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

RNF130 Gene

protein-coding   GIFtS: 48
GCID: GC05M179345

ring finger protein 130

 Explore 5 diseases affiliated with
RNF130 via our new
 Human Malady Compendium 
Biological research products
for RNF130
    

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

Aliases
Ring Finger Protein 1301 2 3     E3 Ubiquitin-Protein Ligase RNF1302
G1RZFP1 2     G1-Related Zinc Finger Protein2
GOLIATH1 2     EC 6.3.2.-3
GP1 2     EC 2.1.18
Goliath Homolog2 3     EC 6.3.28
H-Goliath2 3     

External Ids:    HGNC: 182801   Entrez Gene: 558192   Ensembl: ENSG000001132697   UniProtKB: Q86XS83   

Export aliases for RNF130 gene to outside databases

Previous GC identifers: GC05M179446 GC05M179492 GC05M179315 GC05M179382 GC05M174107


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

Entrez Gene summary for RNF130:
The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein
that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found
to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth
factor withdrawal-induced apoptosis of myeloid precursor cells. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GOLI_HUMAN, Q86XS8
Function: May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3
ubiquitin-protein ligase




(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_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNF130 gene promoter:
         c-Fos   AP-1   ATF-2   CUTL1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF130 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNF130

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF130


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

RNF130 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF130 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M179345:  view genomic region     (about GC identifiers)

Start:
179,345,911 bp from pter      End:
179,499,118 bp from pter
Size:
153,208 bases      Orientation:
minus 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: GOLI_HUMAN, Q86XS8 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF130 precursor  
Size: 419 amino acids; 46405 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Cytoplasm
Sequence caution: Sequence=AAF67007.1; Type=Frameshift; Positions=110, 116;
Secondary accessions: Q32P32 Q641P9 Q6P177 Q7L2U2 Q9P0J9

Explore the universe of human proteins at neXtProt for RNF130: NX_Q86XS8

Post-translational modifications:

  • In vivo measurements suggest this protein is glycosylated (PubMed:19159218). In contrast, in vitro experiments failed
  • to detect glycosylation (PubMed:16549277)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86XS8

  • 2 DME Specific Peptides for RNF130 (Q86XS8)
     AVGTRMP  RILPCKH 

    RNF130 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060904.2  
    ENSEMBL proteins: 
     ENSP00000429509   ENSP00000430237   ENSP00000261947   ENSP00000430999   ENSP00000429242  

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    Uscn Proteins for RNF130

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016021integral to membrane IEA--


    RNF130 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

    RNF130 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001841 Znf_RING
     IPR003137 Protease-assoc_domain
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q86XS8

    ProtoNet protein and cluster: Q86XS8

    2 Blocks protein families:
    IPB001841 Zn-finger
    IPB003137 Protease-associated PA


    UniProtKB/Swiss-Prot: GOLI_HUMAN, Q86XS8
    Similarity: Contains 1 PA (protease associated) domain
    Similarity: Contains 1 RING-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GOLI_HUMAN, Q86XS8
    Function: May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3
    ubiquitin-protein ligase

    Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22 EC 2.1.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA16549277
    GO:0008270zinc ion binding IEA--


    RNF130 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for RNF130:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with Ras 


    (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



    UniProtKB/Swiss-Prot: GOLI_HUMAN, Q86XS8
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RNF130

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/544 Interacting proteins for RNF130 (Q86XS82, 3 ENSP000002619474) via UniProtKB, MINT, STRING, and/or I2D (see all 544)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2NP610882, 3, ENSP000003161764MINT-7947479 I2D: score=1 STRING: ENSP00000316176
    SCN2AQ992502, 3MINT-64837 I2D: score=3 
    TTLL3Q9Y4R72, 3MINT-64838 I2D: score=1 
    UBE2D2P628373, ENSP000003817174I2D: score=1 STRING: ENSP00000381717
    UBE2E1P519653, ENSP000003037094I2D: score=1 STRING: ENSP00000303709
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0012501programmed cell death ISS13679316
    GO:0016567protein ubiquitination ----


    RNF130 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 RNF130
    Search CenterWatch for drugs/clinical trials and news about RNF130 / GOLI 

    (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, 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 RNF130 gene: 
    NM_018434.4  

    Unigene Cluster for RNF130:

    Ring finger protein 130
    Hs.484363  [show with all ESTs]
    Unigene Representative Sequence: AL831873
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522208 ENST00000521389(uc003mll.1 uc003mlm.1) ENST00000261947
    ENST00000520564 ENST00000521901 ENST00000520911 ENST00000522885 ENST00000519708
    ENST00000523487

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    hsa-miR-644 hsa-miR-520d-5p hsa-miR-147 hsa-miR-374c hsa-miR-655 hsa-miR-524-5p hsa-miR-590-3p hsa-miR-509-3p
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    Additional cDNA sequence: 

    AB209800.1 AF155650.1 AK313089.1 AL831873.1 AY083998.1 BC017100.1 BC065244.1 BC082267.1 
    BC108306.1 BC113864.1 BC114472.1 

    16 DOTS entries:

    DT.446422  DT.99982777  DT.100824260  DT.120830785  DT.75100535  DT.120830787  DT.100726855  DT.120830770 
    DT.91797153  DT.100824264  DT.120830764  DT.120830809  DT.91926559  DT.100824262  DT.121630433  DT.40248353 

    24/446 AceView cDNA sequences (see all 446):

    AI567085 AI200736 BG055457 AW024979 AI769946 AW131613 CA944924 AI583987 
    CB241498 BM709172 AA430360 BQ774793 CA422830 BM723499 D79226 BM021495 
    AW299944 BU608590 BE048710 AW612601 AY083998 AI719360 BX333053 BU628921 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RNF130    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                -                                   -         
    SP2:              -     -           -                                   -         
    SP3:                                -                             -     -         
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for RNF130

    (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

    RNF130 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCACACAAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RNF130 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNF130

    SOURCE GeneReport for Unigene cluster: Hs.484363

    UniProtKB/Swiss-Prot: GOLI_HUMAN, Q86XS8
    Tissue specificity: Ubiquitously expressed. Highly expressed in leukocytes. Not expressed in erythroblasts

        SABiosciences Expression via Pathway-Focused PCR Array including RNF130: 
              Ubiquitin Ligases in human mouse rat

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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 RNF130 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1301 , 5 ring finger protein 1301, 5 93.16(n)1
    98.09(a)1
      11 (30.16 cM)5
    590441  NM_021540.31  NP_067515.21 
     500253465 
    chicken
    (Gallus gallus)
    Aves RNF1301 ring finger protein 130 79.07(n)
    81.88(a)
      416281  XM_414601.3  XP_414601.3 
    lizard
    (Anolis carolinensis)
    Reptilia RNF1306
    --
    80(a)
    1 ↔ 1
    2(139983859-140046307)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.337632 Xenopus laevis transcribed sequence with weak similarity more 78.2(n)    BJ088082.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc14g022 wufc14g02 77.9(n)   323940  57053425 
    fruit fly
    (Drosophila melanogaster)
    Insecta gol6
    goliath
    22(a)
    1 → many
    2R(20960150-20971843)
    worm
    (Caenorhabditis elegans)
    Secernentea H10E21.56
    Protein H10E21.5
    20(a)
    1 → many
    III(20527-23962)


    ENSEMBL Gene Tree for RNF130 (if available)
    TreeFam Gene Tree for RNF130 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RNF130 gene
    ZNRF32  RNF432  RNF1482  RNF1492  RNF1332  RNF1672  RNF1502  RNF2152  
    RNF1282  ZNRF42  RNF132  
    7 SIMAP similar genes for RNF130 using alignment to 6 protein entries:     GOLI_HUMAN (see all proteins):
    RNF150    RNF128    RNF149    RNF13    RNF133    RNF148
    LOC284996

    RNF130 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

    10/1924 NCBI SNPs in RNF130 are shown (see all 1924    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478430671,2
    --179382041(+) TGGTTC/TGGAAA 1 -- ds50010--------
    rs1172006991,2
    --179382136(+) CAGTGG/AGGAGC 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1403798921,2
    --179382152(+) TTACAA/CGTCCC 1 -- ds50010--------
    rs1816937831,2
    --179382215(+) AATTAA/TCACAG 1 -- ds50010--------
    rs1441371071,2
    --179382216(+) ATTAT-/CACAGAG 1 -- ds50010--------
    rs1856778271,2
    --179382361(+) TTCCTC/TTCACG 1 -- ds50010--------
    rs123324691,2
    C,F,H,--179382594(+) ATGCAC/TAAAAA 1 -- ut319Minor allele frequency- T:0.07NS EA WA 1204
    rs1912163271,2
    --179382847(+) CTGCAA/GTTGAC 1 -- int10--------
    rs1811433801,2
    --179382862(+) TCATCC/TATCTT 1 -- int10--------
    rs32095711,2
    --179382920(-) CAACAC/TGCCAT 1 -- int11Minor allele frequency- T:0.00MN 184

    HapMap Linkage Disequilibrium report for RNF130 (179345911 - 179499118 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RNF130: --

    SABiosciences Cancer Mutation PCR Assays
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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

    RNF130 for disorders           About GeneDecksing

    5 diseases for RNF130:    About MalaCards
    gestational trophoblastic neoplasm    trophoblastic neoplasm    progeria    hyperinsulinism
    hyperglycemia

    1 disease from the University of Copenhagen DISEASES database for RNF130:
    Gestational trophoblastic neoplasm

    Export disorders for RNF130 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 RNF130 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with RNF130)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. h-Goliath, paralog of GRAIL, is a new E3 ligase protein, expressed in human leukocytes. (PubMed id 16549277)1, 2 Guais A....Bulle F. (2006)
    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. Goliath, a ring-H2 mitochondrial protein, regulated by luteinizing hormone/human chorionic gonadotropin in rat Leydig cells. (PubMed id 13679316)1, 2 Guais A.... Bulle F. (2004)
    4. Cloning of murine G1RP, a novel gene related to Drosophila melanogaster g1. (PubMed id 10806348)1, 3 Baker S.J. and Reddy E.P. (2000)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Genome-wide association study of coronary heart disea se and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1 Lettre G....Boerwinkle E. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. (PubMed id 19690564)1 van Wijk S.J....Timmers H.T. (2009)
    10. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55819 HGNC: 18280 AceView: RNF130 Ensembl:ENSG00000113269 euGenes: HUgn55819
    ECgene: RNF130 H-InvDB: RNF130

    (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 RNF130 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 RNF130 gene:
    Search GeneIP for patents involving RNF130

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



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