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

CDC42SE2 Gene

protein-coding   GIFtS: 48
GCID: GC05P130581

CDC42 small effector 2

 Explore 8 diseases affiliated with
CDC42SE2 via our new
 Human Malady Compendium 
Biological research products
for CDC42SE2
    

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

Aliases
CDC42 Small Effector 21 2
SPEC21 2 3
Small Effector Of CDC42 Protein 22 3
FLJ219671
CDC42 Small Effector Protein 22
Non-Kinase Cdc42 Effector Protein SPEC22

External Ids:    HGNC: 185471   Entrez Gene: 569902   Ensembl: ENSG000001589857   UniProtKB: Q9NRR33   

Export aliases for CDC42SE2 gene to outside databases

Previous GC identifers: GC00U916970 GC05P130627 GC05P125790


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

UniProtKB/Swiss-Prot: C42S2_HUMAN, Q9NRR3
Function: Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin
filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated
F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in
macrophages




(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_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDC42SE2 gene promoter:
         TBP   STAT1   STAT4   STAT1beta   STAT1alpha   Evi-1   c-Ets-1   AREB6   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC42SE2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDC42SE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDC42SE2


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q23.3   HGNC cytogenetic band: 5q31.1

CDC42SE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC42SE2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P130581:  view genomic region     (about GC identifiers)

Start:
130,581,186 bp from pter      End:
130,734,140 bp from pter
Size:
152,955 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: C42S2_HUMAN, Q9NRR3 (See protein sequence)
Recommended Name: CDC42 small effector protein 2  
Size: 84 amino acids; 9223 Da
Subunit: Interacts with CDC42 (in GTP-bound form). Interacts weakly with RAC1 and not at all with RHOA
Subcellular location: Cytoplasm, cytoskeleton. Cell membrane; Lipid-anchor. Cell projection, phagocytic cup.
Note=Recruited to the activated TCR prior actin polymerization. Localizes at the phagocytic cup of macrophages
Miscellaneous: CDC42SE2 is mapped in the genomic region associated with schizophrenia
Secondary accessions: B2R622 Q4KMT9

Explore the universe of human proteins at neXtProt for CDC42SE2: NX_Q9NRR3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NRR3

  • CDC42SE2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001033791.1  NP_064625.1  

    ENSEMBL proteins: 
     ENSP00000426779   ENSP00000353706   ENSP00000427421   ENSP00000425292   ENSP00000378667  

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    Uscn Proteins for CDC42SE2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001891phagocytic cup IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--


    CDC42SE2 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

    CDC42SE2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000095 PAK_box_Rho-bd

    Graphical View of Domain Structure for InterPro Entry Q9NRR3

    ProtoNet protein and cluster: Q9NRR3

    UniProtKB/Swiss-Prot: C42S2_HUMAN, Q9NRR3
    Domain: The CRIB domain mediates interaction with CDC42
    Similarity: Belongs to the CDC42SE/SPEC family
    Similarity: Contains 1 CRIB domain


    (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: C42S2_HUMAN, Q9NRR3
    Function: Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin
    filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated
    F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in
    macrophages

    miRNA
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    hsa-miR-3664-5p hsa-miR-4272 hsa-miR-15a hsa-miR-503 hsa-miR-371-5p hsa-miR-218 hsa-miR-570 hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidCDC42SE2 3' UTR sequence
    Inhib. RNA
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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:0005198structural molecule activity IDA10816584
    GO:0005515protein binding IPI10816584


    CDC42SE2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CDC42SE2:
     Decreased Salmonella enterica  


    (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 CDC42SE2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CDC42SE2 (Q9NRR33 ENSP000003537064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42P609533, ENSP000003144584I2D: score=1 STRING: ENSP00000314458
    RAC1P630003, ENSP000003484614I2D: score=2 STRING: ENSP00000348461
    UBCENSP000003448184STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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:0006909phagocytosis IEA--
    GO:0008360regulation of cell shape IEA--
    GO:0009966regulation of signal transduction IDA10816584


    CDC42SE2 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 CDC42SE2

    1 HMDB Compound for CDC42SE2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about CDC42SE2 / C42S2 

    (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 CDC42SE2 gene (2 alternative transcripts): 
    NM_001038702.1  NM_020240.2  

    Unigene Cluster for CDC42SE2:

    CDC42 small effector 2
    Hs.508829  [show with all ESTs]
    Unigene Representative Sequence: BC058909
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502840 ENST00000511432 ENST00000515533 ENST00000506419 ENST00000504701
    ENST00000503291 ENST00000360515(uc003kvi.3 uc003kvk.3) ENST00000505065(uc003kvh.3)
    ENST00000502582 ENST00000506929 ENST00000502639 ENST00000395246(uc003kvj.3)


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    hsa-miR-3664-5p hsa-miR-4272 hsa-miR-15a hsa-miR-503 hsa-miR-371-5p hsa-miR-218 hsa-miR-570 hsa-miR-548l
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    Additional cDNA sequence: 

    AF131831.1 AF189692.1 AK025620.1 AK312406.1 BC023555.2 BC050430.1 BC058909.1 BC096703.1 
    BC096738.1 BC098349.1 

    14 DOTS entries:

    DT.92021416  DT.100824836  DT.92437197  DT.100824845  DT.100824846  DT.100026524  DT.101957741  DT.100824844 
    DT.99929388  DT.101986587  DT.120850324  DT.120850400  DT.86807558  DT.95342688 

    24/333 AceView cDNA sequences (see all 333):

    AW264004 BC050430 BM479470 AI797435 R87625 AI440226 BQ232988 BQ007919 
    F07614 BQ879330 AI580170 BM740466 R45661 AA516010 AI537319 AA724601 
    AW073769 AA807536 BU192320 BI756734 F03130 Z45477 BU681917 CR626635 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CDC42SE2    About this scheme

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


    ECgene alternative splicing isoforms for CDC42SE2

    (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

    CDC42SE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGTGGTGCC

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

    About this image
    See CDC42SE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDC42SE2

    SOURCE GeneReport for Unigene cluster: Hs.508829

    UniProtKB/Swiss-Prot: C42S2_HUMAN, Q9NRR3
    Tissue specificity: Widely expressed. Expressed at higher level in T-lymphocytes. Highly expressed in CCRF-CEM
    T-lymphocytes, Jurkat T-lymphocytes, and Raji B-lymphocytes compared (at protein level)

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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 CDC42SE2 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc42se21 , 5 CDC42 small effector 21, 5 90.87(n)1
    100(a)1
      11 (32.13 cM)5
    727291  NM_178626.31  NP_848741.11 
     547174565 
    chicken
    (Gallus gallus)
    Aves CDC42SE21 CDC42 small effector 2 88.1(n)
    96.43(a)
      768825  XM_001231514.2  XP_001231515.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDC42SE26
    --
    98(a)
    1 ↔ 1
    2(31445365-31452735)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164472 Xenopus laevis transcribed sequences 89.89(n)    BJ616651.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1721161 zgc:172116 80.95(n)
    94.05(a)
      794234  NM_001159835.1  NP_001153307.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spec26
    Spec2
    48(a)
    1 → many
    3R(1442368-1449803)


    ENSEMBL Gene Tree for CDC42SE2 (if available)
    TreeFam Gene Tree for CDC42SE2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDC42SE2 gene
    CDC42SE12  
    1 SIMAP similar gene for CDC42SE2 using alignment to 3 protein entries:     C42S2_HUMAN (see all proteins):
    CDC42SE1

    CDC42SE2 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

    10/2103 NCBI SNPs in CDC42SE2 are shown (see all 2103    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017417761,2
    C--130597873(+) TTTTTG/TTTCTA 2 -- us2k10--------
    rs1167578001,2
    C,F,--130597962(+) GTAGCG/ATATCA 2 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1130889701,2
    C,--130598103(+) AAAAT-/AAAAAA 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs342149921,2
    C--130598108(+) AAAAA-/ATTGGT 2 -- us2k10--------
    rs112420691,2
    C,F,A,H,--130598318(+) GGACCC/ACGACC 2 -- us2k120Minor allele frequency- A:0.43NS EA NA WA CSA 2328
    rs1431444711,2
    --130598320(+) ACCACG/TACCAG 2 -- us2k10--------
    rs1482378941,2
    --130598342(+) TCTCAG/TGTCTC 2 -- us2k10--------
    rs1864802361,2
    --130598375(+) TGCACA/GTAACC 2 -- us2k10--------
    rs1996400201,2
    --130598493(+) TTGTG-/TTTTTT 2 -- us2k10--------
    rs107080761,2
    C--130598649(+) GAGAA-/TTTTTT 2 -- us2k1 trp31Minor allele frequency- T:0.00CSA 2

    HapMap Linkage Disequilibrium report for CDC42SE2 (130581186 - 130734140 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CDC42SE2
         1 CNV: 99296
         2 Indels: 99297 27800

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDC42SE2
    DNA2.0 Custom Variant and Variant Library Synthesis for CDC42SE2

    (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

    CDC42SE2 for disorders           About GeneDecksing

    8 diseases for CDC42SE2:    About MalaCards
    intrahepatic cholangiocarcinoma    endometrial carcinoma    papillary adenocarcinoma    endometrial adenocarcinoma
    cholangiocarcinoma    adenocarcinoma    carcinoma    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: CDC42SE2 (2 documents)

    Export disorders for CDC42SE2 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 CDC42SE2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CDC42SE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SPECs, small binding proteins for Cdc42. (PubMed id 10816584)1, 2, 3 Pirone D.M.... Burbelo P.D. (2000)
    2. The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse. (PubMed id 15840583)1, 2, 9 Ching K.H.... Burbelo P.D. (2005)
    3. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. (PubMed id 17030554)1, 2 Chen X.... Kendler K.S. (2006)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    7. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PubMed id 18804346)1 Edwards T.L....Chen X. (2008)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Biochemical characterization of distinct regions of SPEC molecules and their role in phagocytosis. (PubMed id 17045588)2 Ching K.H.... Burbelo P.D. (2007)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56990 HGNC: 18547 AceView: CDC42SE2 Ensembl:ENSG00000158985 euGenes: HUgn56990
    ECgene: CDC42SE2 H-InvDB: CDC42SE2

    (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 CDC42SE2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDC42SE2 gene:
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