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CHST3 Gene

protein-coding   GIFtS: 62
GCID: GC10P073724

Carbohydrate (Chondroitin 6) Sulfotransferase 3

  See CHST3-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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Aliases
Carbohydrate (Chondroitin 6) Sulfotransferase 31 2     C6ST2 5
Chondroitin 6-O-Sulfotransferase 12 3     C6ST12 5
Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 02 3     HSD2 5
C6ST-12 3     Carbohydrate Sulfotransferase 32
GST-02 3     Chondroitin 6-Sulfotransferase3
EC 2.8.2.173 8     EC 2.8.28

External Ids:    HGNC: 19711   Entrez Gene: 94692   Ensembl: ENSG000001228637   OMIM: 6037995   UniProtKB: Q7LGC83   

Export aliases for CHST3 gene to outside databases

Previous GC identifers: GC10P072502 GC10P072827 GC10P073616 GC10P073068 GC10P073394 GC10P067718


(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 CHST3 Gene:
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the
extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this
gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. (provided by RefSeq, Mar 2009)

GeneCards Summary for CHST3 Gene:
CHST3 (carbohydrate (chondroitin 6) sulfotransferase 3) is a protein-coding gene. Diseases associated with CHST3 include enophthalmos, and larsen syndrome, autosomal recessive. GO annotations related to this gene include sulfotransferase activity and chondroitin 6-sulfotransferase activity. An important paralog of this gene is CHST4.

UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8
Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the
transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin
sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many
cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan,
and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the
maintenance of naive T-lymphocytes in the spleen




(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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHST3 gene promoter:
         E2F-2   RelA   HNF-4alpha2   HNF-3beta   HNF-4alpha1   E2F   E2F-1   Sox9   STAT3   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHST3 promoter sequence
   Search Chromatin IP Primers for CHST3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHST3


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

CHST3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P073724:  view genomic region     (about GC identifiers)

Start:
73,724,120 bp from pter      End:
73,773,322 bp from pter
Size:
49,203 bases      Orientation:
plus 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: CHST3_HUMAN, Q7LGC8 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 3  
Size: 479 amino acids; 54706 Da
Secondary accessions: O75099 Q52M30

Explore the universe of human proteins at neXtProt for CHST3: NX_Q7LGC8

Explore proteomics data for CHST3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn63, Asn74, Asn96, Asn256, Asn420, Asn464
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHST3 (Q7LGC8) (see all 7)
     LVRDPRAV  YMLVRYED  SSEQFEKWR  GSALVYRDVL 


    See CHST3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004264.2  
    ENSEMBL proteins: 
     ENSP00000362207  
    Reactome Protein details: Q7LGC8

    CHST3 Human Recombinant Protein Products:

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    Novus Biologicals CHST3 Protein
    Novus Biologicals CHST3 Lysate
    Sino Biological Recombinant Protein for CHST3
    Sino Biological Cell Lysate for CHST3
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHST3

     
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    antibodies-online proteins for CHST3 (3 products) 

     
    antibodies-online peptides for CHST3

    CHST3 Antibody Products:

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    antibodies-online antibodies for CHST3 (22 products) 

    CHST3 Assay Products:

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    Cloud-Clone Corp. ELISAs for CHST3
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    antibodies-online kits for CHST3 (8 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 Q7LGC8

    ProtoNet protein and cluster: Q7LGC8

    UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8
    Similarity: Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily


    Find genes that share domains with CHST3           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: CHST3_HUMAN, Q7LGC8
    Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the
    transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin
    sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many
    cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan,
    and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the
    maintenance of naive T-lymphocytes in the spleen
    Catalytic activity: 3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin
    6'-sulfate

         Enzyme Numbers (IUBMB): EC 2.8.2.171 2 EC 2.8.22

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity TAS9883891
    GO:0008459chondroitin 6-sulfotransferase activity IDA9883891
    GO:0050698proteoglycan sulfotransferase activity IEA--
         
    Find genes that share ontologies with CHST3           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chst3):
     behavior/neurological  hematopoietic system  immune system  nervous system 

    Find genes that share phenotypes with CHST3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chst3tm1Tmu for CHST3

       genOway: Develop your customized and physiologically relevant rodent model for CHST3

    miRNA
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    miRTarBase miRNAs that target CHST3:
    hsa-mir-98-5p (MIRT027845), hsa-mir-122-5p (MIRT023379)

    Block miRNA regulation of human, mouse, rat CHST3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHST3 (see all 57):
    hsa-miR-4291 hsa-miR-607 hsa-miR-330-5p hsa-let-7d hsa-miR-1304 hsa-let-7g hsa-miR-1276 hsa-miR-629*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHST3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CHST3 (NM_004273)
    Sino Biological Human cDNA Clone for CHST3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHST3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHST3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST3


    (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
    CHST3_HUMAN, Q7LGC8: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol2
    extracellular1
    mitochondrion1
    nucleus1
    plasma membrane1

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

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

    Find genes that share ontologies with CHST3           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 CHST3 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIID - Sanfilippo syndrome D0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS I - Hurler syndrome0.45
    MPS IV - Morquio syndrome A0.45
    MPS IV - Morquio syndrome B0.45
    MPS IIIA - Sanfilippo syndrome A0.45
    MPS VII - Sly syndrome0.45
    2Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00
    Chondroitin sulfate biosynthesis0.41
    3Biological oxidations
    metapathway biotransformation0.42
    4Metabolism
    Metabolism0.38
    5Disease
    Disease


    Find genes that share SuperPaths with CHST3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CHST3
        Articular Cartilage Extracellular Matrix


    3 BioSystems Pathways for CHST3
        chondroitin sulfate biosynthesis (late stages)
    metapathway biotransformation
    chondroitin sulfate biosynthesis


    1 Reactome Pathway for CHST3
        Chondroitin sulfate biosynthesis


    1 Kegg Pathway  (Kegg details for CHST3):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHST3
    Interactions:

        Search GeneGlobe Interaction Network for CHST3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CHST3 (ENSP000003622074) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BGNENSP000003273364STRING: ENSP00000327336
    CHPFENSP000002437764STRING: ENSP00000243776
    CHST11ENSP000003057254STRING: ENSP00000305725
    CHST12ENSP000002587114STRING: ENSP00000258711
    CHST13ENSP000003174044STRING: ENSP00000317404
    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:0006790sulfur compound metabolic process IDA9883891
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030206chondroitin sulfate biosynthetic process TAS--

    Find genes that share ontologies with CHST3           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 CHST3

    5 HMDB Compounds for CHST3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine 3',5'-diphosphate3,5-Diphosphoadenosine (see all 10)1053-73-2--
    ChondroitinChondroitin-D-glucuronate (see all 5)9007-27-6--
    KeratanKerato sulfate (see all 4)69992-87-6--
    N-AcetyllactosamineD-galactopyranosyl (see all 8)32181-59-2--
    Phosphoadenosine phosphosulfate3'-Phospho-5'-adenylyl sulfate (see all 9)482-67-7--

    9 Novoseek inferred chemical compound relationships for CHST3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondroitin 91.9 48 1751554 (5), 9714738 (2), 11056388 (2), 9883891 (2) (see all 17)
    3-phosphoadenosine 5'-phosphosulfate 87.1 5 8991509 (1), 7629189 (1), 15215498 (1)
    keratan sulfate 84.4 9 8991509 (2), 10781596 (1), 7629189 (1), 9147050 (1)
    sulfate 72.3 6 18513679 (1), 8991509 (1), 7629189 (1), 9147050 (1) (see all 5)
    chondroitin sulfate 71.7 3 15215498 (2)
    n-acetylglucosamine 58.9 1 17113869 (1)
    glycosaminoglycan 48.1 1 9639683 (1)
    galactose 40 5 18697746 (4), 8991509 (1)
    heparan sulfate 38.3 2 17113869 (1)

    2 PharmGKB related drug/compound annotations for CHST3 gene    About this table
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    thalidomideCA  



    Find genes that share compounds with CHST3           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 CHST3 gene: 
    NM_004273.4  

    Unigene Cluster for CHST3:

    Carbohydrate (chondroitin 6) sulfotransferase 3
    Hs.158304  [show with all ESTs]
    Unigene Representative Sequence: NM_004273
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000373115(uc001jsn.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CHST3 (see all 57):
    hsa-miR-4291 hsa-miR-607 hsa-miR-330-5p hsa-let-7d hsa-miR-1304 hsa-let-7g hsa-miR-1276 hsa-miR-629*
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      QuantiTect SYBR Green Assays in human, mouse, rat CHST3
      QuantiFast Probe-based Assays in human, mouse, rat CHST3

    Additional mRNA sequence: 

    AB012192.1 AB017915.1 AK025251.1 BC033183.1 BC093690.1 BC104856.1 

    5 DOTS entries:

    DT.97841262  DT.121292972  DT.100814925  DT.91731394  DT.97788271 

    Selected AceView cDNA sequences (see all 126):

    AI088719 CB157152 BQ893559 BQ645302 BQ646556 BQ653571 AI421756 BQ644078 
    BQ645048 BQ227644 BC033183 BQ648391 AI990904 CA388625 BM977332 AA195219 
    BF434427 BQ649803 AI864574 BQ647499 BQ649742 AI366100 BQ064562 BU628479 

    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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    CHST3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATGAGCAA
    CHST3 Expression
    About this image


    CHST3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Liver (Hepatobiliary System)
    CHST3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHST3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158304

    UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8
    Tissue specificity: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas.
    Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST3

    (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 CHST3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chst31 , 5 carbohydrate (chondroitin 6/keratan) sulfotransferase 3 less1, 5 85.17(n)1
    86.65(a)1
      10 (29.70 cM)5
    533741  NM_016803.31  NP_058083.21 
     601815345 
    chicken
    (Gallus gallus)
    Aves CHST31 carbohydrate (chondroitin 6) sulfotransferase 3 80.27(n)
    78.27(a)
      396018  NM_205121.1  NP_990452.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHST36
    carbohydrate (chondroitin 6) sulfotransferase 3
    81(a)
    1 ↔ 1
    3(48753865-48758051)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chst31 carbohydrate (chondroitin 6) sulfotransferase 3 65.65(n)
    73.91(a)
      100492673  XM_002939517.2  XP_002939563.2 
    zebrafish
    (Danio rerio)
    Actinopterygii chst3b1 carbohydrate (chondroitin 6) sulfotransferase 3b 69.66(n)
    61.45(a)
      556800  NM_001110376.1  NP_001103846.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95506
    CG316376
    --
    20(a)
    18(a)
    many ↔ many
    many ↔ many
    2L(6497053-6498455)
    2L(6498642-6526996)


    ENSEMBL Gene Tree for CHST3 (if available)
    TreeFam Gene Tree for CHST3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHST3 gene
    CHST42  CHST12  CHST22  CHST62  CHST72  CHST52  
    4 SIMAP similar genes for CHST3 using alignment to 1 protein entry:     CHST3_HUMAN:
    CHST1    CHST4    CHST5    CHST6

    Find genes that share paralogs with CHST3           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 CHST3 (see all 1147)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375931,2,,4
    CSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)4 pathogenic174140698(+) CCCCCA/GGGCCG 2 Q R mis1 ese30--------
    VAR_0478574
    Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)4--see VAR_0478572 L P mis40--------
    VAR_0478584
    Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)4--see VAR_0478582 L P mis40--------
    VAR_0478564
    Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)4--see VAR_0478562 R W mis40--------
    VAR_0478594
    Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)4--see VAR_0478592 E K mis40--------
    rs1455387231,2
    Cpathogenic174140262(+) ACATCT/ATCTAC 2 /I /F mis11Minor allele frequency- A:0.00NA 4378
    rs359282891,2
    C--67746441(+) AAAAA-/AGTTAC 1 -- int10--------
    rs796965771,2
    --67750959(+) TCTCTA/GCGTGT 1 -- int10--------
    rs1135618021,2
    C--73722203(+) TAGAAT/CGGACC 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs741481391,2
    C,F--73722711(+) GTTGTC/AGGTTA 1 -- us2k13Minor allele frequency- A:0.07WA CSA 122

    HapMap Linkage Disequilibrium report for CHST3 (73724120 - 73773322 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CHST3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7110CNV Insertion18451855
    nsv895717CNV Loss21882294
    nsv895719CNV Loss21882294
    nsv820285CNV Loss19587683
    nsv895718CNV Loss21882294

    Human Gene Mutation Database (HGMD): CHST3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHST3
    DNA2.0 Custom Variant and Variant Library Synthesis for CHST3

    (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: 603799   
    OMIM disorders: 143095  
    UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]: A bone dysplasia
    clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with
    subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The
    disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that
    dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both
    spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading
    to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk
    shortening by late childhood. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for CHST3:    
    About MalaCards
    enophthalmos    larsen syndrome, autosomal recessive    spondyloepiphyseal dysplasia omani type    spondyloepiphyseal dysplasia with congenital joint dislocations
    spinocerebellar ataxia 29    larsen syndrome

    3 diseases from the University of Copenhagen DISEASES database for CHST3:
    Larsen syndrome     Enophthalmos     Clubfoot

    Find genes that share disorders with CHST3           About GenesLikeMe

    Genetic Association Database (GAD): CHST3
    Human Genome Epidemiology (HuGE) Navigator: CHST3 (4 documents)

    Export disorders for CHST3 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 CHST3 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with CHST3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of human chondroitin 6- sulfotransferase. (PubMed id 9714738)1, 2, 3, 9 Fukuta M.... Habuchi O. (Biochim. Biophys. Acta 1998)
    2. Functional expression and genomic structure of human chondroitin 6- sulfotransferase. (PubMed id 9883891)1, 2, 3, 9 Tsutsumi K.... Sugahara K. (FEBS Lett. 1998)
    3. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (PubMed id 18513679)1, 2, 9 Hermanns P.... Superti-Furga A. (Am. J. Hum. Genet. 2008)
    4. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. (PubMed id 15215498)1, 2, 9 Thiele H.... Mundlos S. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    6. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. (PubMed id 18398821)1, 4 Nordgard S.H....Kristensen V.N. (amp 2008)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. 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)
    9. Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1. (PubMed id 18697746)1, 9 Kitagawa H....Sugahara K. (J. Biol. Chem. 2008)
    10. Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase. (PubMed id 11056388)1, 9 Okuda T.... Habuchi O. (J. Biochem. 2000)

    (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: 9469 HGNC: 1971 AceView: CHST3 Ensembl:ENSG00000122863 euGenes: HUgn9469
    ECgene: CHST3 Kegg: 9469 H-InvDB: CHST3

    (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 CHST3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=CHST3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHST3 gene:
    Search GeneIP for patents involving CHST3

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



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