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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHST8 Gene

protein-coding   GIFtS: 53
GCID: GC19P034112

Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 81 2     Carbohydrate Sulfotransferase 82
GalNAc-4-O-Sulfotransferase 12 3     galNAc4ST-12
N-Acetylgalactosamine-4-O-Sulfotransferase 12 3     EC 2.8.2.-3
GALNAC4ST12 5     GalNAc-4-ST13
GALNAC-4-ST12     GalNAc4ST-13
GalNAc4ST2     

External Ids:    HGNC: 159931   Entrez Gene: 643772   Ensembl: ENSG000001243027   OMIM: 6101905   UniProtKB: Q9H2A93   

Export aliases for CHST8 gene to outside databases

Previous GC identifers: GC19P034730 GC19P034561 GC19P038788 GC19P038804 GC19P038867 GC19P030612


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHST8 Gene:
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the
pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to
position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is
responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex
hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation
of both male and female mice. Alternatively spliced transcript variants have been found for this gene. (provided
by RefSeq, Aug 2011)

GeneCards Summary for CHST8 Gene: 
CHST8 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8) is a protein-coding gene. Diseases associated with CHST8 include peeling skin syndrome, and scrapie, and among its related super-pathways are Biological oxidations. GO annotations related to this gene include N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST12.

UniProtKB/Swiss-Prot: CHST8_HUMAN, Q9H2A9
Function: Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues
in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by
mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not
active toward chondroitin




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHST8 gene promoter:
         Sox5   NRSF form 1   HNF-4alpha2   Ik-3   NRSF form 2   HNF-4alpha1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHST8 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHST8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHST8


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.1

CHST8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P034112:  view genomic region     (about GC identifiers)

Start:
34,112,861 bp from pter      End:
34,264,414 bp from pter
Size:
151,554 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CHST8_HUMAN, Q9H2A9 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 8  
Size: 424 amino acids; 48834 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Caution: PubMed:10988300 reports the possible existence of a secreted isoform starting at Met-119. However, they
do not provide any experimental evidence
Secondary accessions: Q9H3N2

Explore the universe of human proteins at neXtProt for CHST8: NX_Q9H2A9

Explore proteomics data for CHST8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H2A9

  • CHST8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHST8 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001121367.1  NP_001121368.1  NP_071912.2  

    ENSEMBL proteins: 
     ENSP00000467012   ENSP00000393879   ENSP00000473782   ENSP00000262622   ENSP00000392604  

    Human Recombinant Protein Products for CHST8: 
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    OriGene Protein Over-expression Lysate for CHST8
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    OriGene Custom Protein Services for CHST8
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    Novus Biologicals CHST8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHST8 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016021integral to membrane NAS10988300

    CHST8 for ontologies           About GeneDecksing



    CHST8 Antibody Products: 
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    Novus Biologicals CHST8 Antibodies
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    Cloud-Clone Corp. Antibodies for CHST8 
    Search ThermoFisher Antibodies for CHST8
    LSBio Antibodies in human, mouse, rat for CHST8 

    Assay Products for CHST8: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CHST8 
    Cloud-Clone Corp. CLIAs for CHST8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SULTM: Sulfotransferases, membrane-bound

    2 InterPro protein domains:
     IPR005331 Sulfotransferase
     IPR018011 Carb_sulfotransferase-rel

    Graphical View of Domain Structure for InterPro Entry Q9H2A9

    ProtoNet protein and cluster: Q9H2A9

    UniProtKB/Swiss-Prot: CHST8_HUMAN, Q9H2A9
    Similarity: Belongs to the sulfotransferase 2 family


    CHST8 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHST8_HUMAN, Q9H2A9
    Function: Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues
    in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by
    mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not
    active toward chondroitin
    Biophysicochemical properties: Kinetic parameters: KM=10 uM for carbonic anhydrase VI; pH dependence: Optimum pH
    is 7.2;
    Induction: Down-regulated (17-fold) in prion-infected cells

         Enzyme Number (IUBMB): EC 2.8.2.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001537N-acetylgalactosamine 4-O-sulfotransferase activity IDA10988300
    GO:0008146sulfotransferase activity ----
         
    CHST8 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CHST8:
     Increased cell death in HCC-19  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chst8):
     behavior/neurological  endocrine/exocrine gland  homeostasis/metabolism  reproductive system 

    CHST8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chst8tm1.1Jub for CHST8

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHST8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHST8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHST8 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHST8 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHST8
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CHST8:
    hsa-miR-320a hsa-miR-875-3p hsa-miR-188-5p hsa-miR-320d hsa-miR-218 hsa-miR-320b hsa-miR-1299 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidCHST8 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CHST8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHST8

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CHST8

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): CHST8 (NM_022467)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHST8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHST8
    Sirion Biotech Customized lentivirus for stable overexpression of CHST8 
                         Customized lentivirus expression plasmids for stable overexpression of CHST8 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CHST8
    Search LifeMap BioReagents cell lines for CHST8
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST8


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHST8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    metapathway biotransformation0.41


    1 BioSystems Pathway for CHST8
        metapathway biotransformation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHST8

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006790sulfur compound metabolic process IDA11445554
    GO:0007417central nervous system development NAS10988300
    GO:0016051carbohydrate biosynthetic process IEA--
    GO:0030166proteoglycan biosynthetic process IDA10988300
    GO:0042446hormone biosynthetic process IEP10988300

    CHST8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHST8

    Search CenterWatch for drugs/clinical trials and news about CHST8

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHST8 gene (3 alternative transcripts): 
    NM_001127895.1  NM_001127896.1  NM_022467.3  

    Unigene Cluster for CHST8:

    Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
    Hs.165724  [show with all ESTs]
    Unigene Representative Sequence: NM_022467
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591231 ENST00000438847 ENST00000604556 ENST00000262622(uc002nuu.3)
    ENST00000434302(uc002nus.4 uc002nut.4)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHST8
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CHST8:
    hsa-miR-320a hsa-miR-875-3p hsa-miR-188-5p hsa-miR-320d hsa-miR-218 hsa-miR-320b hsa-miR-1299 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidCHST8 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CHST8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHST8
    Clone
    Products:
         
    OriGene clones in human, mouse for CHST8 (see all 18)
    OriGene ORF clones in mouse, rat for CHST8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CHST8 (NM_022467)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHST8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHST8
    Sirion Biotech Customized lentivirus for stable overexpression of CHST8 
                         Customized lentivirus expression plasmids for stable overexpression of CHST8 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CHST8
    OriGene qSTAR qPCR primer pairs in human, mouse for CHST8
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHST8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHST8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHST8

    Additional mRNA sequence: 

    AB047801.1 AF300612.1 AF305781.1 BC011380.1 BC014250.2 BC018723.1 

    4 DOTS entries:

    DT.100792549  DT.91691931  DT.100792546  DT.100676647 

    24/45 AceView cDNA sequences (see all 45):

    BI917117 CR622600 BI912703 BC018723 BX281370 BC014250 AW294337 CK826188 
    BM927287 BX376367 BX354170 NM_022467 BC011380 CR623005 AB047801 CK826189 
    AF305781 BE783452 CD251391 BX355430 BX355431 BX442496 BX376755 BQ787672 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHST8    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:              -           -                           
    SP2:        -     -           -                           
    SP3:                          -                           
    SP4:        -     -                                       


    ECgene alternative splicing isoforms for CHST8

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHST8 expression in normal human tissues (normalized intensities)      CHST8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTCCAGAG
    CHST8 Expression
    About this image


    CHST8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Endothelial Cells Blood Brain Barrier
             Hypothalamus
             nerve/cranial/facial VII   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Thoracic Rib
             skeleton/pelvic girdle/acetabular region   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             skeleton/pelvic girdle/acetabular region   
     
     Heart (Cardiovascular System)
             heart/ventricle   
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier

    See CHST8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHST8

    SOURCE GeneReport for Unigene cluster: Hs.165724

    UniProtKB/Swiss-Prot: CHST8_HUMAN, Q9H2A9
    Tissue specificity: Predominantly expressed in pituitary gland. In brain, it is expressed in pituitary gland,
    cerebellum, medulla oblongata, pons, thalamus and spinal cord. Expressed in the epidermis. Expressed at lower
    level in lung, spleen, adrenal gland, placenta, prostate, testis, mammary gland and trachea

        SABiosciences Custom PCR Arrays for CHST8
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHST8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST8

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CHST8 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chst81 , 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more1, 5 83.09(n)1
    87.5(a)1
      7 (20.53 cM)5
    689471  NM_175140.41  NP_780349.31 
     346744685 
    chicken
    (Gallus gallus)
    Aves CHST81 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more 62.08(n)
    67.39(a)
      769263  XM_001232498.2  XP_001232499.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHST86
    --
    --
    80(a)
    35(a)
    1 ↔ 1
    possible ortholog
    GL343508.1(213329-213679)
    1(41682324-41690943)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW641290.12   -- 75.64(n)    AW641290.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj18f042 Transcribed sequence with weak similarity to protein more 75.97(n)    BI428497.1 


    ENSEMBL Gene Tree for CHST8 (if available)
    TreeFam Gene Tree for CHST8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHST8 gene
    CHST122  CHST132  CHST92  CHST112  CHST102  CHST142  
    5 SIMAP similar genes for CHST8 using alignment to 2 protein entries:     CHST8_HUMAN (see all proteins):
    CHST9    CHST11    CHST13    CHST10    CHST12

    CHST8 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3341 SNPs in CHST8 are shown (see all 3341)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365384
    A colorectal cancer sample4--see VAR_0365382 R H mis40--------
    rs1400389661,2
    C--30617514(+) TCCTC-/TTTTTT 2 -- int10--------
    rs1116862511,2
    C--30620479(+) TGCCTC/-TTTTG 2 -- int12Minor allele frequency- -:0.25CSA 4
    rs724199081,2
    C--30620480(+) GCCTT-/CTTTGG 2 -- int10--------
    rs1422444331,2
    C--30623171(+) TTCCT-/TGTTGTG 2 -- int10--------
    rs1132350111,2
    C--30623172(+) TTCCTTGTG/-  
            
    TGTGT
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs124618671,2
    C,A,H--30640912(+) tttttC/Tttttt 2 -- int1 trp30--------
    rs1393759521,2
    --30640918(+) TTTTT-/CTTTTT 2 -- int10--------
    rs1115592461,2
    C--30655973(+) AAGATG/-GCAAA 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs104193191,2
    C,F,H--30677630(+) TGTCGA/G/TTGCGT 3 -- int122NS EA NA WA CSA 2528

    HapMap Linkage Disequilibrium report for CHST8 (34112861 - 34264414 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for CHST8 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1416262CNV Deletion17803354
    esv2718477CNV Deletion23290073
    esv2718479CNV Deletion23290073
    esv2718478CNV Deletion23290073
    nsv507894CNV Insertion20534489
    esv1700346CNV Insertion17803354
    nsv509736CNV Insertion20534489
    esv33416CNV Loss17666407
    nsv833809CNV Loss17160897
    esv23382CNV Loss19812545


    Human Gene Mutation Database (HGMD): CHST8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHST8
    DNA2.0 Custom Variant and Variant Library Synthesis for CHST8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610190    OMIM disorders: --

    UniProtKB/Swiss-Prot: CHST8_HUMAN, Q9H2A9
  • Note=CHST8 mutations may be a cause of generalized non-inflammatory peeling skin syndrome type A
    (PubMed:22289416). Peeling skin syndrome (PSS) is a genodermatosis characterized by continuous shedding of the
    outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS
    (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with
    water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with
    generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy
    peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high
    IgE levels

  • 8 diseases for CHST8:    About MalaCards
    peeling skin syndrome    scrapie    clubfoot    prion disease
    atopy    obesity    schizophrenia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for CHST8:
    Clubfoot

    CHST8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHST8
    Human Genome Epidemiology (HuGE) Navigator: CHST8 (3 documents)

    Export disorders for CHST8 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)
    About This Section

    PubMed articles for CHST8 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with CHST8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of GalNAc 4-sulfotransferase expressed in human pituitary gland. (PubMed id 11001942)1, 2, 3 Okuda T....Habuchi O. (2000)
    2. Molecular cloning and expression of the pituitary glycoprotein hormone N-acetylgalactosamine-4-O-sulfotransferase. (PubMed id 10988300)1, 2, 3 Xia G.... Baenziger J.U. (2000)
    3. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. (PubMed id 22289416)1, 2 Cabral R.M....Christiano A.M. (2012)
    4. Genome-wide pharmacogenomic study of neurocognition a s an indicator of antipsychotic treatment response in schizophrenia. (PubMed id 21107309)1, 4 McClay J.L....van den Oord E.J. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Analyses of shared genetic factors between asthma and obesity in children. (PubMed id 20816195)1, 4 MelAcn E....Lasky-Su J. (2010)
    7. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PubMed id 19079260)1, 4 Thorleifsson G....Stefansson K. (2009)
    8. Glycosylation-related gene expression in prion diseases: PrPSc accumulation in scrapie infected GT1 cells depends on beta-1,4-linked GalNAc-4-SO4 hyposulfation. (PubMed id 15632154)1, 2 Barret A.... Gallet P.F. (2005)
    9. 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. (2004)
    10. Molecular cloning and expression of two distinct human N- acetylgalactosamine 4-O-sulfotransferases that transfer sulfate to GalNAc beta 1->4GlcNAc beta 1->R in both N- and O-glycans. (PubMed id 11445554)1, 2 Hiraoka N.... Fukuda M. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64377 HGNC: 15993 AceView: CHST8 Ensembl:ENSG00000124302 euGenes: HUgn64377
    ECgene: CHST8 H-InvDB: CHST8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHST8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHST8 gene:
    Search GeneIP for patents involving CHST8

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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