression of WBSCR28 Gene:

WBSCR28

SOURCE GeneReport for Unigene cluster for WBSCR28 Gene:

Hs.647026
genes like me logo Genes that share expression patterns with WBSCR28: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for WBSCR28 Gene

Orthologs for WBSCR28 Gene

This gene was present in the common ancestor of mammals.

Orthologs for WBSCR28 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR28 34 35
  • 98.62 (n)
cow
(Bos Taurus)
Mammalia WBSCR28 34 35
  • 75.51 (n)
dog
(Canis familiaris)
Mammalia WBSCR28 34 35
  • 75.22 (n)
mouse
(Mus musculus)
Mammalia Wbscr28 34 16 35
  • 67.43 (n)
rat
(Rattus norvegicus)
Mammalia Wbscr28 34
  • 67.18 (n)
Species where no ortholog for WBSCR28 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for WBSCR28 Gene

ENSEMBL:
Gene Tree for WBSCR28 (if available)
TreeFam:
Gene Tree for WBSCR28 (if available)

Paralogs for WBSCR28 Gene

No data available for Paralogs for WBSCR28 Gene

Variants for WBSCR28 Gene

Sequence variations from dbSNP and Humsavar for WBSCR28 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10675041 -- 73,864,916(+) AAAAA(-/AA)AGAAA intron-variant
rs111281950 -- 73,859,577(+) TTTCT(C/T)TCTTT upstream-variant-2KB
rs111585725 -- 73,861,345(+) GGGCC(C/T)AAGCC intron-variant, upstream-variant-2KB
rs111690759 -- 73,862,655(+) CAGGA(A/G)TTCCA intron-variant
rs111714725 -- 73,861,179(+) AGTAG(C/G)TGGGG intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for WBSCR28 Gene

Variant ID Type Subtype PubMed ID
nsv831029 CNV loss 17160897

Variation tolerance for WBSCR28 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WBSCR28 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WBSCR28

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBSCR28 Gene

Disorders for WBSCR28 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WBSCR28 Gene - From: GeneCards

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

Relevant External Links for WBSCR28

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WBSCR28
genes like me logo Genes that share disorders with WBSCR28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WBSCR28 Gene

Publications for WBSCR28 Gene

  1. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PMID: 8812460) Osborne L.R. … Tsui L.-C. (Genomics 1996) 2 3 64
  2. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y. … Ge F. (Mol. Cell Proteomics 2013) 3 64
  3. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PMID: 18398435) Micale L. … Reymond A. (Eur. J. Hum. Genet. 2008) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 4 64

Products for WBSCR28 Gene

Sources for WBSCR28 Gene

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