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

CXorf48 Gene

protein-coding   GIFtS: 40
GCID: GC0XM134290

Chromosome X Open Reading Frame 48

  See related disease
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
Chromosome X Open Reading Frame 481 2     BJHCC20A2
Cancer/Testis Antigen 551 2 3     BRCA2-Interacting Protein2
Tumor Antigen BJ-HCC-202 3     Uncharacterized Protein CXorf482
CT552 3     

External Ids:    HGNC: 260471   Entrez Gene: 549672   Ensembl: ENSG000001695517   UniProtKB: Q8WUE53   

Export aliases for CXorf48 gene to outside databases

Previous GC identifers: GC0XM134016 GC0XM134118 GC0XP123693


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

GeneCards Summary for CXorf48 Gene: 
CXorf48 (chromosome X open reading frame 48) is a protein-coding gene. Diseases associated with CXorf48 include leukemia.


(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_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CXorf48 gene promoter:
         AML1a   SREBP-1c   Brachyury   HSF1 (long)   HNF-3beta   SREBP-1b   SREBP-1a   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCXorf48 promoter sequence
   Search SABiosciences Chromatin IP Primers for CXorf48

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CXorf48


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

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26.3

CXorf48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXorf48 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM134290:  view genomic region     (about GC identifiers)

Start:
134,290,461 bp from pter      End:
134,305,751 bp from pter
Size:
15,291 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: CX048_HUMAN, Q8WUE5 (See protein sequence)
Recommended Name: Uncharacterized protein CXorf48  
Size: 264 amino acids; 29052 Da
Secondary accessions: Q9NWY8
Alternative splicing: 2 isoforms:  Q8WUE5-1   Q8WUE5-2   

Explore the universe of human proteins at neXtProt for CXorf48: NX_Q8WUE5

Explore proteomics data for CXorf48 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WUE5

  • CXorf48 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CXorf48 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001026875.1  NP_060333.1  

    ENSEMBL proteins: 
     ENSP00000276241   ENSP00000343893  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR025223 S1-like_RNA-bd_dom
     IPR012340 NA-bd_OB-fold

    Graphical View of Domain Structure for InterPro Entry Q8WUE5

    ProtoNet protein and cluster: Q8WUE5


    CXorf48 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CXorf48 
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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CXorf48

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

    1 Interacting protein for CXorf48 (Q8WUE52, 3 ENSP000002762414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202086 I2D: score=1 STRING: ENSP00000250416
    About this table

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

    Browse Tocris compounds for CXorf48 (CX048)

    Search CenterWatch for drugs/clinical trials and news about CXorf48 / CX048

    (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 CXorf48 gene (2 alternative transcripts): 
    NM_001031705.2  NM_017863.2  

    Unigene Cluster for CXorf48:

    Chromosome X open reading frame 48
    Hs.272804  [show with all ESTs]
    Unigene Representative Sequence: AY352211
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276241(uc004eyk.1) ENST00000344129(uc004eyl.1)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF520814.2 AK000534.1 AY352211.1 BC020662.1 

    5 DOTS entries:

    DT.75181654  DT.100018757  DT.121322572  DT.121304302  DT.121322571 

    20 AceView cDNA sequences:

    CA417318 CA444513 AY352211 AW081773 NM_017863 BU634156 BU160646 BX279592 
    BU616828 AK000534 BU183159 AF520814 BU177224 BM452194 BC020662 BG687593 
    BQ772819 BU630194 BP429806 BG777187 

    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

    CXorf48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CXorf48 Expression
    About this image


    See CXorf48 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CXorf48

    SOURCE GeneReport for Unigene cluster: Hs.272804
        SABiosciences Custom PCR Arrays for CXorf48
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXorf48

    (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 human and mouse.

    Orthologs for CXorf48 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930502E18Rik1 , 5 RIKEN cDNA 4930502E18 gene1, 5 63.52(n)1
    43.78(a)1
      X (29.99 cM)5
    750131  NM_029142.11  NP_083418.11 
     537248265 


    ENSEMBL Gene Tree for CXorf48 (if available)
    TreeFam Gene Tree for CXorf48 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CXorf48 gene
    1 SIMAP similar gene for CXorf48 using alignment to 1 protein entry:     CX048_HUMAN:
    MOV10L1

    CXorf48 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for CXorf48
    PGOHUM00000241556 PGOHUM00000241559 PGOHUM00000242027


    (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

    10/198 SNPs in CXorf48 are shown (see all 198)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1485995871,2
    C--134292038(+) CATTAC/TACCCA 2 -- int10--------
    rs1116297381,2
    C,F--134292056(+) CCTGGG/TCACGT 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs1830996921,2
    --134292060(+) GTCACA/GTAAAT 2 -- int10--------
    rs2013595291,2
    C--134292081(+) GGAAGA/GGTTAG 2 -- int10--------
    rs2004649441,2
    C--134292097(+) ACTGCG/TGACGG 2 -- int10--------
    rs1420302191,2
    C,F--134292131(+) CTTCCG/ATATGA 4 /T /M mis11Minor allele frequency- A:0.00NA 4552
    rs1459984431,2
    C,F--134292160(+) ACAGAA/TGTTGC 4 T syn11Minor allele frequency- T:0.00NA 4552
    rs1995277031,2
    --134292269(+) GTCATA/GATCTC 2 -- int10--------
    rs1461926421,2
    C--134292287(+) GGTCAC/GTTTTA 2 -- int10--------
    rs1393862531,2
    C--134292288(+) GTCACG/TTTTAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for CXorf48 (134290461 - 134305751 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CXorf48:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2476e1CNV Complex17122850
    nsv469825CNV Complex16826518
    nsv7458OTHER Inversion18451855

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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
    2 diseases for CXorf48:    About MalaCards
    leukemia    


    CXorf48 for disorders           About GeneDecksing


    Export disorders for CXorf48 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 CXorf48 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CXorf48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Novel BRCA2-interacting protein BJ-HCC-20A inhibits the induction of apoptosis in response to DNA damage. (PubMed id 18307534)1 Tomiyoshi G....Miki Y. (2008)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 54967 HGNC: 26047 AceView: FLJ20527 Ensembl:ENSG00000169551 euGenes: HUgn54967
    ECgene: CXorf48 H-InvDB: CXorf48

    (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 CXorf48 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 CXorf48 gene:
    Search GeneIP for patents involving CXorf48

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for CXorf48
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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