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

CXXC5 Gene

protein-coding   GIFtS: 47
GCID: GC05P139008

CXXC finger protein 5

 Explore 6 diseases affiliated with
CXXC5 via our new
 Human Malady Compendium 
Biological research products
for CXXC5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CXXC Finger Protein 51 2     CF52 3
RINF1 2 3     HSPC1951
WID1 2     CXXC Finger 5 Protein2
Putative MAPK-Activating Protein PM082 3     CXXC-Type Zinc Finger Protein 52
Putative NF-Kappa-B-Activating Protein 1022 3     WT1-Induced Inhibitor Of Dishevelled2
Retinoid-Inducible Nuclear Factor2 3     

External Ids:    HGNC: 269431   Entrez Gene: 515232   Ensembl: ENSG000001716047   OMIM: 6127525   UniProtKB: Q7LFL83   

Export aliases for CXXC5 gene to outside databases

Previous GC identifers: GC05P139057 GC05P134203


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

UniProtKB/Swiss-Prot: CXXC5_HUMAN, Q7LFL8
Function: May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of
BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA
damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis

Gene Wiki entry for CXXC5


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CXXC5 gene promoter:
         NCX/Ncx   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GATA-1   CREB   PPAR-alpha   HEN1   AREB6   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCXXC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CXXC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CXXC5


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

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.3

CXXC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXXC5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P139008:  view genomic region     (about GC identifiers)

Start:
139,026,884 bp from pter      End:
139,063,467 bp from pter
Size:
36,584 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CXXC5_HUMAN, Q7LFL8 (See protein sequence)
Recommended Name: CXXC-type zinc finger protein 5  
Size: 322 amino acids; 32977 Da
Subunit: Interacts with DVL1 (By similarity)
Subcellular location: Nucleus. Cytoplasm (By similarity). Note=Colocalizes with DVL1 in large bodies localized just
outside the nuclear membrane (By similarity)
Sequence caution: Sequence=AAF36115.1; Type=Frameshift; Positions=32, 102, 119, 250, 265; Sequence=AAH02490.3;
Type=Erroneous initiation; Sequence=AAH06428.1; Type=Erroneous initiation; Sequence=AAH17439.2; Type=Erroneous
initiation; Sequence=AAH24040.2; Type=Erroneous initiation; Sequence=AAH41013.2; Type=Erroneous initiation;
Secondary accessions: B3KND0 C8CBA8 Q8TB79 Q9NV51 Q9P0S8
Alternative splicing: 2 isoforms:  Q7LFL8-1   Q7LFL8-2   

Explore the universe of human proteins at neXtProt for CXXC5: NX_Q7LFL8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7LFL8

  • CXXC5 Protein expression data from MOPED and PaxDb:    About this image 
    CXXC5 Protein Expression
    REFSEQ proteins: NP_057547.5  
    ENSEMBL proteins: 
     ENSP00000427127   ENSP00000422883   ENSP00000302543   ENSP00000427253   ENSP00000425203  
     ENSP00000426124   ENSP00000430522   ENSP00000427379   ENSP00000423365   ENSP00000427440  
     ENSP00000424219   ENSP00000421057   ENSP00000430949   ENSP00000421866  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CXXC5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    CXXC5 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CXXC5 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002857 Znf_CXXC

    Graphical View of Domain Structure for InterPro Entry Q7LFL8

    ProtoNet protein and cluster: Q7LFL8

    UniProtKB/Swiss-Prot: CXXC5_HUMAN, Q7LFL8
    Similarity: Contains 1 CXXC-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXXC5_HUMAN, Q7LFL8
    Function: May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of
    BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA
    damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis
    Induction: By retinoic acid

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004871signal transducer activity IMP12761501
    GO:0008270zinc ion binding IEA--
         
    CXXC5 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCXXC5 3' UTR sequence
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    In Situ Assay
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CXXC5

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

    5/8 Interacting proteins for CXXC5 (Q7LFL82, 3 ENSP000003025434) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-61702 I2D: score=2 STRING: ENSP00000332973
    SMAD5Q997172, 3MINT-61823 I2D: score=2 
    SMAD7O151052, 3MINT-61811 I2D: score=2 
    SKILP127572, 3, ENSP000002591194MINT-61639 I2D: score=2 STRING: ENSP00000259119
    SMAD9O151982, 3, ENSP000003691544MINT-62067 I2D: score=2 STRING: ENSP00000369154
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IMP12761501
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascade IMP12761501

    CXXC5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CXXC5
    Search CenterWatch for drugs/clinical trials and news about CXXC5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CXXC5 gene: 
    NM_016463.7  

    Unigene Cluster for CXXC5:

    CXXC finger protein 5
    Hs.189119  [show with all ESTs]
    Unigene Representative Sequence: BC006428
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502295 ENST00000504944 ENST00000302517(uc010jfg.1) ENST00000507139
    ENST00000504844 ENST00000502336 ENST00000520967 ENST00000511048(uc003let.2)
    ENST00000512816 ENST00000509238 ENST00000502716 ENST00000503511 ENST00000511457
    ENST00000511591 ENST00000515038 ENST00000505812

    miRNA
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    hsa-miR-92a hsa-miR-218-1* hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-182* hsa-miR-659 hsa-miR-363
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB097005.1 AB097032.1 AF151029.1 AK001782.1 AK024338.1 AK314420.1 BC002490.2 BC006428.1 
    BC017439.1 BC024040.1 BC041013.1 BC050046.1 GQ379202.1 

    22 DOTS entries:

    DT.91823968  DT.95322683  DT.455254  DT.100819835  DT.120799032  DT.100819843  DT.100819841  DT.120799053 
    DT.91757929  DT.87000729  DT.92010342  DT.120799051  DT.87078288  DT.95183288  DT.100839266  DT.120799037 
    DT.95291767  DT.100819838  DT.120799034  DT.120799069  DT.95322682  DT.100819836 

    24/469 AceView cDNA sequences (see all 469):

    BM826699 BI838475 AW516068 BF035771 BF593774 BM702802 AI619564 BC017439 
    BM857286 CD677381 AA703148 BC002490 BQ890392 AI364857 AA133356 BU539350 
    BM699584 BM999151 AI160437 AI799375 BI711336 AA804787 NM_016463 AA147496 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CXXC5 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9a · 9b
    SP1:                    -     -     -     -     -                 -     -     -     -                     
    SP2:              -     -     -     -     -     -                                                         
    SP3:                                      -                                                               
    SP4:              -     -     -     -     -                                                               
    SP5:                    -     -     -     -                                                               


    ECgene alternative splicing isoforms for CXXC5

    (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

    CXXC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTGTCAC
    CXXC5 Expression
    About this image
    See CXXC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CXXC5

    SOURCE GeneReport for Unigene cluster: Hs.189119
        SABiosciences Custom PCR Arrays for CXXC5

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CXXC5

    (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 CXXC5 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cxxc51 , 5 CXXC finger 51, 5 91.64(n)1
    96.19(a)1
      18 (19.26 cM)5
    673931  NM_133687.21  NP_598448.11 
     358298185 
    chicken
    (Gallus gallus)
    Aves CXXC51 CXXC finger protein 5 73.41(n)
    80.16(a)
      416138  XM_414471.3  XP_414471.1 
    lizard
    (Anolis carolinensis)
    Reptilia CXXC56
    --
    74(a)
    1 ↔ 1
    4(78998808-78999736)
    zebrafish
    (Danio rerio)
    Actinopterygii cxxc51 CXXC finger 5 64.44(n)
    63.94(a)
      557911  XM_681066.4  XP_686158.4 


    ENSEMBL Gene Tree for CXXC5 (if available)
    TreeFam Gene Tree for CXXC5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CXXC5 gene
    CXXC42  
    1 SIMAP similar gene for CXXC5 using alignment to 12 protein entries:     CXXC5_HUMAN (see all proteins):
    CXXC4

    CXXC5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/446 NCBI SNPs in CXXC5 are shown (see all 446    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1924163481,2
    --139026377(+) CAAGGA/GAGCCA 1 -- us2k10--------
    rs1425921891,2
    --139026429(+) CGGAAA/GGAACT 1 -- us2k10--------
    rs1845093411,2
    --139026509(+) AGAGAA/GGCAAC 1 -- us2k10--------
    rs126540141,2
    C,H--139026616(+) CACCAG/ACTGCT 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1873270541,2
    --139026698(+) GAGAGA/GAAGCA 1 -- us2k10--------
    rs2001866191,2
    --139026971(+) CCACT-/TTGGGAT
    TATATGCAG
    TTGGG
    1 -- us2k10--------
    rs1917104491,2
    --139026992(+) TTGGGA/CTTATA 1 -- us2k10--------
    rs1845524881,2
    --139027053(+) GCAGGA/GTTAAT 1 -- us2k10--------
    rs1467825961,2
    --139027214(+) TGTTTA/CGGGTT 1 -- us2k10--------
    rs346449901,2
    C--139027637(+) GTCCTT/-TTTTT 1 -- us2k11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for CXXC5 (139026884 - 139063467 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CXXC5: --

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CXXC5
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CXXC5 for disorders           About GeneDecksing

    OMIM gene information: 612752    OMIM disorders: --

    6 diseases for CXXC5:    About MalaCards
    acute myeloid leukemia    myeloid leukemia    dyslexia    wilms tumor
    leukemia    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: CXXC5 (2 documents)

    Export disorders for CXXC5 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 CXXC5 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with CXXC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional involvement of RINF, retinoid-inducible nuclear factor (CXXC5), in normal and tumoral human myelopoiesis. (PubMed id 19182210)1, 2, 3 Pendino F....Lillehaug J.R. (2009)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    3. A novel Wilms tumor 1 (WT1) target gene negatively re gulates the WNT signaling pathway. (PubMed id 20220130)1, 3 Kim M.S....Lee S.B. (2010)
    4. CXXC5 is a novel BMP4-regulated modulator of Wnt signaling in neural stem cells. (PubMed id 19001364)1, 3 Andersson T....Hermanson O. (2009)
    5. The CXXC finger 5 protein is required for DNA damage-induced p53 activation. (PubMed id 19557330)1, 2 ZHANG M....SHU H. (2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)1, 2 Matsuda A....Sugano S. (2003)
    8. RINF (CXXC5) is overexpressed in solid tumors and is an unfavorable prognostic factor in breast cancer. (PubMed id 21325450)1 Knappskog S....Pendino F. (2011)
    9. Mutual exclusion of ASXL1 and NPM1 mutations in a ser ies of acute myeloid leukemias. (PubMed id 19865112)1 Carbuccia N....Mozziconacci M.J. (2009)
    10. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51523 HGNC: 26943 AceView: CXXC5 Ensembl:ENSG00000171604 euGenes: HUgn51523
    ECgene: CXXC5 H-InvDB: CXXC5

    (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 CXXC5 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 CXXC5 gene:
    Search GeneIP for patents involving CXXC5

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



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