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PLEKHG5 Gene

protein-coding   GIFtS: 53
GCID: GC01M006526

Pleckstrin Homology Domain Containing, Family G (With RhoGef...

  See PLEKHG5-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
Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain)
Member 51 2
     KIAA07203 5
Synectin-Binding Guanine Exchange Factor1 2     Syx2
Guanine Nucleotide Exchange Factor 7202 3     Tech2
GEF7202 3     NFkB Activating Protein2
PH Domain-Containing Family G Member 52 3     Novel PH Domain-Containing Protein2
CMTRIC2 5     Pleckstrin Homology Domain Containing Family G Member 52
DSMA42 5     Pleckstrin Homology Domain-Containing Family G Member 52

External Ids:    HGNC: 291051   Entrez Gene: 574492   Ensembl: ENSG000001716807   OMIM: 6111015   UniProtKB: O948273   

Export aliases for PLEKHG5 gene to outside databases

Previous GC identifers: GC01M006462 GC01M005673


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLEKHG5 Gene:
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this
gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for PLEKHG5 Gene:
PLEKHG5 (pleckstrin homology domain containing, family G (with RhoGef domain) member 5) is a protein-coding gene. Diseases associated with PLEKHG5 include spinal muscular atrophy, distal, autosomal recessive, 4, and distal spinal muscular atrophy 4. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG7.

UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827
Function: Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway.
Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of
endothelial cells chemotaxis




(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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLEKHG5 gene promoter:
         AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PLEKHG5 promoter sequence
   Search Chromatin IP Primers for PLEKHG5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHG5


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

Entrez Gene cytogenetic band: 1p36.31   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.31

PLEKHG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHG5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M006526:  view genomic region     (about GC identifiers)

Start:
6,526,152 bp from pter      End:
6,580,121 bp from pter
Size:
53,970 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family G member 5  
Size: 1062 amino acids; 117451 Da
Subunit: Interacts with GIPC1/synectin and RHOA (By similarity)
Sequence caution: Sequence=BAA34440.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC77354.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAC85124.1;
Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Secondary accessions: B3KU07 B7Z2M3 B7Z5X2 F5GZ21 F5H1I0 Q5SY17 Q5T8W5 Q5T8W9 Q6ZNM0 Q7Z436
Q86YD8 Q96BS1
Alternative splicing: 7 isoforms:  O94827-1   O94827-2   O94827-3   O94827-4   O94827-5   O94827-6   O94827-7   (No experimental confirmation available. Ref.2 (BAH13058) sequence is in conflict in position: 38:D->E)

Explore the universe of human proteins at neXtProt for PLEKHG5: NX_O94827

Explore proteomics data for PLEKHG5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLEKHG5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001036128.1  NP_001036129.1  NP_001036130.1  NP_001252521.1  NP_001252522.1  NP_001252523.1  NP_065682.2  NP_941374.2  

    ENSEMBL proteins: 
     ENSP00000366977   ENSP00000366954   ENSP00000366957   ENSP00000366961   ENSP00000383706  
     ENSP00000366969   ENSP00000439625   ENSP00000441445   ENSP00000344570   ENSP00000383704  
     ENSP00000366966   ENSP00000437710  
    Reactome Protein details: O94827

    PLEKHG5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PLEKHG5

     
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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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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    3 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry O94827

    ProtoNet protein and cluster: O94827

    2 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain


    Find genes that share domains with PLEKHG5           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKHG5_HUMAN, O94827
    Function: Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway.
    Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of
    endothelial cells chemotaxis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PLEKHG5           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Plekhg5):
     cardiovascular system  homeostasis/metabolism  integument  muscle  renal/urinary system 

    Find genes that share phenotypes with PLEKHG5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Plekhg5tm1.1Jbar for PLEKHG5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEKHG5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLEKHG5
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    hsa-miR-3163 hsa-miR-642a hsa-miR-663 hsa-miR-1908 hsa-miR-340 hsa-miR-3133 hsa-miR-650 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHG5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG5


    (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
    PKHG5_HUMAN, O94827: Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Cell junction (By
    similarity). Cell projection, lamellipodium (By similarity). Note=Predominantly cytoplasmic, however when cells
    are stimulated found in perinuclear regions. Localized at cell-cell junctions in quiescent endothelial cells, it
    relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction ISS--
    GO:0030027lamellipodium ISS--

    Find genes that share ontologies with PLEKHG5           About GenesLikeMe


    (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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    SuperPaths for PLEKHG5 About    
    See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    4Signaling by FGFR
    Signalling by NGF0.71


    Find genes that share SuperPaths with PLEKHG5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for PLEKHG5
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLEKHG5
    Interactions:

        Search GeneGlobe Interaction Network for PLEKHG5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PLEKHG5 (ENSP000003669774) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGAP35ENSP000003857204STRING: ENSP00000385720
    ARHGEF1ENSP000003372614STRING: ENSP00000337261
    OPHN1ENSP000003477104STRING: ENSP00000347710
    PIK3R2ENSP000002222544STRING: ENSP00000222254
    A2MENSP000003239294STRING: ENSP00000323929
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0035767endothelial cell chemotaxis ISS--
    GO:0043065positive regulation of apoptotic process TAS--
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling IMP12761501

    Find genes that share ontologies with PLEKHG5           About GenesLikeMe



    (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 PLEKHG5 (PKHG5)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PLEKHG5 gene (8 alternative transcripts): 
    NM_001042663.1  NM_001042664.1  NM_001042665.1  NM_001265592.1  NM_001265593.1  NM_001265594.1  NM_020631.4  NM_198681.3  

    Unigene Cluster for PLEKHG5:

    Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
    Hs.284232  [show with all ESTs]
    Unigene Representative Sequence: NM_198681
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489097(uc009vma.1) ENST00000377748(uc001ann.1 uc001ano.1 uc001anq.1 uc001anp.1)
    ENST00000487949 ENST00000377725 ENST00000377728 ENST00000377732 ENST00000400915
    ENST00000377740 ENST00000537245 ENST00000535355 ENST00000340850(uc009vmb.1 uc001anl.1)
    ENST00000400913(uc001anj.1 uc010nzr.1 uc001ank.1 uc001anm.1)
    ENST00000377737 ENST00000544978
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    hsa-miR-3163 hsa-miR-642a hsa-miR-663 hsa-miR-1908 hsa-miR-340 hsa-miR-3133 hsa-miR-650 hsa-miR-744
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      QuantiFast Probe-based Assays in human, mouse, rat PLEKHG5

    Additional mRNA sequence: 

    AB018263.2 AB097001.1 AK024676.1 AK096347.1 AK125550.1 AK294875.1 AK299523.1 AK301239.1 
    BC015231.1 BC036671.2 

    16 DOTS entries:

    DT.97763290  DT.92431005  DT.86847340  DT.101984073  DT.100790315  DT.95177003  DT.100779737  DT.95268062 
    DT.100779738  DT.100779736  DT.121426112  DT.121426128  DT.121426129  DT.91981409  DT.40258074  DT.95268043 

    Selected AceView cDNA sequences (see all 180):

    U94507 NM_003790 Z39975 U94501 NM_148971 AK125550 BM770798 NM_148967 
    BF002663 U74611 BM783972 BM783979 BM850652 AB018263 U94510 BM792178 
    U72763 NM_148970 AA326431 NM_148966 U94503 U94506 U94509 NM_148973 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG5 (see all 17)    About this scheme

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


    ECgene alternative splicing isoforms for PLEKHG5

    (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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    PLEKHG5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCGGATGC
    PLEKHG5 Expression
    About this image


    PLEKHG5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             T Helper Cells Peripheral Blood
    PLEKHG5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHG5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.284232

    UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827
    Tissue specificity: Predominantly expressed in the peripheral nervous system and brain. Highest expression is
    observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle,
    ovary and liver. Weakly expressed in glioblastoma (GBM) cell lines

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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 PLEKHG5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekhg51 , 5 pleckstrin homology domain containing, family G (with more1, 5 84.28(n)1
    86.57(a)1
      4 (82.86 cM)5
    2696081  NM_001285999.11  NP_001272928.11 
     1520724985 
    chicken
    (Gallus gallus)
    Aves PLEKHG51 pleckstrin homology domain containing, family G (with more 74.63(n)
    73.31(a)
      426013  XM_423692.4  XP_423692.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plekhg51 pleckstrin homology domain containing, family G (with more 66.16(n)
    70.8(a)
      100496612  XM_002933857.2  XP_002933903.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7964041 pleckstrin homology domain-containing family G member more 63.52(n)
    58.28(a)
      796404  XM_002666521.3  XP_002666567.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426746
    --
    13(a)
    1 → many
    3L(20142714-20191417)
    worm
    (Caenorhabditis elegans)
    Secernentea rhgf-26
    Protein RHGF-2 (rhgf-2) mRNA, complete cds
    18(a)
    1 → many
    II(4107219-4127849) WBGene00006476


    ENSEMBL Gene Tree for PLEKHG5 (if available)
    TreeFam Gene Tree for PLEKHG5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLEKHG5 gene
    PLEKHG72  PLEKHG62  
    2 SIMAP similar genes for PLEKHG5 using alignment to 2 protein entries:     PKHG5_HUMAN (see all proteins):
    PLEKHG6    ARHGEF16

    Find genes that share paralogs with PLEKHG5           About GenesLikeMe



    (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 PLEKHG5 (see all 1280)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702174
    Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)4--see VAR_0702172 T M mis40--------
    VAR_0353574
    Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)4--see VAR_0353572 F S mis40--------
    VAR_0702184
    Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)4--see VAR_0702182 G R mis40--------
    rs637503151,2
    Cpathogenic16546873(-) GTCCTC/TCCTCC 16 S F mis10--------
    rs49089021,2
    C--5724711(+) CACACC/ACACAT 1 -- int15Minor allele frequency- A:0.07WA NA CSA 126
    rs584442611,2
    C--6539101(+) TGCTTT/-CTCTC 8 -- int11Minor allele frequency- -:0.00NA 2
    rs580831801,2
    C--6540589(+) AAAAA-/ATTAGC 8 -- int10--------
    rs2020919331,2
    C--6541922(+) AAAAA-/AGCCAA 8 -- int10--------
    rs790966211,2
    --6543111(+) GCCCCA/GGGCAG 8 -- ds50010--------
    rs456260391,2
    C,F--6543194(-) GGGCTG/CGTAAG 8 -- ds50013Minor allele frequency- C:0.05NS CSA WA 296

    HapMap Linkage Disequilibrium report for PLEKHG5 (6526152 - 6580121 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEKHG5 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508836CNV Insertion20534489
    nsv1187CNV Insertion18451855
    nsv470691CNV Loss18288195
    nsv871698CNV Loss21882294
    nsv462061CNV Loss19166990
    nsv871719CNV Loss21882294
    nsv870465CNV Loss21882294
    dgv127n71CNV Loss21882294
    dgv119n71CNV Loss21882294
    dgv125n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): PLEKHG5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLEKHG5
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHG5

    (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.)
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    OMIM gene information: 611101   
    OMIM disorders: 611067  615376  
    UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827
  • Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]: A neuromuscular disorder.
    Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous
    group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the
    spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical
    distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and
    wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and
    atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is
    characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation.
    Bulbar symptoms and pyramidal signs are absent. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]: A form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive
    intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features
    intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction
    velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 5 diseases for PLEKHG5:    
    About MalaCards
    spinal muscular atrophy, distal, autosomal recessive, 4    distal spinal muscular atrophy 4    charcot-marie-tooth disease, recessive intermediate c    spinal muscular atrophy
    muscular atrophy


    Find genes that share disorders with PLEKHG5           About GenesLikeMe

    Genetic Association Database (GAD): PLEKHG5
    Human Genome Epidemiology (HuGE) Navigator: PLEKHG5 (2 documents)

    Export disorders for PLEKHG5 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 PLEKHG5 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with PLEKHG5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. (PubMed id 17564964)1, 2, 3 Maystadt I....Verellen-Dumoulin C. (Am. J. Hum. Genet. 2007)
    2. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. (PubMed id 23844677)1, 2 Kim H.J....Choi B.O. (Orphanet J Rare Dis 2013)
    3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    4. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PubMed id 19305408)1, 4 Newton-Cheh C.... Stricker B.H. (Nat. Genet. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)1, 2 Matsuda A....Sugano S. (Oncogene 2003)
    7. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    8. The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration. (PubMed id 24126053)1 Dachsel J.C....Anastasiadis P.Z. (Mol. Cell. Biol. 2013)
    9. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. (PubMed id 23777631)2 Azzedine H....Chrast R. (Hum. Mol. Genet. 2013)
    10. Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx. (PubMed id 23335514)1 Ngok S.P....Anastasiadis P.Z. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57449 HGNC: 29105 AceView: TNFRSF25andKIAA0720 Ensembl:ENSG00000171680 euGenes: HUgn57449
    ECgene: PLEKHG5 H-InvDB: PLEKHG5

    (According to HUGE)
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    HUGE: KIAA0720

    (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 PLEKHG5 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 PLEKHG5 gene:
    Search GeneIP for patents involving PLEKHG5

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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