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CHST6 Gene

protein-coding   GIFtS: 61
GCID: GC16M075508

Carbohydrate (N-Acetylglucosamine 6-O) Sulfotransferase...


(Previous symbol: MCDC1)
  See CHST6-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Carbohydrate (N-Acetylglucosamine 6-O) Sulfotransferase 61 2     Corneal N-Acetylglucosamine 6-Sulfotransferase2
MCDC11 2 5     glcNAc6ST-52
Corneal N-Acetylglucosamine-6-O-Sulfotransferase2 3     gn6st-52
Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase
4-Beta2 3
     EC 2.8.2.-3
C-GlcNAc6ST2 3     GlcNAc6ST-53
GST4-beta2 3     Gn6st-53
hCGn6ST2 3     EC 2.8.28
N-Acetylglucosamine 6-O-Sulfotransferase 52 3     EC 2.8.2.178
Carbohydrate Sulfotransferase 62     EC 2.8.2.218

External Ids:    HGNC: 69381   Entrez Gene: 41662   Ensembl: ENSG000001831967   OMIM: 6052945   UniProtKB: Q9GZX33   
ORGUL members:         

Export aliases for CHST6 gene to outside databases

Previous GC identifers: GC16M066440 GC16M076471 GC16M075245 GC16M075286 GC16M074064 GC16M061258


(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 CHST6 Gene:
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc
residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of
macular corneal dystrophy (MCD). (provided by RefSeq, Jan 2010)

GeneCards Summary for CHST6 Gene:
CHST6 (carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6) is a protein-coding gene. Diseases associated with CHST6 include macular corneal dystrophy, and astigmatism. GO annotations related to this gene include N-acetylglucosamine 6-O-sulfotransferase activity. An important paralog of this gene is CHST4.

UniProtKB/Swiss-Prot: CHST6_HUMAN, Q9GZX3
Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the
transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates
sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on
the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine
structures

Gene Wiki entry for CHST6 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_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHST6 gene promoter:
         AREB6   NF-1/L   NF-1   AML1a   NF-kappaB1   NF-kappaB   NF-E2   NF-E2 p45   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHST6 promoter sequence
   Search Chromatin IP Primers for CHST6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHST6


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

Entrez Gene cytogenetic band: 16q22   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q22

CHST6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST6 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M075508:  view genomic region     (about GC identifiers)

Start:
75,507,022 bp from pter      End:
75,529,282 bp from pter
Size:
22,261 bases      Orientation:
minus strand

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CHST6_HUMAN, Q9GZX3 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 6  
Size: 395 amino acids; 44099 Da
Caution: PubMed:12824236 reported a Gly-204 variant, however according to their results reported in figure 1, it
is a Gln-204 variant
Secondary accessions: D3DUK3

Explore the universe of human proteins at neXtProt for CHST6: NX_Q9GZX3

Explore proteomics data for CHST6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn116, Asn229, Asn305, Asn328
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHST6 (Q9GZX3) (see all 5)
     LVRDPRAV  LHMAVRDL  VVLKEVRF  RSGSSFVGQLF 


    See CHST6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067628.1  
    ENSEMBL proteins: 
     ENSP00000328983   ENSP00000375079  
    Reactome Protein details: Q9GZX3

    CHST6 Human Recombinant Protein Products:

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    Novus Biologicals CHST6 Protein
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    Cloud-Clone Corp. Proteins for CHST6

     
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    antibodies-online proteins for CHST6 (4 products) 

     
    antibodies-online peptides for CHST6

    CHST6 Antibody Products:

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    antibodies-online antibodies for CHST6 (23 products) 

    CHST6 Assay Products:

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    antibodies-online kits for CHST6 (2 products) 


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

    3 InterPro protein domains:
     IPR016469 Carbohydrate_sulfotransferase
     IPR000863 Sulfotransferase_dom
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9GZX3

    ProtoNet protein and cluster: Q9GZX3

    UniProtKB/Swiss-Prot: CHST6_HUMAN, Q9GZX3
    Similarity: Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily


    Find genes that share domains with CHST6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: CHST6_HUMAN, Q9GZX3
    Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the
    transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates
    sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on
    the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine
    structures

         Enzyme Numbers (IUBMB): EC 2.8.2.-1 EC 2.8.2.172 EC 2.8.2.212 EC 2.8.22

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001517N-acetylglucosamine 6-O-sulfotransferase activity TAS11181564
    GO:0008146sulfotransferase activity ----
         
    Find genes that share ontologies with CHST6           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CHST6

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHST6:
    hsa-mir-335-5p (MIRT017806), hsa-let-7c-5p (MIRT051817), hsa-mir-124-3p (MIRT022612)

    Block miRNA regulation of human, mouse, rat CHST6 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CHST6:
    hsa-miR-587 hsa-miR-676 hsa-miR-548p hsa-miR-2355-3p hsa-miR-4293
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHST6

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST6


    (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
    CHST6_HUMAN, Q9GZX3: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular3
    cytosol1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus TAS11181564
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CHST6           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 CHST6 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Glycosaminoglycan biosynthesis - keratan sulfate0.43
    Keratan sulfate biosynthesis0.85
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Biological oxidations
    metapathway biotransformation0.42
    4Metabolism
    Metabolism0.38
    5Disease
    Disease


    Find genes that share SuperPaths with CHST6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CHST6
        Articular Cartilage Extracellular Matrix


    1 BioSystems Pathway for CHST6
        metapathway biotransformation

    1 Reactome Pathway for CHST6
        Keratan sulfate biosynthesis


    1 Kegg Pathway  (Kegg details for CHST6):
        Glycosaminoglycan biosynthesis - keratan sulfate

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHST6
    Interactions:

        GeneGlobe Interaction Network for CHST6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CHST6 (ENSP000003289834) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHST1ENSP000003092704STRING: ENSP00000309270
    KERAENSP000002667194STRING: ENSP00000266719
    LUMENSP000002667184STRING: ENSP00000266718
    OGNENSP000002625514STRING: ENSP00000262551
    ST3GAL3ENSP000002629154STRING: ENSP00000262915
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006044N-acetylglucosamine metabolic process IDA11352640
    GO:0006790sulfur compound metabolic process IDA11352640
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--

    Find genes that share ontologies with CHST6           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHST6

    2 HMDB Compounds for CHST6    About this table
    CompoundSynonyms CAS #PubMed Ids
    KeratanKerato sulfate (see all 4)69992-87-6--
    Poly-N-acetyllactosaminePoly(N-acetyllactosamine) (see all 6)82441-98-3--

    4 Novoseek inferred chemical compound relationships for CHST6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    keratan sulfate 86.8 15 11278593 (4), 12218059 (4), 10510083 (1), 11352640 (1) (see all 5)
    n-acetylglucosamine 67.5 11 12672413 (1), 10510083 (1), 11278593 (1), 12882769 (1) (see all 7)
    sulfate 32.1 5 11278593 (2), 12218059 (1)
    galactose 23.1 1 10510083 (1)



    Find genes that share compounds with CHST6           About GenesLikeMe



    (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 CHST6 gene: 
    NM_021615.4  

    Unigene Cluster for CHST6:

    Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
    Hs.655622  [show with all ESTs]
    Unigene Representative Sequence: NM_021615
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332272(uc002fef.3 uc002feg.1 uc002feh.1) ENST00000390664

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate CHST6:
    hsa-miR-587 hsa-miR-676 hsa-miR-548p hsa-miR-2355-3p hsa-miR-4293
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CHST6
      QuantiFast Probe-based Assays in human, mouse, rat CHST6

    Additional mRNA sequence: 

    AF280086.1 AK093904.1 AK311527.1 BC036640.1 BC041645.1 BC074834.2 BC074883.2 

    5 DOTS entries:

    DT.99997725  DT.438406  DT.91959070  DT.100643414  DT.75153978 

    Selected AceView cDNA sequences (see all 30):

    BC074834 BC074883 BM715071 BX280599 BQ181684 BU679155 AF280086 CK431218 
    BU739978 AI824100 AI362200 NM_021615 BU678606 AI824198 BU859309 AW151502 
    AI991572 BC041645 AI375973 BC036640 BG107354 BM046901 BM047763 AF219990 

    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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    CHST6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGGAGAG
    CHST6 Expression
    About this image

    CHST6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHST6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655622

    UniProtKB/Swiss-Prot: CHST6_HUMAN, Q9GZX3
    Tissue specificity: Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST6

    (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 CHST6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chst51 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase more 81.43(n)
    83.04(a)
      56773  NM_019950.2  NP_064334.1 
    chicken
    (Gallus gallus)
    Aves CHST61 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase more 61.76(n)
    65.89(a)
      770257  XM_004944360.1  XP_004944417.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    GL343483.1(236337-237652)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chst61 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase more 59.21(n)
    64.02(a)
      100495636  XM_004913609.1  XP_004913666.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641662 hypothetical protein MGC64166 74.76(n)   393358  BC053293.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG316371 CG31637 48.23(n)
    33.69(a)
      33914  NM_135199.2  NP_609043.1 


    ENSEMBL Gene Tree for CHST6 (if available)
    TreeFam Gene Tree for CHST6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHST6 gene
    CHST42  CHST12  CHST22  CHST32  CHST72  CHST52  
    6 SIMAP similar genes for CHST6 using alignment to 5 protein entries:     CHST6_HUMAN (see all proteins):
    CHST5    CHST4    CHST2    CHST1    CHST3    CHST7

    Find genes that share paralogs with CHST6           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 CHST6 (see all 752)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2021754441,2,,4
    Macular dystrophy, corneal, 1 (MCDC1)4 --76525565(+) CTCCCA/GGGAGC 2 R W mis10--------
    rs289378781,2,,4
    CMacular dystrophy, corneal, 1 (MCDC1)4 pathogenic176525587(-) CGCGAA/CCCGCG 2 E D mis1 ese30--------
    rs289378791,2,,4
    CMacular dystrophy, corneal, 1 (MCDC1)4 pathogenic176525597(-) GCACCG/TGGTGC 2 R L mis1 ese30--------
    rs289378771,2,,4
    CMacular dystrophy, corneal, 1 (MCDC1)4 pathogenic176525675(-) GCTCAA/GGGAGG 2 K R mis1 ese30--------
    rs1174356471,2,,4
    C,FMacular dystrophy, corneal, 1 (MCDC1)4 --76525712(+) CTCCCG/CGGCCA 2 /R /G mis12Minor allele frequency- C:0.05NA EU 1055
    VAR_0214264
    Macular dystrophy, corneal, 1 (MCDC1)4--see VAR_0214262 N T mis40--------
    VAR_0214634
    Macular dystrophy, corneal, 1 (MCDC1)4--see VAR_0214632 D E mis40--------
    VAR_0214294
    Macular dystrophy, corneal, 1 (MCDC1)4--see VAR_0214292 M L mis40--------
    VAR_0214344
    Macular dystrophy, corneal, 1 (MCDC1)4--see VAR_0214342 S W mis40--------
    VAR_0214454
    Macular dystrophy, corneal, 1 (MCDC1)4--see VAR_0214452 L P mis40--------

    HapMap Linkage Disequilibrium report for CHST6 (75507022 - 75529282 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CHST6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672875CNV Deletion23128226
    esv2714710CNV Deletion23290073
    nsv525955CNV Loss19592680
    nsv457521CNV Gain19166990
    esv1007873CNV Gain20482838
    dgv2913n71CNV Gain21882294
    nsv516675CNV Gain+Loss19592680
    nsv906917CNV Gain+Loss21882294
    dgv902e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CHST6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHST6
    DNA2.0 Custom Variant and Variant Library Synthesis for CHST6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605294   
    OMIM disorders: 217800  
    UniProtKB/Swiss-Prot: CHST6_HUMAN, Q9GZX3
  • Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]: An ocular disease characterized by bilateral,
    progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually
    between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in
    most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular
    space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal
    dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally
    sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea.
    Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan
    sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the
    population examined. Note=The disease is caused by mutations affecting the gene represented in this entry. CHST6
    homozygous missense mutations have been observed in patients with macular corneal dystrophy type I, while type II
    patients show a large deletion and replacement in the upstream region of CHST6. The only missense mutation for
    type II is Cys-50, which is heterozygous with a replacement in the upstream region on the other allele of CHST6

  • 5 diseases for CHST6:    
    About MalaCards
    macular corneal dystrophy    astigmatism    irregular astigmatism    corneal disease
    corneal dystrophy

    2 diseases from the University of Copenhagen DISEASES database for CHST6:
    Corneal dystrophy     Irregular astigmatism

    Find genes that share disorders with CHST6           About GenesLikeMe

    2 Novoseek inferred disease relationships for CHST6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    corneal dystrophy, macular type 93.7 3 15953452 (1), 17093400 (1)
    corneal diseases 71.7 2 16568029 (1), 12700042 (1)

    Genetic Association Database (GAD): CHST6
    Human Genome Epidemiology (HuGE) Navigator: CHST6 (1 document)

    Export disorders for CHST6 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 CHST6 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with CHST6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. (PubMed id 15013869)1, 2, 4, 9 Aldave A.J....Small K. (Am. J. Ophthalmol. 2004)
    2. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (PubMed id 14609920)1, 2, 4, 9 Warren J.F.... Margolis T.P. (Arch. Ophthalmol. 2003)
    3. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (PubMed id 11017086)1, 2, 3, 9 Akama T.O.... Fukuda M.N. (Nat. Genet. 2000)
    4. Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. (PubMed id 12882769)1, 2, 9 Iida-Hasegawa N.... Kanai A. (Invest. Ophthalmol. Vis. Sci. 2003)
    5. Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. (PubMed id 14735064)1, 2, 9 Sultana A.... Klintworth G.K. (Mol. Vis. 2003)
    6. Novel mutations in the CHST6 gene causing macular corneal dystrophy. (PubMed id 14984470)1, 2, 9 Abbruzzese C.... De Luca M. (Clin. Genet. 2004)
    7. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. (PubMed id 12824236)1, 2, 9 Niel F.... Valleix S. (Invest. Ophthalmol. Vis. Sci. 2003)
    8. Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. (PubMed id 12218059)1, 2, 9 Akama T.O.... Fukuda M.N. (J. Biol. Chem. 2002)
    9. Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). (PubMed id 11352640)1, 2, 9 Bartes A.... Hemmerich S. (Biochem. Biophys. Res. Commun. 2001)
    10. Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. (PubMed id 11139648)1, 2, 9 Liu N.-P.... Klintworth G.K. (Mol. Vis. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
    About This Section

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    Entrez Gene: 4166 HGNC: 6938 AceView: CHST6 Ensembl:ENSG00000183196 euGenes: HUgn4166
    ECgene: CHST6 Kegg: 4166 H-InvDB: CHST6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CHST6 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=CHST6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHST6 gene:
    Search GeneIP for patents involving CHST6

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



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