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

CHST14 Gene

protein-coding   GIFtS: 56
GCID: GC15P040763

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

(Previous name: dermatan 4 sulfotransferase 1)
(Previous symbol: D4ST1)
  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 141 2     Carbohydrate Sulfotransferase 142
D4ST11 2 3 5     D4ST-13
Dermatan 4 Sulfotransferase 11 2     EC 2.8.2.353
ATCS2 5     Dermatan 4-Sulfotransferase 13
HNK1ST2     hD4ST13

External Ids:    HGNC: 244641   Entrez Gene: 1131892   Ensembl: ENSG000001691057   OMIM: 6084295   UniProtKB: Q8NCH03   

Export aliases for CHST14 gene to outside databases

Previous GC identifers: GC15P038551 GC15P017607


(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 CHST14 Gene:
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the
C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated
with adducted thumb-clubfoot syndrome.(provided by RefSeq, Mar 2010)

GeneCards Summary for CHST14 Gene: 
CHST14 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14) is a protein-coding gene. Diseases associated with CHST14 include adducted thumb and clubfoot syndrome, and ehlers-danlos syndrome, musculocontractural type, and among its related super-pathways are chondroitin sulfate biosynthesis and Metabolism of carbohydrates. GO annotations related to this gene include phosphate ion binding and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST12.

UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
Function: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of
dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate.
Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic
acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA-
than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of
sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an
important role in the formation of the cerbellar neural network during postnatal brain development

Gene Wiki entry for CHST14 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHST14 gene promoter:
         Tal-1   Sp1   NRSF form 1   RelA   Nkx2-5   NF-kappaB   E47   HEN1   Zic3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHST14 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHST14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHST14


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

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q15.1

CHST14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST14 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P040763:  view genomic region     (about GC identifiers)

Start:
40,763,160 bp from pter      End:
40,765,357 bp from pter
Size:
2,198 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: CHSTE_HUMAN, Q8NCH0 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 14  
Size: 376 amino acids; 42997 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Sequence caution: Sequence=AAQ88811.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6PJ31 Q6UXA0 Q96P94

Explore the universe of human proteins at neXtProt for CHST14: NX_Q8NCH0

Explore proteomics data for CHST14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NCH0

  • CHST14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHST14 Protein Expression
    REFSEQ proteins: NP_569735.1  
    ENSEMBL proteins: 
     ENSP00000453882   ENSP00000307297  
    Reactome Protein details: Q8NCH0
    Human Recombinant Protein Products for CHST14: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHST14 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral to membrane NAS11470797

    CHST14 for ontologies           About GeneDecksing



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    (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 Q8NCH0

    ProtoNet protein and cluster: Q8NCH0

    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
    Similarity: Belongs to the sulfotransferase 2 family


    CHST14 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: CHSTE_HUMAN, Q8NCH0
    Function: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of
    dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate.
    Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic
    acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA-
    than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of
    sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an
    important role in the formation of the cerbellar neural network during postnatal brain development
    Catalytic activity: 3'-phospho-5'-adenylyl sulfate + [dermatan]-N-acetyl-D-galactosamine = adenosine
    3',5'-bisphosphate + [dermatan]- 4-O-sulfo-N-acetyl-D-galactosamine

         Enzyme Number (IUBMB): EC 2.8.2.351

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001537N-acetylgalactosamine 4-O-sulfotransferase activity IDA11470797
    GO:0005515protein binding ----
    GO:0008146sulfotransferase activity ----
    GO:0042301phosphate ion binding NAS11470797
         
    CHST14 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CHST14:
     Decreased viability with pacli  Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         1 MGI phenotypic allele for Chst14 (no phenotypes)

    CHST14 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chst14tm1Lex for CHST14

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHST14 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHST14

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHST14 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHST14 

    miRNA
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    miRTarBase miRNAs that target CHST14:
    hsa-mir-124 (MIRT004912)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHST14
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate CHST14 (see all 11):
    hsa-miR-4254 hsa-miR-588 hsa-miR-548k hsa-miR-1911* hsa-miR-544b hsa-miR-124 hsa-miR-9 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidCHST14 3' UTR sequence
    Inhib. RNA
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    (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 CHST14 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1chondroitin sulfate biosynthesis
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.74
    dermatan sulfate biosynthesis0.64
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Glycosaminoglycan metabolism0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS I - Hurler syndrome0.48
    MPS IV - Morquio syndrome B0.48
    MPS IX - Natowicz syndrome0.48
    3A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54
    4CS/DS degradation
    Dermatan sulfate biosynthesis0.44
    5Biological oxidations
    metapathway biotransformation0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CHST14
        dermatan sulfate biosynthesis (late stages)
    metapathway biotransformation
    dermatan sulfate biosynthesis

    5/18        Reactome Pathways for CHST14 (see all 18)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Dermatan sulfate biosynthesis


    1         Kegg Pathway  (Kegg details for CHST14):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate


    CHST14 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHST14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for CHST14 (ENSP000003072974) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHST15ENSP000003339474STRING: ENSP00000333947
    CSPG4ENSP000003125064STRING: ENSP00000312506
    DCNENSP000000527544STRING: ENSP00000052754
    DSEENSP000003321514STRING: ENSP00000332151
    BCANENSP000003312104STRING: ENSP00000331210
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0016051carbohydrate biosynthetic process IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030208dermatan sulfate biosynthetic process TAS--

    CHST14 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

    CHST14 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHST14 (CHSTE)

    2 HMDB Compounds for CHST14    About this table
    CompoundSynonyms CAS #PubMed Ids
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    Iduronic acidL-Iduronate (see all 3)3402-98-0--

    6 Novoseek inferred chemical compound relationships for CHST14 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iduronic acid 94.3 4 19661164 (2), 11470797 (1)
    dermatan 92.9 4 12847091 (1), 19661164 (1), 11470797 (1)
    chondroitin 86.2 1 11445554 (1)
    dermatan sulfate 83.1 7 19661164 (3), 12847091 (1), 20004762 (1)
    chondroitin sulfate 68.3 1 12847091 (1)
    sulfate 61.9 4 11470797 (3), 12847091 (1)

    Search CenterWatch for drugs/clinical trials and news about CHST14 / CHSTE

    (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 CHST14 gene: 
    NM_130468.3  

    Unigene Cluster for CHST14:

    Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
    Hs.442449  [show with all ESTs]
    Unigene Representative Sequence: NM_130468
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559991 ENST00000306243(uc001zlw.3)
    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate CHST14 (see all 11):
    hsa-miR-4254 hsa-miR-588 hsa-miR-548k hsa-miR-1911* hsa-miR-544b hsa-miR-124 hsa-miR-9 hsa-miR-3613-3p
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    Additional mRNA sequence: 

    AB066595.1 AF282905.1 AF401222.1 AK074739.1 AY358446.1 BC009883.2 BC023653.2 BC049214.1 
    BC053633.1 

    2 DOTS entries:

    DT.445484  DT.97774106 

    24/98 AceView cDNA sequences (see all 98):

    BQ128330 BQ021169 BI711377 CD636073 AI217275 AL040909 BM803102 BM988613 
    BQ018416 AY358446 BC009883 NM_130468 BC053633 BQ270626 AF401222 BC049214 
    AI610359 AA737909 BC023653 CN485282 AB066595 BM724090 BE902668 AI364550 

    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™, 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

    CHST14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTCAGGA
    CHST14 Expression
    About this image


    See CHST14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHST14

    SOURCE GeneReport for Unigene cluster: Hs.442449

    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
    Tissue specificity: Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST14

    (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 CHST14 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 Chst141 , 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more1, 5 88.56(n)1
    92.82(a)1
      2 (59.73 cM)5
    721361  NM_028117.31  NP_082393.31 
     1189264965 
    chicken
    (Gallus gallus)
    Aves CHST141 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more 69.95(n)
    68.17(a)
      770193  XM_003641286.1  XP_003641334.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHST146
    Uncharacterized protein
    66(a)
    1 ↔ 1
    6(53505582-53506706)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL956280.22   -- 86.27(n)    AL956280.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125102 Danio rerio zD4ST-1 mRNA for dermatan 4-sulfotransferase-1, more 78.02(n)    AB089140.1 


    ENSEMBL Gene Tree for CHST14 (if available)
    TreeFam Gene Tree for CHST14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHST14 gene
    CHST122  CHST132  CHST92  CHST112  CHST102  CHST82  
    2 SIMAP similar genes for CHST14 using alignment to 2 protein entries:     CHSTE_HUMAN (see all proteins):
    CHST11    CHST13

    CHST14 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

    10/124 SNPs in CHST14 are shown (see all 124)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0645564
    Ehlers-Danlos syndrome, musculocontractural type (EDSMC)4--see VAR_0645562 C S mis40--------
    VAR_0637554
    Ehlers-Danlos syndrome, musculocontractural type (EDSMC)4--see VAR_0637552 L Q mis40--------
    VAR_0645554
    Ehlers-Danlos syndrome, musculocontractural type (EDSMC)4--see VAR_0645552 P L mis40--------
    VAR_0637544
    Ehlers-Danlos syndrome, musculocontractural type (EDSMC)4--see VAR_0637542 R G mis40--------
    rs1114048521,2
    F--17605076(+) GACCAG/TGTTCC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1892000111,2
    --17605210(+) TGGTGA/GCACAG 1 -- us2k10--------
    rs1136139011,2
    C,F--17605254(+) GTGTGG/CTGTCC 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs1816276501,2
    --17605308(+) AGACAA/GGAAAT 1 -- us2k10--------
    rs1469626901,2
    --17605395(+) ACACAC/GAAGGG 1 -- us2k10--------
    rs64929471,2
    C,F,A,H--17605407(+) GCACAC/TGTGGC 1 -- us2k128Minor allele frequency- T:0.48NS EA NA WA CSA 2710

    HapMap Linkage Disequilibrium report for CHST14 (40763160 - 40765357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHST14:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv34145CNV Loss18971310


    Human Gene Mutation Database (HGMD): CHST14

    Locus Specific Mutation Databases (LSDB): CHST14
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHST14
    DNA2.0 Custom Variant and Variant Library Synthesis for CHST14

    (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: 608429   
    OMIM disorders: 601776  
    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
  • Ehlers-Danlos syndrome, musculocontractural type (EDSMC) [MIM:601776]: A form of Ehlers-Danlos syndrome
    characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet,
    severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic
    scarring, wrinkled palms, joint hypermobility, and ocular involvement. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for CHST14:    About MalaCards
    adducted thumb and clubfoot syndrome    ehlers-danlos syndrome, musculocontractural type    clubfoot    tethered spinal cord syndrome
    congenital contractures    ehlers-danlos syndrome    morquio syndrome b    hypotonia
    thyroid cancer    thyroiditis

    3 diseases from the University of Copenhagen DISEASES database for CHST14:
    Thyroid cancer     Clubfoot     Ehlers-Danlos syndrome

    CHST14 for disorders           About GeneDecksing


    Export disorders for CHST14 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 CHST14 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with CHST14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a dermatan-specific N- acetylgalactosamine 4-O-sulfotransferase. (PubMed id 11470797)1, 2, 3, 9 Evers M.R.... Baenziger J.U. (2001)
    2. Dermatan 4-O-sulfotransferase 1 is pivotal in the for mation of iduronic acid blocks in dermatan sulfate. (PubMed id 19661164)1, 2, 9 Pacheco B....MalmstrAPm A. (2009)
    3. Specificities of three distinct human chondroitin/dermatan N- acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor. Implication of differential roles in dermatan sulfate biosynthesis. (PubMed id 12847091)1, 2, 9 Mikami T.... Sugahara K. (2003)
    4. Loss of dermatan-4-sulfotransferase 1 function result s in adducted thumb-clubfoot syndrome. (PubMed id 20004762)1, 2, 9 DA1ndar M....Janecke A.R. (2009)
    5. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (PubMed id 20533528)1, 2 Miyake N....Matsumoto N. (2010)
    6. Musculocontractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. (PubMed id 20842734)1, 2 Malfait F.... De Paepe A. (2010)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 113189 HGNC: 24464 AceView: D4ST1 Ensembl:ENSG00000169105 euGenes: HUgn113189
    ECgene: CHST14 Kegg: 113189 H-InvDB: CHST14

    (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 CHST14 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 CHST14 gene:
    Search GeneIP for patents involving CHST14

    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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