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CHERP Gene

protein-coding   GIFtS: 52
GCID: GC19M016629

Calcium Homeostasis Endoplasmic Reticulum Protein

Alzheimer's & Parkinson's Diseases Congress
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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
Calcium Homeostasis Endoplasmic Reticulum Protein1 2     ERPROT213-212
SCAF62 3     SRA12
ERPROT 213-212 3     Protein With Polyglutamine Repeat2
SR-Related CTD-Associated Factor 62 3     SR-Related CTD Associated Factor 62
DAN162     DAN263

External Ids:    HGNC: 169301   Entrez Gene: 105232   Ensembl: ENSG000000858727   UniProtKB: Q8IWX83   

Export aliases for CHERP gene to outside databases

Previous GC identifers: GC19M017122 GC19M017020 GC19M016473 GC19M016489 GC19M016197


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CHERP Gene:
CHERP (calcium homeostasis endoplasmic reticulum protein) is a protein-coding gene. Diseases associated with CHERP include spinocerebellar ataxia type 8, and spinocerebellar ataxia type 3. GO annotations related to this gene include ion channel binding and RNA binding.

UniProtKB/Swiss-Prot: CHERP_HUMAN, Q8IWX8
Function: Involved in calcium homeostasis, growth and proliferation




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the CHERP gene promoter:
         NF-1   LHX3b/Lhx3b   Pax-6   Pax-2   MIF-1   Pax-2a   XBP-1   GATA-2   RORalpha1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHERP promoter sequence
   Search Chromatin IP Primers for CHERP

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


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

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M016629:  view genomic region     (about GC identifiers)

Start:
16,628,700 bp from pter      End:
16,653,341 bp from pter
Size:
24,642 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CHERP_HUMAN, Q8IWX8 (See protein sequence)
Recommended Name: Calcium homeostasis endoplasmic reticulum protein  
Size: 916 amino acids; 103702 Da
Sequence caution: Sequence=AAB53327.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH21294.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA69591.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA69591.1; Type=Frameshift;
Positions=450;
Secondary accessions: O00302 Q4G0Y5 Q8WU30 Q99492

Explore the universe of human proteins at neXtProt for CHERP: NX_Q8IWX8

Explore proteomics data for CHERP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys18, Lys177
  • Modification sites at PhosphoSitePlus

  • See CHERP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006378.3  
    ENSEMBL proteins: 
     ENSP00000439856   ENSP00000198939  

    CHERP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CHERP
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CHERP
    GenScript Custom Purified and Recombinant Proteins Services for CHERP
    Novus Biologicals CHERP Proteins
    Novus Biologicals CHERP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHERP

    CHERP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for CHERP
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    ThermoFisher Antibodies for CHERP
    LSBio Antibodies in human, mouse, rat for CHERP

    CHERP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CHERP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CHERP
    Cloud-Clone Corp. CLIAs for CHERP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPATCH: G patch domain containing

    5 InterPro protein domains:
     IPR006569 CID_dom
     IPR000061 Surp
     IPR006903 RNA_pol_II-bd
     IPR000467 G_patch_dom
     IPR008942 ENTH_VHS

    Graphical View of Domain Structure for InterPro Entry Q8IWX8

    ProtoNet protein and cluster: Q8IWX8

    3 Blocks protein domains:
    IPB000061 SWAP/Surp
    IPB000467 D111/G-patch domain
    IPB006569 Regulation of nuclear pre-mRNA protein


    UniProtKB/Swiss-Prot: CHERP_HUMAN, Q8IWX8
    Similarity: Contains 1 CID domain
    Similarity: Contains 1 G-patch domain
    Similarity: Contains 1 SURP motif repeat


    CHERP 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHERP_HUMAN, Q8IWX8
    Function: Involved in calcium homeostasis, growth and proliferation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI--
    GO:0044325ion channel binding IPI--
    GO:0044822poly(A) RNA binding IDA--
         
    CHERP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHERP:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHERP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHERP

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHERP:
    hsa-mir-16-5p (MIRT051279), hsa-mir-615-3p (MIRT040284), hsa-mir-26b-5p (MIRT029474), hsa-mir-34a-5p (MIRT025448)

    Block miRNA regulation of human, mouse, rat CHERP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHERP (see all 9):
    hsa-miR-3671 hsa-miR-607 hsa-miR-27a hsa-miR-513a-5p hsa-miR-548v hsa-miR-16-1* hsa-miR-551b* hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCHERP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHERP
    Predesigned siRNA for gene silencing in human, mouse, rat CHERP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHERP

    Clone
    Products:
         
    OriGene clones in human, mouse for CHERP (see all 7)
    OriGene ORF clones in mouse, rat for CHERP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHERP (NM_006387)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHERP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHERP

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CHERP
    Browse ESI BIO Cell Lines and PureStem Progenitors for CHERP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHERP


    (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
    CHERP_HUMAN, Q8IWX8: Cytoplasm. Cytoplasm, perinuclear region. Endoplasmic reticulum. Note=Distributed throughout
    the cytoplasm and also localizes to the perinuclear region of both human erythroleukemia (HEL) cells and Jurkat
    cells. Colocalizes with ITPR1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus3
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10794731
    GO:0033017sarcoplasmic reticulum membrane ISS--
    GO:0048471perinuclear region of cytoplasm IDA12656674

    CHERP for ontologies           About GeneDecksing


    (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 CHERP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CHERP
        Estrogen Pathway


    1 Kegg Pathway  (Kegg details for CHERP):
        Spliceosome


    CHERP for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for CHERP

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

    Selected Interacting proteins for CHERP (Q8IWX81, 2, 3 ENSP000001989394) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FRA10AC1Q70Z531, 2, ENSP000003604884EBI-2555370,EBI-710176 MINT-8331459 MINT-8334670 STRING: ENSP00000360488
    SNRNP27Q8WVK21, 2, ENSP000002442274EBI-2555370,EBI-2512550 MINT-8331470 MINT-8334725 STRING: ENSP00000244227
    LUC7LQ9NQ291, 2, ENSP000002938724EBI-2555370,EBI-473747 MINT-8334769 MINT-8331481 STRING: ENSP00000293872
    DHX8Q145621, 2, ENSP000002624154EBI-2555370,EBI-2511477 MINT-8334648 MINT-8331448 STRING: ENSP00000262415
    U2AF2P263681, 2, ENSP000003078634EBI-2555370,EBI-742339 MINT-8334142 MINT-8331437 STRING: ENSP00000307863
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006396RNA processing IEA--
    GO:0006874cellular calcium ion homeostasis IDA10794731
    GO:0007399nervous system development TAS8896557
    GO:0008285negative regulation of cell proliferation IDA10794731
    GO:0051209release of sequestered calcium ion into cytosol IMP12656674

    CHERP for ontologies           About GeneDecksing



    (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 CHERP

    1 HMDB Compound for CHERP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    3 Novoseek inferred chemical compound relationships for CHERP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 89.4 189 17028181 (5), 12676955 (5), 11751688 (4), 15470501 (4) (see all 95)
    testosterone 12.6 1 11751688 (1)
    calcium 0 7 12656674 (2), 10794731 (1)



    CHERP for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHERP gene: 
    NM_006387.5  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546361(uc010xpg.1 uc002nei.1) ENST00000198939 ENST00000597261
    ENST00000544299 ENST00000600432 ENST00000546538(uc002nej.3) ENST00000551747


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CHERP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHERP (see all 9):
    hsa-miR-3671 hsa-miR-607 hsa-miR-27a hsa-miR-513a-5p hsa-miR-548v hsa-miR-16-1* hsa-miR-551b* hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCHERP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CHERP
    Predesigned siRNA for gene silencing in human, mouse, rat CHERP
    Clone
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    OriGene clones in human, mouse for CHERP (see all 7)
    OriGene ORF clones in mouse, rat for CHERP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHERP (NM_006387)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHERP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHERP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CHERP
    OriGene qSTAR qPCR primer pairs in human, mouse for CHERP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHERP
      QuantiTect SYBR Green Assays in human, mouse, rat CHERP
      QuantiFast Probe-based Assays in human, mouse, rat CHERP

    Selected AceView cDNA sequences (see all 361):

    BM692273 CR602259 CA406146 BM545482 AA887727 AI685290 BC021294 BE741277 
    BU839481 CF593296 BX106296 AA876246 AI858550 BG774166 CB157547 BM673537 
    CD722667 BU197386 BM923150 BI763944 BG104518 BX374529 CB989723 Z39812 

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

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

    CHERP Protein Expression

    UniProtKB/Swiss-Prot: CHERP_HUMAN, Q8IWX8
    Tissue specificity: Expressed in brain, placenta, lung, liver, kidney, pancreas, cardiac and skeletal muscle, and
    in cultured HEL and Dami cells

        Custom PCR Arrays for CHERP
    Primer
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    OriGene qPCR primer pairs and template standards for CHERP
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    QuantiTect SYBR Green Assays in human, mouse, rat CHERP
    QuantiFast Probe-based Assays in human, mouse, rat CHERP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHERP

    (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 CHERP gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cherp1 , 5 calcium homeostasis endoplasmic reticulum protein1, 5 85.12(n)1
    93.98(a)1
      8 (35.08 cM)5
    279671  NM_138585.31  NP_613051.31 
     724604895 
    chicken
    (Gallus gallus)
    Aves CHERP1 calcium homeostasis endoplasmic reticulum protein 74.75(n)
    87.26(a)
      420144  NM_001006341.2  NP_001006341.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHERP6
    calcium homeostasis endoplasmic reticulum protein
    87(a)
    1 ↔ 1
    AAWZ02036422(6857-21185)
    African clawed frog
    (Xenopus laevis)
    Amphibia cherp-prov2 calcium homeostasis endoplasmic reticulum protein 76.24(n)    BC046715.1 
    zebrafish
    (Danio rerio)
    Actinopterygii iktdsubc_2h122 iktdsubc_2h12 77.12(n)   337851  AF536545.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta scaf66
    --
    36(a)
    1 ↔ 1
    3L(17029959-17035674)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-656
    Protein TAG-65 (tag-65) mRNA, complete cds
    27(a)
    1 ↔ 1
    V(13675988-13678599) WBGene00006442


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (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 CHERP (see all 498)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1433077671,2
    --16632665(+) CATAGC/TTGCTC 1 -- int10--------
    rs1829426641,2
    --16632684(+) ATGACA/GGTCAC 1 -- int10--------
    rs1876153471,2
    --16632856(+) CCTGGA/GGCCCC 1 -- int10--------
    rs1145574391,2
    F--16632876(+) ATCCTT/CCTTCT 1 -- int11Minor allele frequency- C:0.03WA 118
    rs124616081,2
    C,F,H--16632895(+) TCTGTC/TCTCCT 1 -- int115Minor allele frequency- T:0.05NS EA NA WA 1748
    rs557462581,2
    C,F--16632968(+) GGCTCC/TGTGAA 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1928905631,2
    --16633131(+) GTGGCA/GTGATC 1 -- int10--------
    rs1849522361,2
    --16633136(+) GTGATC/TTCGGC 1 -- int10--------
    rs1397264361,2
    --16633161(+) GCCTCC/TCGGGT 1 -- int10--------
    rs72510141,2
    C,A--16633261(+) GAGACG/AGGGTT 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for CHERP (16628700 - 16653341 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHERP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911167CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHERP
    DNA2.0 Custom Variant and Variant Library Synthesis for CHERP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Selected diseases for CHERP (see all 24):    About MalaCards
    spinocerebellar ataxia type 8    spinocerebellar ataxia type 3    spinocerebellar ataxia type 7    spinocerebellar degeneration
    oculopharyngeal muscular dystrophy    hereditary ataxia    hepatic encephalopathy    machado-joseph disease
    spinal-bulbar muscular atrophy    huntington's disease    spinocerebellar ataxia    muscular atrophy
    ataxia    fanconi's anemia    parkinson's disease    muscular dystrophy
    hepatitis    retinitis    alzheimer's disease    multiple myeloma


    CHERP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CHERP gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spinocerebellar ataxias 84.9 4 15198995 (1), 16791428 (1), 11511401 (1), 16831871 (1)
    spinocerebellar ataxia type 1 83.1 1 10624951 (1)
    huntington disease 81.6 7 15198995 (1), 19240033 (1), 16311254 (1), 17939755 (1) (see all 6)
    neurodegenerative diseases 81.1 9 16461359 (1), 11606565 (1), 11487572 (1), 17939755 (1) (see all 8)
    machado-joseph disease 80.3 1 9292723 (1)
    spinocerebellar ataxia type 7 75.2 1 11487572 (1)
    neurodegeneration 70.1 2 17447526 (1), 14622574 (1)
    spinocerebellar degenerations 69.5 1 11511401 (1)
    promyelocytic leukemia 55.9 1 16461359 (1)
    parkinson disease 39.6 1 11511401 (1)


    Export disorders for CHERP 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 CHERP gene, integrated from 10 sources (see all 134):
    (articles sorted by number of sources associating them with CHERP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human Ca2+ homoeostasis endoplasmic reticulum protein (CHERP): regulated expression of antisense cDNA depletes CHERP, inhibits intracellular Ca2+ mobilization and decreases cell proliferation. (PubMed id 10794731)1, 2, 3, 9 LaPlante J.M.... Feinstein M.B. (Biochem. J. 2000)
    2. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. (PubMed id 8896557)1, 2, 3 Imbert G.... Brice A. (Nat. Genet. 1996)
    3. Antisense-mediated loss of calcium homoeostasis endoplasmic reticulum protein (CHERP; ERPROT213-21) impairs Ca2+ mobilization, nuclear factor of activated T-cells (NFAT) activation and cell proliferation in Jurkat T-lymphocytes. (PubMed id 12656674)1, 2, 9 O'Rourke F.A.... Feinstein M.B. (Biochem. J. 2003)
    4. Nuclear ALG-2 protein interacts with Ca2+ homeostasis endoplasmic reticulum protein (CHERP) Ca2+-dependently and participates in regulation of alternative splicing of inositol trisphosphate receptor type 1 (IP3R1) pre-mRNA. (PubMed id 24078636)1 Sasaki-Osugi K....Maki M. (J. Biol. Chem. 2013)
    5. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    6. Re-evaluation of the role of calcium homeostasis endoplasmic reticulum protein (CHERP) in cellular calcium signaling. (PubMed id 23148228)1 Lin-Moshier Y....Marchant J.S. (J. Biol. Chem. 2013)
    7. Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress. (PubMed id 22751105)1 Chu L....Tomasson M.H. (J. Clin. Invest. 2012)
    8. Dynamic protein-protein interaction wiring of the human spliceosome. (PubMed id 22365833)1 Hegele A....Stelzl U. (Mol. Cell 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    OMIM
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      (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: 10523 HGNC: 16930 AceView: CHERP Ensembl:ENSG00000085872 euGenes: HUgn10523
    ECgene: CHERP Kegg: 10523 H-InvDB: CHERP

    (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 CHERP Pharmacogenomics, SNPs, Pathways

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

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



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