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RMDN2 Gene

protein-coding   GIFtS: 41
GCID: GC02P038151

Regulator Of Microtubule Dynamics 2

(Previous names: family with sequence similarity 82, member A1)
(Previous symbols: FAM82A, FAM82A1)
  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
Regulator Of Microtubule Dynamics 21 2     PYST93712
FAM82A1 2 3 5     RMD42
FAM82A11 2 3 5     Family With Sequence Similarity 82, Member A2
Family With Sequence Similarity 82, Member A11 2     Microtubule-Associated Protein2
RMD-22 3     Regulator Of Microtubule Dynamics Protein 22
RMD22 5     hRMD-23
PRO341632     Protein FAM82A13

External Ids:    HGNC: 265671   Entrez Gene: 1513932   Ensembl: ENSG000001158417   OMIM: 6118725   UniProtKB: Q96LZ73   

Export aliases for RMDN2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RMDN2 Gene:
RMDN2 (regulator of microtubule dynamics 2) is a protein-coding gene. Diseases associated with RMDN2 include lung cancer susceptibility, and lung cancer. An important paralog of this gene is RMDN1.


(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_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RMDN2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRMDN2 promoter sequence
   Search Chromatin IP Primers for RMDN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RMDN2


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

Entrez Gene cytogenetic band: 2p22.2   Ensembl cytogenetic band:  2p22.2   HGNC cytogenetic band: 2p22.2

RMDN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RMDN2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P038151:  view genomic region     (about GC identifiers)

Start:
38,150,330 bp from pter      End:
38,294,285 bp from pter
Size:
143,956 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: RMD2_HUMAN, Q96LZ7 (See protein sequence)
Recommended Name: Regulator of microtubule dynamics protein 2  
Size: 410 amino acids; 47399 Da
Subunit: Interacts with microtubules
Sequence caution: Sequence=AAM81211.1; Type=Erroneous gene model prediction;
Secondary accessions: A9UMZ7 A9UN00 Q4ZG33 Q6UXN4 Q8N657 Q8N9A2 Q8NCV6 Q8NHM0
Alternative splicing: 4 isoforms:  Q96LZ7-1   Q96LZ7-2   Q96LZ7-3   Q96LZ7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RMDN2: NX_Q96LZ7

Explore proteomics data for RMDN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RMDN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001164262.1  NP_001164263.1  NP_001164264.1  NP_653314.2  

    ENSEMBL proteins: 
     ENSP00000393705   ENSP00000346549   ENSP00000399495   ENSP00000386004   ENSP00000385049  
     ENSP00000234195   ENSP00000416367   ENSP00000385529   ENSP00000406331   ENSP00000392977  

    RMDN2 Human Recombinant Protein Products:

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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:
     IPR011990 TPR-like_helical

    Graphical View of Domain Structure for InterPro Entry Q96LZ7

    ProtoNet protein and cluster: Q96LZ7

    UniProtKB/Swiss-Prot: RMD2_HUMAN, Q96LZ7
    Similarity: Belongs to the RMDN family


    RMDN2 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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    Phenotypes:
         3 GenomeRNAi human phenotypes for RMDN2:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RMDN2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RMDN2


    (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 UniProtKB/Swiss-Prot
    RMD2_HUMAN, Q96LZ7: Membrane; Single-pass membrane protein (Potential). Cytoplasm. Cytoplasm, cytoskeleton,
    spindle. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase localizes in the cytoplasm, and during mitosis
    localizes to the spindle microtubules and spindle poles. Also detected as large dots in the perinuclear region

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005874microtubule IEA--
    GO:0016021integral component of membrane IEA--

    RMDN2 for ontologies           About GeneDecksing


    (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 RMDN2
    Interactions:

        Search GeneGlobe Interaction Network for RMDN2

    (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 RMDN2 (RMD2)



    (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 RMDN2 gene (4 alternative transcripts): 
    NM_001170791.1  NM_001170792.1  NM_001170793.1  NM_144713.3  

    Unigene Cluster for RMDN2:

    Regulator of microtubule dynamics 2
    Hs.591566  [show with all ESTs]
    Unigene Representative Sequence: AK095462
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000414644 ENST00000354545 ENST00000440353(uc002rqk.1) ENST00000406384(uc002rql.3 uc021vga.1)
    ENST00000407257 ENST00000234195(uc002rqn.2) ENST00000442857 ENST00000402091
    ENST00000496735 ENST00000425641 ENST00000469469 ENST00000417700(uc002rqm.3)

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat RMDN2

    Additional mRNA sequence: 

    AF435956.1 AK057516.1 AK095462.1 AY358269.1 BC024243.2 

    9 DOTS entries:

    DT.95369025  DT.208517  DT.100017365  DT.95147060  DT.426892  DT.95369026  DT.95221039  DT.97818160 
    DT.92420674 

    Selected AceView cDNA sequences (see all 43):

    AK095462 AI613015 AI735149 BQ016194 AI394215 H47188 AF435956 N93685 
    AY358269 AI261321 NM_144713 BG565094 BI763448 BG166420 BQ017142 BI458830 
    AK057516 BQ423149 CB134196 CA308996 BG204170 BC024243 AA912597 BI830984 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RMDN2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16
    SP1:                                                                                            -                 -     -     -         
    SP2:              -     -           -     -     -                                               -                                       
    SP3:                                -     -     -                                               -                                       
    SP4:                                            -                                               -                                       
    SP5:              -     -           -           -                                                                                       


    ECgene alternative splicing isoforms for RMDN2

    (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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    RMDN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RMDN2 Expression
    About this image


    RMDN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
             Mature follicles
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Adrenal Gland (Endocrine System)
    RMDN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RMDN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591566
        Custom PCR Arrays for RMDN2
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RMDN2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rmdn21 , 5 family with sequence similarity 82, member A15
    regulator of microtubule dynamics 21
    81.46(n)1
    79.51(a)1
      17 (50.30 cM)5
    3811101  NM_201361.21  NP_958749.11 
     796149005 
    chicken
    (Gallus gallus)
    Aves FAM82A11 family with sequence similarity 82, member A1 64.79(n)
    54.03(a)
      421465  XM_419514.4  XP_419514.3 
    lizard
    (Anolis carolinensis)
    Reptilia RMDN26
    regulator of microtubule dynamics 2
    34(a)
    1 ↔ 1
    1(232351479-232385365)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX732107.12   -- 73.44(n)    BX732107.1 
    zebrafish
    (Danio rerio)
    Actinopterygii RMDN26
    regulator of microtubule dynamics 2
    27(a)
    1 ↔ 1
    13(42687341-42719280) ENSDARG00000078761
    worm
    (Caenorhabditis elegans)
    Secernentea rmd-66
    rmd-46
    (see all 8)
    Protein RMD-4 (rmd-4) mRNA, complete cds
    (see all 8)
    26(a)
    25(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    IV(5068868-5069853) WBGene00020070
    IV(5255912-5256792) WBGene00018125


    ENSEMBL Gene Tree for RMDN2 (if available)
    TreeFam Gene Tree for RMDN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RMDN2 gene
    RMDN12  RMDN32  
    2 SIMAP similar genes for RMDN2 using alignment to 6 protein entries:     RMD2_HUMAN (see all proteins):
    RMDN3    RMDN1

    RMDN2 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), 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 RMDN2 (see all 1260)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs621340121,2
    C--38150475(+) CAAGTC/TAGTAT 1 -- us2k12Minor allele frequency- T:0.05NA 122
    rs1145422311,2
    F--38150723(+) TGCATG/CATCGG 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs764560501,2
    C,F--38150751(+) TCTAGT/CTAAAT 1 -- us2k11Minor allele frequency- C:0.07EA 120
    rs744985351,2
    C--38150919(+) AGACAG/TAGTCT 1 -- us2k10--------
    rs1904827001,2
    --38151121(+) CTCCTC/GGCCTC 1 -- us2k10--------
    rs1817673701,2
    --38151136(+) GATCCA/GTCCGC 1 -- us2k10--------
    rs1417236001,2
    --38151186(+) CTGCGC/TCCTGC 1 -- us2k10--------
    rs1859719571,2
    --38151220(+) ACCATA/GGCCAG 1 -- us2k10--------
    rs560430401,2
    C--38151233(+) TTACTC/TATTCT 1 -- us2k10--------
    rs1905433551,2
    --38151306(+) CTATCA/CGTAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RMDN2 (38150330 - 38294285 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RMDN2: --
    Human Gene Mutation Database (HGMD): RMDN2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RMDN2
    DNA2.0 Custom Variant and Variant Library Synthesis for RMDN2

    (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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    OMIM gene information: 611872    OMIM disorders: --

    4 diseases for RMDN2:    
    About MalaCards
    lung cancer susceptibility    lung cancer    prostate cancer    prostatitis


    RMDN2 for disorders           About GeneDecksing


    Export disorders for RMDN2 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 RMDN2 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with RMDN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RMD-1, a novel microtubule-associated protein, functions in chromosome segregation in Caenorhabditis elegans. (PubMed id 18070910)1, 2 Oishi K.... Sawa H. (J. Cell Biol. 2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. 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)1 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
    7. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1 Guey L.T....Malats N. (Eur. Urol. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. (PubMed id 18936436)1 Chang M.H....Khoury M.J. (Am. J. Epidemiol. 2009)
    10. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1 Shen M....Lan Q. (Environ. Mol. Mutagen. 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)
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    Entrez Gene: 151393 HGNC: 26567 AceView: FLJ32954 Ensembl:ENSG00000115841 euGenes: HUgn151393
    ECgene: RMDN2 H-InvDB: RMDN2

    (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 RMDN2 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 RMDN2 gene:
    Search GeneIP for patents involving RMDN2

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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