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CXorf27 Gene

protein-coding   GIFtS: 43
GCID: GC0XP037850

Chromosome X Open Reading Frame 27

  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)
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Aliases
Chromosome X Open Reading Frame 271 2
Huntingtin Yeast Partner M2 3
HYPM2 3
HIP172
Huntingtin-Interacting Protein M2

External Ids:    HGNC: 184171   Entrez Gene: 257632   Ensembl: ENSG000001875167   UniProtKB: O754093   

Export aliases for CXorf27 gene to outside databases

Previous GC identifers: GC0XP037606 GC0XP037735 GC0XP035595


(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 CXorf27 Gene:
This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in
individuals with Huntington's disease (PMID: 9700202). (provided by RefSeq, Aug 2011)

GeneCards Summary for CXorf27 Gene:
CXorf27 (chromosome X open reading frame 27) is a protein-coding gene. Diseases associated with CXorf27 include huntington's disease, and amyotrophic lateral sclerosis. GO annotations related to this gene include protein heterodimerization activity.




(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:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the CXorf27 gene promoter:
         NF-YA   Pax-6   NF-YC   CBF-C   NF-YB   CBF-B   CBF-A   CP1C   CP1A   NF-Y   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CXorf27

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CXorf27


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

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp21.1

CXorf27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXorf27 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP037850:  view genomic region     (about GC identifiers)

Start:
37,850,070 bp from pter      End:
37,850,570 bp from pter
Size:
501 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, 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: HYPM_HUMAN, O75409 (See protein sequence)
Recommended Name: Huntingtin-interacting protein M  
Size: 117 amino acids; 13442 Da
Subunit: May interact with the N-terminus of HD
Sequence caution: Sequence=AAC26851.1; Type=Erroneous initiation;
Secondary accessions: A1A4D3

Explore the universe of human proteins at neXtProt for CXorf27: NX_O75409

Explore proteomics data for CXorf27 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CXorf27 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036406.1  
    ENSEMBL proteins: 
     ENSP00000339511  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009072 Histone-fold

    Graphical View of Domain Structure for InterPro Entry O75409

    ProtoNet protein and cluster: O75409


    CXorf27 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046982protein heterodimerization activity IEA--
         
    CXorf27 for ontologies           About GeneDecksing


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    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CXorf27
    Interactions:

        Search GeneGlobe Interaction Network for CXorf27

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CXorf27 (O754093 ENSP000003395114) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428583, ENSP000003471844I2D: score=2 STRING: ENSP00000347184
    About this table

    (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 CXorf27 (HYPM)



    (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 CXorf27 gene: 
    NM_012274.1  

    Unigene Cluster for CXorf27:

    Chromosome X open reading frame 27
    Hs.122959  [show with all ESTs]
    Unigene Representative Sequence: NM_012274
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000341016(uc004ddt.4)
    miRNA
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    Additional mRNA sequence: 

    AF049615.1 BC104428.1 BC104429.1 BC113024.1 BC113025.1 

    1 DOTS entry:

    DT.75114365 

    9 AceView cDNA sequences:

    BX111086 AF049615 AW291697 AA813313 AA429694 AI656266 AI806113 AA815276 
    AI918856 

    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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    CXorf27 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTAAAAAAA
    CXorf27 Expression
    About this image

    CXorf27 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CXorf27 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122959
        Custom PCR Arrays for CXorf27
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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for CXorf27 gene from Selected species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700054O13Rik5 RIKEN cDNA 1700054O13 gene   --   X (4.61 cM) 9846928 


    ENSEMBL Gene Tree for CXorf27 (if available)
    TreeFam Gene Tree for CXorf27 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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 CXorf27 (see all 54)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1815116771,2
    --37764739(+) GGAAAC/GACATA 1 -- us2k10--------
    rs1850118681,2
    C--37764799(+) GAGAAA/GTTTTC 1 -- us2k10--------
    rs59175191,2
    C,F--37765159(+) tgaaaG/Aaagtc 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs734803381,2
    C--37765184(+) AATTTA/GACAGG 1 -- us2k12Minor allele frequency- G:0.33WA CSA 3
    rs1894753981,2
    --37765406(+) TTTGAA/GACTCC 1 -- us2k10--------
    rs1389624801,2
    --37765407(+) TTGAGA/TCTCCT 1 -- us2k10--------
    rs1810691411,2
    --37765573(+) TACACA/TTCTGG 1 -- us2k10--------
    rs1406803101,2
    C--37765655(+) ATCTTA/GTTATT 1 -- us2k10--------
    rs1860003651,2
    C--37765679(+) AGACCA/G/TAGTCC 1 -- us2k10--------
    rs1895419891,2
    C--37765803(+) GCGCCC/TGCCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CXorf27 (37850070 - 37850570 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CXorf27:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518029CNV Gain19592680
    esv2752323CNV Gain17911159
    nsv519012CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): CXorf27

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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.)
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    5 diseases for CXorf27:    
    About MalaCards
    huntington's disease    amyotrophic lateral sclerosis    lateral sclerosis    prostate cancer
    prostatitis


    CXorf27 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CXorf27

    Export disorders for CXorf27 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 CXorf27 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CXorf27)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)1, 2, 3 Faber P.W....MacDonald M.E. (Hum. Mol. Genet. 1998)
    2. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
    3. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)4 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    5. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PubMed id 17362836)4 Schymick J.C....Traynor B.J. (Lancet Neurol 2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 25763 HGNC: 18417 AceView: CXorf27 Ensembl:ENSG00000187516 euGenes: HUgn25763
    ECgene: CXorf27 H-InvDB: CXorf27

    (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 CXorf27 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 CXorf27 gene:
    Search GeneIP for patents involving CXorf27

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



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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXorf27
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CXorf27
     Browse SwitchGear Promoter luciferase reporter plasmids for CXorf27
     Search ThermoFisher Antibodies for CXorf27
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CXorf27
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CXorf27
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CXorf27
     Search LSBio for Antibodies for CXorf27
    Customized transgenic rodents for:
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