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

CHPF Gene

protein-coding   GIFtS: 55
GCID: GC02M220367

Chondroitin Polymerizing Factor

  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
Chondroitin Polymerizing Factor1 2     N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase II2 3
CSS22 3 5     N-Acetylgalactosaminyltransferase 22 3
Chondroitin Sulfate Synthase 21 2     CHSY22
Chondroitin Glucuronyltransferase 22 3     ChPF3
Chondroitin-Polymerizing Factor2 3     EC 2.4.1.1753
Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan
4-Beta-N-Acetylgalactosaminyltransferase II2 3
     EC 2.4.1.2263

External Ids:    HGNC: 242911   Entrez Gene: 795862   Ensembl: ENSG000001239897   OMIM: 6104055   UniProtKB: Q8IZ523   

Export aliases for CHPF gene to outside databases

Previous GC identifers: GC02M220606 GC02M220229 GC02M220111 GC02M212256


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

GeneCards Summary for CHPF Gene: 
CHPF (chondroitin polymerizing factor) is a protein-coding gene. Diseases associated with CHPF include morquio syndrome b, and colorectal cancer, and among its related super-pathways are dermatan sulfate biosynthesis and Metabolic pathways. GO annotations related to this gene include glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity and N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity. An important paralog of this gene is CSGALNACT1.

UniProtKB/Swiss-Prot: CHSS2_HUMAN, Q8IZ52
Function: Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers
glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end
of the elongating chondroitin polymer

Gene Wiki entry for CHPF 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_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHPF gene promoter:
         GR   Spz1   RFX1   Pax-5   GR-beta   GATA-1   HSF2   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHPF promoter sequence
   Search SABiosciences Chromatin IP Primers for CHPF

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


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M220367:  view genomic region     (about GC identifiers)

Start:
220,403,669 bp from pter      End:
220,408,509 bp from pter
Size:
4,841 bases      Orientation:
minus 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: CHSS2_HUMAN, Q8IZ52 (See protein sequence)
Recommended Name: Chondroitin sulfate synthase 2  
Size: 775 amino acids; 85467 Da
Cofactor: Mn(2+). Highest activities are measured with manganese. Can also utilize cobalt
Subunit: Binds CHSY1
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable)
Sequence caution: Sequence=BAB15449.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6UXD6 Q7L4G1 Q9H0F8 Q9H618

Explore the universe of human proteins at neXtProt for CHPF: NX_Q8IZ52

Explore proteomics data for CHPF at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZ52

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

    CHPF Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001182660.1  NP_078812.2  

    ENSEMBL proteins: 
     ENSP00000243776   ENSP00000362998   ENSP00000445571  
    Reactome Protein details: Q8IZ52
    Human Recombinant Protein Products for CHPF: 
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    Cloud-Clone Corp. Proteins for CHPF 

    Gene Ontology (GO): 3 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 IEA--
    GO:0032580Golgi cisterna membrane IEA--

    CHPF 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: 
    B3GT: Beta 3-glycosyltransferases
    B4GT: Beta 4-glycosyltransferases

    1 InterPro protein domain:
     IPR008428 Chond_GalNAc

    Graphical View of Domain Structure for InterPro Entry Q8IZ52

    ProtoNet protein and cluster: Q8IZ52

    UniProtKB/Swiss-Prot: CHSS2_HUMAN, Q8IZ52
    Similarity: Belongs to the chondroitin N-acetylgalactosaminyltransferase family


    CHPF 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: CHSS2_HUMAN, Q8IZ52
    Function: Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers
    glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end
    of the elongating chondroitin polymer
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine +
    beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP +
    N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan
    Catalytic activity: UDP-alpha-D-glucuronate +
    N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP +
    beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan

         Enzyme Numbers (IUBMB): EC 2.4.1.2261 EC 2.4.1.1751

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0046872metal ion binding IEA--
    GO:0047238glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IEA--
    GO:0050510N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IEA--
         
    CHPF for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Chpf):
     limbs/digits/tail  normal  skeleton 

    CHPF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CHPF: Chpftm1.2Hwat Chpftm1Lex

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

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

    miRNA
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    hsa-miR-217 hsa-miR-4291 hsa-miR-485-5p hsa-miR-3194-5p hsa-miR-922 hsa-miR-503 hsa-miR-214 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidCHPF 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 CHPF About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1chondroitin sulfate biosynthesis
    chondroitin sulfate biosynthesis0.74
    dermatan sulfate biosynthesis0.64
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.74
    Chondroitin sulfate biosynthesis0.50
    chondroitin sulfate biosynthesis (late stages)0.65
    chondroitin and dermatan biosynthesis0.38
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    4A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for CHPF
        chondroitin and dermatan biosynthesis
    chondroitin sulfate biosynthesis (late stages)
    chondroitin sulfate biosynthesis
    dermatan sulfate biosynthesis

    5/18        Reactome Pathways for CHPF (see all 18)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for CHPF):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    Metabolic pathways


    CHPF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHPF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/28 Interacting proteins for CHPF (Q8IZ521, 2, 3 ENSP000002437764) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKILP127572, 3MINT-61685 I2D: score=3 
    SMAD9O151982, 3MINT-62112 I2D: score=3 
    EXOSC10Q017801, 3, ENSP000003661354EBI-372500,EBI-358236 I2D: score=3 STRING: ENSP00000366135
    PIN1Q135262, 3, ENSP000002479704MINT-64894 I2D: score=4 STRING: ENSP00000247970
    EXOSC6Q5RKV63, ENSP000003985974I2D: score=2 STRING: ENSP00000398597
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030206chondroitin sulfate biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    CHPF 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

    CHPF for compounds           About GeneDecksing

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

    Browse Tocris compounds for CHPF (CHSS2)

    6 HMDB Compounds for CHPF    About this table
    CompoundSynonyms CAS #PubMed Ids
    CobaltCo (see all 6)7440-48-4--
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucuronic acidUDP glucuronate (see all 41)2616-64-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--

    2 Novoseek inferred chemical compound relationships for CHPF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondroitin 88.2 19 18316376 (3), 17253960 (2), 12716890 (2), 15485872 (1)
    chondroitin sulfate 76.9 4 18316376 (2)

    Search CenterWatch for drugs/clinical trials and news about CHPF / CHSS2

    (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 CHPF gene (2 alternative transcripts): 
    NM_001195731.1  NM_024536.5  

    Unigene Cluster for CHPF:

    Chondroitin polymerizing factor
    Hs.516711  [show with all ESTs]
    Unigene Representative Sequence: AB095813
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243776(uc010zlh.2 uc002vmc.4) ENST00000373891 ENST00000535926

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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate CHPF (see all 9):
    hsa-miR-217 hsa-miR-4291 hsa-miR-485-5p hsa-miR-3194-5p hsa-miR-922 hsa-miR-503 hsa-miR-214 hsa-miR-761
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    Additional mRNA sequence: 

    AB086063.1 AB095813.1 AK026331.1 AK302124.1 AL136814.1 AY358403.1 BC008878.2 BC021223.2 
    BC023531.2 

    13 DOTS entries:

    DT.80100285  DT.95237072  DT.95254271  DT.92443445  DT.100816215  DT.92443448  DT.95082282  DT.120936758 
    DT.75129966  DT.75143762  DT.87016912  DT.95095605  DT.95254184 

    24/368 AceView cDNA sequences (see all 368):

    BU145447 AI766929 CA391816 CB215231 Z39907 BF436041 CA424151 AI570655 
    BU173565 BU173535 BI824221 CA441371 BM665216 BU162360 T30021 BX114215 
    AI183874 F10717 BM791332 AA429049 CA412127 BF222799 BI042819 BU172149 

    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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.516711

    UniProtKB/Swiss-Prot: CHSS2_HUMAN, Q8IZ52
    Tissue specificity: Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney,
    liver, stomach, small intestine and placenta

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHPF gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chpf1 , 5 chondroitin polymerizing factor1, 5 87.04(n)1
    94.44(a)1
      1 (39.14 cM)5
    742411  NM_001001566.31  NP_001001566.11 
     754745695 
    chicken
    (Gallus gallus)
    Aves CHPF1 chondroitin polymerizing factor 69.79(n)
    62.34(a)
      769112  XM_001232316.2  XP_001232317.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHPF6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    1(94644949-94667323)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.67612 Xenopus laevis transcribed sequence with weak similarity more 73.78(n)    BJ627398.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.136072 Transcribed sequence with weak similarity to protein more 77.62(n)    BI868106.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433136
    --
    27(a)
    1 → many
    X(12990125-13006475)
    worm
    (Caenorhabditis elegans)
    Secernentea mig-221 Protein MIG-22 40.59(n)
    31.47(a)
      176231  NM_066533.3  NP_498934.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHPF gene
    CSGALNACT12  CHSY32  B4GALNT32  CSGALNACT22  CHSY12  CHPF22  B4GALNT42  
    1 SIMAP similar gene for CHPF using alignment to 4 protein entries:     CHSS2_HUMAN (see all proteins):
    CHPF2

    CHPF 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

    10/162 SNPs in CHPF are shown (see all 162)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0473944
    ----see VAR_0473942 Q R mis40--------
    rs1813993511,2
    --212256202(+) AGGGAA/CAGCCA 2 -- ds50010--------
    rs1843924821,2
    --212256219(+) CAGCCC/TCAATG 2 -- ds50010--------
    rs1884426061,2
    --212256364(+) CTGCAC/TCAGCC 2 -- ds50010--------
    rs1440234651,2
    --212256405(+) GGCAGA/GAGACC 2 -- ds50010--------
    rs1812932861,2
    --212256495(+) GCTGAC/TGAGAT 2 -- ds50010--------
    rs1860312101,2
    --212256563(+) GGGGCC/TGGGGT 2 -- ds50010--------
    rs1393343891,2
    --212256604(+) GGTGAA/GAGGAA 2 -- ds50010--------
    rs9071441,2
    C,F,A,H--212256681(+) CTACCC/TTTTCA 2 -- ds500126Minor allele frequency- T:0.07NS EA NA WA CSA 2039
    rs1133164661,2
    C--212256704(+) CACAAC/G/TTCCAC 4 -- ut311CSA 1

    HapMap Linkage Disequilibrium report for CHPF (220403669 - 220408509 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CHPF:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508887CNV Insertion20534489
    dgv4438n71CNV Loss21882294
    nsv875876CNV Loss21882294
    nsv520958CNV Loss19592680
    nsv834545CNV Loss17160897
    nsv875875CNV Loss21882294
    nsv482056CNV Gain20164927

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    (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: 610405    OMIM disorders: --

    2 diseases for CHPF:    About MalaCards
    morquio syndrome b    colorectal cancer


    CHPF for disorders           About GeneDecksing


    Export disorders for CHPF 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 CHPF gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with CHPF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. (PubMed id 12716890)1, 2, 3, 9 Kitagawa H.... Sugahara K. (2003)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    3. Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities. (PubMed id 12761225)1, 2, 9 Yada T.... Kimata K. (2003)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential. (PubMed id 22082830)1 Kuroda Y....Mitsui T. (2012)
    8. FOXM1 induces a global methylation signature that mimi cs the cancer epigenome in head and neck squamous cell carcinoma. (PubMed id 22461910)1 Teh M.T....Hutchison I.L. (2012)
    9. Chondroitin synthases I, II, III and chondroitin sulf ate glucuronyltransferase expression in colorectal cancer. (PubMed id 21468578)1 Kalathas D....Vynios D.H. (2011)
    10. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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
    Entrez Gene: 79586 HGNC: 24291 AceView: CHPF Ensembl:ENSG00000123989 euGenes: HUgn79586
    ECgene: CHPF Kegg: 79586 H-InvDB: CHPF

    (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 CHPF Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

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

    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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