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

DRP2 Gene

protein-coding   GIFtS: 53
GCID: GC0XP100474

dystrophin related protein 2

 Explore 8 diseases affiliated with
DRP2 via our new
 Human Malady Compendium 
Biological research products
for DRP2
    

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

Aliases
Dystrophin Related Protein 21 2
DRP-22 3
Dystrophin-Related Protein 22

External Ids:    HGNC: 30321   Entrez Gene: 18212   Ensembl: ENSG000001023857   OMIM: 3000525   UniProtKB: Q134743   

Export aliases for DRP2 gene to outside databases

Previous GC identifers: GC0XP095756 GC0XP097436 GC0XP098510 GC0XP099246 GC0XP100281 GC0XP100361 GC0XP090278


(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 DRP2:
Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated
complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to
resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is
expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: DRP2_HUMAN, Q13474
Function: Possibly involved in membrane-cytoskeleton interactions of the central nervous system




(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_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DRP2 gene promoter:
         Bach1   Elk-1   Tal-1   AP-4   Nkx5-1   C/EBPalpha   E47   CHOP-10   IRF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDRP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DRP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DRP2


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

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22

DRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DRP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP100474:  view genomic region     (about GC identifiers)

Start:
100,474,758 bp from pter      End:
100,519,486 bp from pter
Size:
44,729 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: DRP2_HUMAN, Q13474 (See protein sequence)
Recommended Name: Dystrophin-related protein 2  
Size: 957 amino acids; 107962 Da
Subcellular location: Cytoplasm, cytoskeleton (Probable)
Sequence caution: Sequence=AAC50538.1; Type=Erroneous initiation; Sequence=AAI11696.2; Type=Erroneous initiation;
Sequence=BAF82514.1; Type=Erroneous initiation;
Secondary accessions: A6ZKI5 A8K1B0 B1B1F3 B4DIZ0
Alternative splicing: 2 isoforms:  Q13474-1   Q13474-2   

Explore the universe of human proteins at neXtProt for DRP2: NX_Q13474

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13474

  • DRP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001164655.1  NP_001930.2  

    ENSEMBL proteins: 
     ENSP00000385038   ENSP00000378635   ENSP00000362007   ENSP00000441051   ENSP00000444752  

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    Uscn Proteins for DRP2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--


    DRP2 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

    DRP2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR015154 EF-hand_dom_typ2
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-like_dom
     IPR017433 Dystrophin-related_2
     IPR018159 Spectrin/alpha-actinin

    Graphical View of Domain Structure for InterPro Entry Q13474

    ProtoNet protein and cluster: Q13474

    3 Blocks protein families:
    IPB000433 Zn-finger
    IPB002017 Spectrin repeat
    IPB002349 WW domain signature


    UniProtKB/Swiss-Prot: DRP2_HUMAN, Q13474
    Similarity: Contains 2 spectrin repeats
    Similarity: Contains 1 WW domain
    Similarity: Contains 1 ZZ-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: DRP2_HUMAN, Q13474
    Function: Possibly involved in membrane-cytoskeleton interactions of the central nervous system

         Genatlas biochemistry entry for DRP2:
    dystrophin related protein 2,expressed in brain and spinal cord,homolog of Apo-dystrophin 2 (Dp116)

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    hsa-miR-4291 hsa-miR-3130-5p hsa-miR-15a hsa-miR-4272 hsa-miR-29a hsa-miR-128 hsa-miR-134 hsa-miR-30d
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--


    DRP2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Drp2tm1.2Brp for DRP2
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Drp2):
     nervous system  no phenotypic analysis 

    DRP2 for phenotypes           About GeneDecksing


    (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 DRP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for DRP2 (Q134742, 3 ENSP000003786354) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DTNAQ9Y4J82, 3, ENSP000003820644MINT-15464 I2D: score=3 STRING: ENSP00000382064
    UTRNP469393, ENSP000003565154I2D: score=1 STRING: ENSP00000356515
    DAG1Q141183, ENSP000003124354I2D: score=1 STRING: ENSP00000312435
    PRXQ9BXM03, ENSP000003260184I2D: score=2 STRING: ENSP00000326018
    DPYSL4ENSP000003398504STRING: ENSP00000339850
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development TAS8640231


    DRP2 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 DRP2
    Search CenterWatch for drugs/clinical trials and news about DRP2 

    (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 DRP2 gene (2 alternative transcripts): 
    NM_001171184.1  NM_001939.2  

    Unigene Cluster for DRP2:

    Dystrophin related protein 2
    Hs.159291  [show with all ESTs]
    Unigene Representative Sequence: NM_001939
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402866 ENST00000395209(uc004egz.2) ENST00000372916 ENST00000538510
    ENST00000541709(uc011mrh.1)

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    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate DRP2 (see all 67):
    hsa-miR-4291 hsa-miR-3130-5p hsa-miR-15a hsa-miR-4272 hsa-miR-29a hsa-miR-128 hsa-miR-134 hsa-miR-30d
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    Additional cDNA sequence: 

    AK091670.1 AK289825.1 AK295843.1 BC111695.1 U43519.1 

    2 DOTS entries:

    DT.105087  DT.101958663 

    24 AceView cDNA sequences:

    BP349199 AL707081 Z41024 BQ880940 AU118913 NM_001939 BC036095 CB121687 
    BQ917733 CD515257 AA779788 U43519 BQ889942 BX100505 AK091670 BI553820 
    BF060990 F06333 Z45309 BP349171 BM547974 AI369362 BI597786 AA453041 

    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

    DRP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    DRP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Extraembryonic endoderm-like cells (Generation of extrae...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DRP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DRP2

    SOURCE GeneReport for Unigene cluster: Hs.159291

    UniProtKB/Swiss-Prot: DRP2_HUMAN, Q13474
    Tissue specificity: Brain and spinal cord; very low levels in eye, ovary, epididymis and testis; not in cardiac and
    skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including DRP2: 
              Neurotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DRP2

    (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 DRP2 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 Drp21 , 5 dystrophin related protein 21, 5 90.67(n)1
    95.09(a)1
      X (56.18 cM)5
    134971  NM_010078.31  NP_034208.21 
     1344045515 
    chicken
    (Gallus gallus)
    Aves DRP21 dystrophin related protein 2 80.4(n)
    88.81(a)
      422193  XM_003641095.1  XP_003641143.1 
    lizard
    (Anolis carolinensis)
    Reptilia DRP26
    --
    89(a)
    1 ↔ 1
    GL343451.1(148658-182137)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.49752 Transcribed sequence with moderate similarity to protein more 73.33(n)    BQ393607.1 
    zebrafish
    (Danio rerio)
    Actinopterygii drp21 dystrophin related protein 2 69.06(n)
    72.27(a)
      558055  NM_001080567.1  NP_001074036.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dys6
    Dystrophin
    10(a)
    1 → many
    3R(15286810-15421117)
    worm
    (Caenorhabditis elegans)
    Secernentea dys-16
    Dystrophin-1
    7(a)
    1 → many
    I(11526909-11557783)


    ENSEMBL Gene Tree for DRP2 (if available)
    TreeFam Gene Tree for DRP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DRP2 gene
    DTNA2  UTRN2  DYTN2  DTNB2  DMD2  
    3 SIMAP similar genes for DRP2 using alignment to 2 protein entries:     DRP2_HUMAN (see all proteins):
    dystrophin    DMD    UTRN

    DRP2 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

    10/626 NCBI SNPs in DRP2 are shown (see all 626    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357861631,2
    C,--100472952(+) GGGCTA/GCTTAC 2 -- us2k12Minor allele frequency- G:0.00NA 4
    rs1510061531,2
    --100473024(+) GATCAG/TGCCAT 2 -- us2k10--------
    rs1875043141,2
    --100473093(+) AAAGAG/TATATA 2 -- us2k10--------
    rs59672681,2
    C,A,--100473184(+) TGTATC/AAAAAT 2 -- us2k11Minor allele frequency- A:0.00NA 2
    rs59672691,2
    C,F,A,--100473198(+) TAAAAT/GAATAG 2 -- us2k1 tfbs33Minor allele frequency- G:0.40NA WA CSA 5
    rs1930163961,2
    --100473204(+) AATAGA/GTTTCT 2 -- us2k10--------
    rs1834750661,2
    --100473303(+) GATCAA/CAACAT 2 -- us2k10--------
    rs1388307091,2
    --100473312(+) ATCACA/GCTGGA 2 -- us2k10--------
    rs1427293131,2
    --100473354(+) ATTAAA/TAATAA 2 -- us2k10--------
    rs1881528061,2
    --100473378(+) TTCATA/TAAAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DRP2 (100474758 - 100519486 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DRP2: --
    Human Gene Mutation Database (HGMD): DRP2

    Locus Specific Mutation Databases (LSDB): DRP2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DRP2
    DNA2.0 Custom Variant and Variant Library Synthesis for DRP2

    (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

    DRP2 for disorders           About GeneDecksing

    OMIM gene information: 300052    OMIM disorders: --

    8 diseases for DRP2:    About MalaCards
    duchenne muscular dystrophy    muscular dystrophy    bipolar disorder    homocysteine
    dementia    neuropathy    ischemia    schizophrenia

    Genetic Association Database (GAD): DRP2
    Human Genome Epidemiology (HuGE) Navigator: DRP2 (15 documents)

    Export disorders for DRP2 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 DRP2 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with DRP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of DRP2, a novel human dystrophin homologue. (PubMed id 8640231)1, 2, 3, 9 Roberts R.G.... Bobrow M. (1996)
    2. Dihydropyrimidinase-related protein 2 (DRP-2) gene and association to deficit and nondeficit schizophrenia. (PubMed id 15858820)1, 4 Hong L.E....Thaker G.K. (2005)
    3. [The human dihydropyrimidinase-related protein 2 (DRP-2) gene on chromosome 8p21 is associated with paranoid-type schizophrenia] (PubMed id 15027329)1, 4 Nakata K. and Ujike H. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The human dihydropyrimidinase-related protein 2 gene on chromosome 8p21 is associated with paranoid-type schizophrenia. (PubMed id 12679234)1, 4 Nakata K....Kuroda S. (2003)
    6. No association between the dihydropyrimidinase-related protein 2 (DRP-2) gene and bipolar disorder in humans. (PubMed id 12951196)1, 4 Nakata K....Kuroda S. (2003)
    7. Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex. (PubMed id 10767429)1, 9 Tommasi di Vignano A....Dente L. (2000)
    8. C-reactive protein gene polymorphisms affect plasma CRP and homocysteine concentrations in subjects with and without angiographically confirmed coronary artery disease. (PubMed id 18401567)1 Pasalic D....Stavljenic-Rukavina A. (2008)
    9. Proteomic characterization of protein phosphatase 1 complexes in ischemia-reperfusion and ischemic tolerance. (PubMed id 17683050)1 Cid C....Alcazar A. (2007)
    10. Polymorphisms and haplotypes in the C-reactive protein gene and risk of dementia. (PubMed id 16854501)1 van Oijen M....Breteler M.M. (2007)

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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: 1821 HGNC: 3032 AceView: DRP2 Ensembl:ENSG00000102385 euGenes: HUgn1821
    ECgene: DRP2 H-InvDB: DRP2

    (According to HUGE)
    About This Section
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    (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 DRP2 Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for DRP2 Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DRP2 gene:
    Search GeneIP for patents involving DRP2

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