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WBSCR17 Gene

protein-coding   GIFtS: 56
GCID: GC07P070597

Williams-Beuren Syndrome Chromosome Region 17

  See WBSCR17-related disease
at  

(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
Williams-Beuren Syndrome Chromosome Region 171 2     EC 2.4.1.413 8
GALNTL32 3 5     GALNACT172 5
Polypeptide GalNAc Transferase 31 2     GALNT162
Polypeptide N-Acetylgalactosaminyltransferase-Like 31 2     GALNT202
GalNAc-T-Like Protein 32 3     GalNAc-T5L2
Polypeptide GalNAc Transferase-Like Protein 32 3     Polypeptide N-Acetylgalactosaminyltransferase WBSCR172
Protein-UDP Acetylgalactosaminyltransferase-Like Protein 32 3     Pp-GalNAc-Transferase 202
Williams-Beuren Syndrome Chromosomal Region 17 Protein2 3     Putative Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 32
Pp-GaNTase-Like Protein 32 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase-Like 32
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 32 3     UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 162

External Ids:    HGNC: 163471   Entrez Gene: 644092   Ensembl: ENSG000001852747   OMIM: 6151375   UniProtKB: Q6IS243   

Export aliases for WBSCR17 gene to outside databases

Previous GC identifers: GC07P069526 GC07P069238 GC07P069996 GC07P070009 GC07P070042 GC07P070235 GC07P066769


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WBSCR17 Gene:
This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted
region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of
contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. (provided by RefSeq, Jan 2013)

GeneCards Summary for WBSCR17 Gene:
WBSCR17 (Williams-Beuren syndrome chromosome region 17) is a protein-coding gene. Diseases associated with WBSCR17 include williams-beuren syndrome. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT9.

UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
Function: May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an
N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity)

Gene Wiki entry for WBSCR17 Gene


(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_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the WBSCR17 gene promoter:
         CUTL1   HNF-1A   GATA-2   MZF-1   E2F-1   E2F   POU2F1   POU2F1a   HNF-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): WBSCR17 promoter sequence
   Search Chromatin IP Primers for WBSCR17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WBSCR17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.22   HGNC cytogenetic band: 7q11.23

WBSCR17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WBSCR17 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P070597:  view genomic region     (about GC identifiers)

Start:
70,597,155 bp from pter      End:
71,178,585 bp from pter
Size:
581,431 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 69,931,747-70,512,469     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24 (See protein sequence)
Recommended Name: Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3  
Size: 598 amino acids; 67751 Da
Cofactor: Manganese (By similarity)
Secondary accessions: Q8NFV9 Q9NTA8

Explore the universe of human proteins at neXtProt for WBSCR17: NX_Q6IS24

Explore proteomics data for WBSCR17 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn50, Asn461, Asn486
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for WBSCR17 (Q6IS24) (see all 5)
     KREGLIR  RVAEVWMD  IFVNEALS  AEVWMDDYK 


    See WBSCR17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071924.1  
    ENSEMBL proteins: 
     ENSP00000329654   ENSP00000392019  
    Reactome Protein details: Q6IS24

    WBSCR17 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    GLT2: Glycosyltransferase family 2 domain containing

    2 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q6IS24

    ProtoNet protein and cluster: Q6IS24

    2 Blocks protein domains:
    IPB000772 Ricin B lectin domain
    IPB001173 Glycosyl transferase


    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    Domain: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also
    called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal
    domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal
    binding (By similarity)
    Domain: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By
    similarity)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    Find genes that share domains with WBSCR17           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: GLTL3_HUMAN, Q6IS24
    Function: May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an
    N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity)
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with WBSCR17           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for WBSCR17:
     Increased 8N DNA content  Large nuclei 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WBSCR17
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    miRTarBase miRNAs that target WBSCR17:
    hsa-mir-335-5p (MIRT016819)

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    Selected qRT-PCR Assays for microRNAs that regulate WBSCR17 (see all 26):
    hsa-miR-302d hsa-miR-520e hsa-miR-362-3p hsa-miR-302e hsa-miR-1285 hsa-miR-3125 hsa-miR-3916 hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidWBSCR17 3' UTR sequence
    Inhib. RNA
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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
    GLTL3_HUMAN, Q6IS24: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum1
    endosome1
    extracellular1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with WBSCR17           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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    SuperPaths for WBSCR17 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Mucin type O-Glycan biosynthesis0.47
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with WBSCR17           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for WBSCR17
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for WBSCR17):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WBSCR17
    Interactions:

        Search GeneGlobe Interaction Network for WBSCR17

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for WBSCR17 (ENSP000003296544) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GNT6ENSP000003462564STRING: ENSP00000346256
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GCNT1ENSP000003659204STRING: ENSP00000365920
    ST6GALNAC1ENSP000001566264STRING: ENSP00000156626
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IEA--

    Find genes that share ontologies with WBSCR17           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
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    Browse Tocris compounds for WBSCR17 (GLTL3)

    3 HMDB Compounds for WBSCR17    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Manganesemanganese 7439-96-5--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--



    (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 WBSCR17 gene: 
    NM_022479.2  

    Unigene Cluster for WBSCR17:

    Williams-Beuren syndrome chromosome region 17
    Hs.488591  [show with all ESTs]
    Unigene Representative Sequence: AK126044
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333538(uc003tvy.3) ENST00000498380 ENST00000447516 ENST00000467723(uc003tvz.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate WBSCR17 (see all 26):
    hsa-miR-302d hsa-miR-520e hsa-miR-362-3p hsa-miR-302e hsa-miR-1285 hsa-miR-3125 hsa-miR-3916 hsa-miR-520a-3p
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    Additional mRNA sequence: 

    AB078148.1 AF410457.1 AJ626726.1 AK022143.1 AK091379.1 AK094958.1 AK096991.1 AK126044.1 
    AK290036.1 AL137431.1 BC067524.1 BC067525.1 BC069624.1 BC069628.1 BC069636.1 BC069645.1 
    BC069997.1 CR749675.1 

    8 DOTS entries:

    DT.95106831  DT.101984604  DT.121104424  DT.75101185  DT.309955  DT.95089775  DT.121104440  DT.95366035 

    Selected AceView cDNA sequences (see all 76):

    AU121279 AI459324 CR749675 AF410457 BM930412 BF724687 BC069624 AA349934 
    BM717526 CD105620 AI634540 BF527569 AX746946 AK022143 CD172312 AI420776 
    AA331184 BC069628 NM_022479 AI151048 AI692373 CB152061 BC069645 BF002954 

    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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    WBSCR17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGCACTTC
    WBSCR17 Expression
    About this image


    WBSCR17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Inner Cell Mass (Early Embryonic Tissues)
             hIPS1
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    WBSCR17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WBSCR17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.488591

    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
    Tissue specificity: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen

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    In Situ
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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 animals.

    Orthologs for WBSCR17 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wbscr171 , 5 Williams-Beuren syndrome chromosome region 17 homolog more1, 5 89.52(n)1
    98.49(a)1
      5 (70.66 cM)5
    2129961  NM_145218.31  NP_660253.21 
     1308720825 
    chicken
    (Gallus gallus)
    Aves WBSCR171 Williams-Beuren syndrome chromosome region 17 83.84(n)
    94.98(a)
      417480  XM_415728.4  XP_415728.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    94(a)
    91(a)
    1 ↔ many
    1 ↔ many
    GL344408.1(45418-57983)
    GL343583.1(101357-134444)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.134072 Transcribed sequence with moderate similarity to protein more 75.12(n)    BX731048.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5677941 putative polypeptide N-acetylgalactosaminyltransferase-like more 68.75(n)
    71.84(a)
      567794  XM_691097.5  XP_696189.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75796
    --
    28(a)
    1 → many
    3L(15674733-15676545)
    worm
    (Caenorhabditis elegans)
    Secernentea gly-86
    Protein GLY-8 (gly-8) mRNA, complete cds
    31(a)
    1 → many
    III(11624991-11628238) WBGene00001633


    ENSEMBL Gene Tree for WBSCR17 (if available)
    TreeFam Gene Tree for WBSCR17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WBSCR17 gene
    GALNT92  GALNT182  GALNT82  
    Selected SIMAP similar genes for WBSCR17 using alignment to 3 protein entries:     GLTL3_HUMAN (see all proteins) (see all similar genes):
    DKFZp434I2216    GALNT19    GALNT18    GALNTL4    GALNT9    GALNT8
    GALNT3    GALNTL6    GALNT1    GALNT5    GALNTL5    GALNT14
    GALNT12    GalNAc-T10    GALNT10    GALNT7    GALNT13    POC1B-GALNT4

    Find genes that share paralogs with WBSCR17           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 WBSCR17 (see all 13272)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441850401,2
    Cuntested170880967(+) TGATCC/TGCGCT 2 R C mis10--------
    rs672412421,2
    C--66805256(-) CTTAC-/CACACAC 1 -- int12Minor allele frequency- CA:0.25NA 4
    rs593354311,2
    C--70491701(+) TTTTT-/T/TT  
            
    ATTTT
    1 -- int11NA 2
    rs1511263431,2
    C--70595541(+) TGCAGA/CAGCTT 1 -- us2k10--------
    rs624596171,2
    C,F--70595559(+) TTGTGC/GTAGCT 1 -- us2k16Minor allele frequency- G:0.24NA WA CSA EA 364
    rs1426183881,2
    --70595610(+) ATACTC/TCATGA 1 -- us2k10--------
    rs77837691,2
    C,F,A,H--70595648(+) ACACAC/GCCTCT 1 -- us2k115Minor allele frequency- G:0.41NS EA NA WA CSA 791
    rs78108491,2
    C,F,A,H--70595730(+) AGATTT/ATACAA 1 -- us2k117Minor allele frequency- A:0.48NS EA NA WA CSA 952
    rs1468969541,2
    C--70595804(+) ACTATG/TTTTTT 1 -- us2k10--------
    rs1392515801,2
    --70595857(+) CACAGA/GCAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for WBSCR17 (70597155 - 70847155 bp, first 250kb of WBSCR17)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for WBSCR17 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1136909CNV Deletion17803354
    esv2734648CNV Deletion23290073
    esv2662410CNV Deletion23128226
    esv2657279CNV Deletion23128226
    esv2674218CNV Deletion23128226
    esv2734649CNV Deletion23290073
    esv2677113CNV Deletion23128226
    esv2131076CNV Deletion18987734
    esv1489524CNV Deletion17803354
    esv2734653CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WBSCR17
    DNA2.0 Custom Variant and Variant Library Synthesis for WBSCR17

    (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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    OMIM gene information: 615137    OMIM disorders: --

    UniProtKB/Swiss-Prot: GLTL3_HUMAN, Q6IS24
  • Note=WBSCR17 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

  • 1 disease for WBSCR17:    
    About MalaCards
    williams-beuren syndrome

    1 disease from the University of Copenhagen DISEASES database for WBSCR17:
    Williams-Beuren syndrome

    Find genes that share disorders with WBSCR17           About GenesLikeMe

    Genetic Association Database (GAD): WBSCR17
    Human Genome Epidemiology (HuGE) Navigator: WBSCR17 (2 documents)

    Export disorders for WBSCR17 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 WBSCR17 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with WBSCR17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G.... Reymond A. (Hum. Genet. 2002)
    2. Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. (PubMed id 15744064)1, 3, 9 Nakamura N....Kurosaka A. (amp 2005)
    3. A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (PubMed id 22787146)1, 3 Nakayama Y....Kurosaka A. (J. Biol. Chem. 2012)
    4. 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)
    5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PubMed id 23377640)1 (Am J Psychiatry 2013)
    8. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (PubMed id 22566498)1 Turner S.T....Boerwinkle E. (Hypertension 2012)
    9. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
    10. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)

    (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: 64409 HGNC: 16347 AceView: WBSCR17 Ensembl:ENSG00000185274 euGenes: HUgn64409
    ECgene: WBSCR17 Kegg: 64409 H-InvDB: WBSCR17

    (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 WBSCR17 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=WBSCR17
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_500

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WBSCR17 gene:
    Search GeneIP for patents involving WBSCR17

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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