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

RBMXL2 Gene

protein-coding   GIFtS: 50
GCID: GC11P007068

RNA Binding Motif Protein, X-Linked-Like 2

  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)
About This Section

Aliases
RNA Binding Motif Protein, X-Linked-Like 21 2     HNRPGT2 5
HNRNPGT2 3 5     HNRNPG-T2
Heterogeneous Nuclear Ribonucleoprotein G T1 2     RNA-Binding Motif Protein, X-Linked-Like-22
Testis-Specific Heterogeneous Nuclear Ribonucleoprotein G-T2 3     Testes Specific Heterogenous Nuclear Ribonucleoprotein G T2
HnRNP G-T2 3     Testes-Specific Heterogenous Nuclear Ribonucleoprotein G-T2

External Ids:    HGNC: 178861   Entrez Gene: 272882   Ensembl: ENSG000001707487   OMIM: 6054445   UniProtKB: O755263   

Export aliases for RBMXL2 gene to outside databases

Previous GC identifer: GC11P006768


(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 RBMXL2 Gene:
This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins
(hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These
proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other
aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to
shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties.
The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be
derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a
pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG
protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily
localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility.
(provided by RefSeq, Jul 2008)

GeneCards Summary for RBMXL2 Gene: 
RBMXL2 (RNA binding motif protein, X-linked-like 2) is a protein-coding gene. Diseases associated with RBMXL2 include male infertility, and infertility, and among its related super-pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is RBMY1J.




(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_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBMXL2 gene promoter:
         RFX1   AML1a   NF-YA   C/EBPalpha   NF-YB   CBF-A   CBF-B   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBMXL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBMXL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBMXL2


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

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15

RBMXL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBMXL2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P007068:  view genomic region     (about GC identifiers)

Start:
7,110,165 bp from pter      End:
7,112,379 bp from pter
Size:
2,215 bases      Orientation:
plus 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: RMXL2_HUMAN, O75526 (See protein sequence)
Recommended Name: RNA-binding motif protein, X-linked-like-2  
Size: 392 amino acids; 42814 Da
Subcellular location: Nucleus
Secondary accessions: Q6PEZ2 Q9NQU0

Explore the universe of human proteins at neXtProt for RBMXL2: NX_O75526

Explore proteomics data for RBMXL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75526

  • RBMXL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBMXL2 Protein Expression
    REFSEQ proteins: NP_055284.3  
    ENSEMBL proteins: 
     ENSP00000304139  

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    Browse Proteins at Cloud-Clone Corp. 

    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:0005730NOT nucleolus IDA--
    GO:0030529ribonucleoprotein complex IEA--

    RBMXL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012604 RBM1CTR
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry O75526

    ProtoNet protein and cluster: O75526

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB012604 RBM1CTR


    UniProtKB/Swiss-Prot: RMXL2_HUMAN, O75526
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    RBMXL2 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
         
    RBMXL2 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidRBMXL2 3' UTR sequence
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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

    SuperPaths for RBMXL2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Spliceosome0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for RBMXL2):
        Spliceosome


    RBMXL2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBMXL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/45 Interacting proteins for RBMXL2 (O755263 ENSP000003041394) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYRK2Q926303, ENSP000003421054I2D: score=1 STRING: ENSP00000342105
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    TRA2BP629953, ENSP000004169594I2D: score=2 STRING: ENSP00000416959
    MAP1LC3BQ9GZQ83, ENSP000002686074I2D: score=2 STRING: ENSP00000268607
    GABARAPO951663I2D: score=2 
    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 RBMXL2 (RMXL2)

    Search CenterWatch for drugs/clinical trials and news about RBMXL2 / RMXL2

    (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 RBMXL2 gene: 
    NM_014469.4  

    Unigene Cluster for RBMXL2:

    RNA binding motif protein, X-linked-like 2
    Hs.121605  [show with all ESTs]
    Unigene Representative Sequence: NM_014469
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000306904(uc001mfc.2)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidRBMXL2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF069682.2 AK292271.1 BC029295.1 BC057796.1 

    2 DOTS entries:

    DT.100672874  DT.107193 

    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

    RBMXL2 expression in normal human tissues (normalized intensities)      RBMXL2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAGGGGCT
    RBMXL2 Expression
    About this image


    RBMXL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   
             sperm   
     
     Blood Brain Barrier (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells
     
     Brain (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier

    See RBMXL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBMXL2

    SOURCE GeneReport for Unigene cluster: Hs.121605

    UniProtKB/Swiss-Prot: RMXL2_HUMAN, O75526
    Tissue specificity: Expressed predominantly in spermatocytes and less in round spermatids (at protein level).
    Expressed in germ cells

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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 RBMXL2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbmxl21 , 5 RNA binding motif protein, X-linked-like 21, 5 81.45(n)1
    82.68(a)1
      7 (56.10 cM)5
    765721  NM_029660.21  NP_083936.11 
     1072094455 
    chicken
    (Gallus gallus)
    Aves RBMX6
    heterogeneous nuclear ribonucleoprotein G
    72(a)
    1 → many
    4(4390057-4400409)
    zebrafish
    (Danio rerio)
    Actinopterygii rbmx6
    RNA binding motif protein, X-linked
    60(a)
    1 → many
    14(32725471-32732600)
    fruit fly
    (Drosophila melanogaster)
    Insecta tra26
    transformer 2
    13(a)
    1 → many
    2R(10489509-10491857)
    worm
    (Caenorhabditis elegans)
    Secernentea rsp-86
    Protein RSP-8, isoform a
    13(a)
    1 → many
    III(11826215-11831475)


    ENSEMBL Gene Tree for RBMXL2 (if available)
    TreeFam Gene Tree for RBMXL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBMXL2 gene
    RBMY1J2  RBMY1E2  RBMY1F2  TRA2B2  RBMXL32  RBMY1B2  RBMXL12  RBMY1A12  
    CIRBP2  RBM32  RBMX2  TRA2A2  RBMY1D2  
    16 SIMAP similar genes for RBMXL2 using alignment to 1 protein entry:     RMXL2_HUMAN:
    RBMX    RBM    RBMXL1    HNRNPA1    RBMXL3    CIRBP
    RBM3    RBMY1F    RBMY1J    RBMY1D    RBMY1E    RBMY1A1
    RBMY1B    RBMY1C    RBM38    SFRS3

    RBMXL2 for paralogs           About GeneDecksing



    (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

    10/131 SNPs in RBMXL2 are shown (see all 131)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763739571,2
    C,F--7108246(+) AAACAG/ATTCCA 1 -- us2k11Minor allele frequency- A:0.12EA 120
    rs1445951481,2
    --7108248(+) ACAGTC/TCCACA 1 -- us2k10--------
    rs714704601,2
    C,F--7108268(+) ACCTCAGATA/
            
    AGAGG
    1 -- us2k12Minor allele frequency- -:0.50NA CSA 4
    rs1999824371,2
    C--7108271(+) TCAGAG/TAAGAG 1 -- us2k10--------
    rs2001702511,2
    C--7108272(-) CCTCTG/TANNNN 1 -- us2k10--------
    rs764281691,2
    C,F--7108311(+) TCTTTG/ATTCTA 1 -- us2k11Minor allele frequency- A:0.12WA 118
    rs740509301,2
    C,F--7108342(+) GGATGG/CAGTCA 1 -- us2k13Minor allele frequency- C:0.06WA NA 240
    rs124193901,2
    C,H--7108403(+) ttcacC/Taactg 1 -- us2k1 tfbs32Minor allele frequency- T:0.12NA EA 126
    rs1144942561,2
    F--7108548(+) GAAATT/GTACAT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1833398741,2
    --7108552(+) TTTACA/TTTTTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBMXL2 (7110165 - 7112379 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RBMXL2: --

    Human Gene Mutation Database (HGMD): RBMXL2
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605444    OMIM disorders: --

    2 diseases for RBMXL2:    About MalaCards
    male infertility    infertility

    1 disease from the University of Copenhagen DISEASES database for RBMXL2:
    Male infertility

    RBMXL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RBMXL2

    Export disorders for RBMXL2 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 RBMXL2 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with RBMXL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene. (PubMed id 10958650)1, 2, 3 Elliott D.J.... Cooke H.J. (2000)
    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. Localization of the germ cell-specific protein, hnRNP G-T, in testicular biopsies of azoospermic men. (PubMed id 12389739)1, 9 Maymon B.B....Yavetz H. (2002)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. 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. (2012)
    6. Expression levels of hnRNP G and hTra2-beta1 correlat e with opposite outcomes in endometrial cancer biology. (PubMed id 20607830)1 Ouyang Y.Q....Stickeler E. (2011)
    7. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    8. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (2010)
    9. Novel domains in the hnRNP G/RBMX protein with distinct roles in RNA binding and targeting nascent transcripts. (PubMed id 21327109)1 Kanhoush R....Penrad-Mobayed M. (2010)
    10. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27288 HGNC: 17886 Ensembl:ENSG00000170748 euGenes: HUgn27288 ECgene: RBMXL2 Kegg: 27288
    H-InvDB: RBMXL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for RBMXL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for RBMXL2 gene:
    Search GeneIP for patents involving RBMXL2

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