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

PLEKHG5 Gene

protein-coding   GIFtS: 53
GCID: GC01M006526

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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain)
Member 51 2
     CMTRIC2
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
DSMA42 5     Pleckstrin Homology Domain Containing Family G Member 52
KIAA07203 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are NRAGE signals death through JNK and Signaling by GPCR. 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: Activates the NF-kappa-B signaling pathway and RHOA. Appears to be involved in the control of neuronal
cell differentiation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PLEKHG5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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)
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Note=Predominantly cytoplasmic, however when cells
are stimulated found in perinuclear regions (By similarity)
Sequence caution: Sequence=BAA34440.2; Type=Erroneous initiation; 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O94827

  • PLEKHG5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLEKHG5 Protein Expression
    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
    Human Recombinant Protein Products for PLEKHG5: 
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    Cloud-Clone Corp. Proteins for PLEKHG5 

    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:0005622intracellular ----
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction ISS--

    PLEKHG5 for ontologies           About GeneDecksing



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


    PLEKHG5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKHG5_HUMAN, O94827
    Function: Activates the NF-kappa-B signaling pathway and RHOA. Appears to be involved in the control of neuronal
    cell differentiation

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    PLEKHG5 for ontologies           About GeneDecksing


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

    PLEKHG5 for phenotypes           About GeneDecksing

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

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PLEKHG5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    4Signaling by FGFR
    Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/10        Reactome Pathways for PLEKHG5 (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    PLEKHG5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PLEKHG5

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

    5/52 Interacting proteins for PLEKHG5 (ENSP000003669774) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGAP35ENSP000003857204STRING: ENSP00000385720
    ARHGEF1ENSP000003372614STRING: ENSP00000337261
    OPHN1ENSP000003477104STRING: ENSP00000347710
    A2MENSP000003239294STRING: ENSP00000323929
    ARAP2ENSP000003028954STRING: ENSP00000302895
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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 IEA--
    GO:0035767endothelial cell chemotaxis ISS--
    GO:0043065positive regulation of apoptotic process TAS--
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascade IMP12761501

    PLEKHG5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PLEKHG5 (PKHG5)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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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    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 

    24/180 AceView cDNA sequences (see all 180):

    AK091201 BQ024649 BC015231 NM_148974 BC042606 AK096347 NM_148973 BM794760 
    BQ068309 Z39975 BF063042 NM_148965 BM695193 AA326431 U94501 U94506 
    NM_148969 BE563566 AI275938 BU500889 U94508 U78029 NM_198681 AK094463 

    GeneLoc Exon Structure

    5/17 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™, 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

    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


    See PLEKHG5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLEKHG5

    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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    (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 PLEKHG5 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekhg51 , 5 pleckstrin homology domain containing, family G (with more1, 5 84.51(n)1
    86.94(a)1
      4 (82.86 cM)5
    2696081  NM_001004156.21  NP_001004156.11 
     1520724985 
    chicken
    (Gallus gallus)
    Aves PLEKHG51 pleckstrin homology domain containing, family G (with more 74.23(n)
    72.75(a)
      426013  XM_423692.3  XP_423692.3 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7964041 pleckstrin homology domain-containing family G member more 61.04(n)
    55.89(a)
      796404  XM_002666521.2  XP_002666567.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426746
    --
    12(a)
    1 → many
    3L(20142714-20191417)
    worm
    (Caenorhabditis elegans)
    Secernentea rhgf-26
    Protein RHGF-2
    18(a)
    1 → many
    II(4120337-4127849)


    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)
    About This Section
    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

    PLEKHG5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1278 SNPs in PLEKHG5 are shown (see all 1278)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0353574
    Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)4--see VAR_0353572 F S 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
    rs15365931,2
    C,F--6543284(+) ACTGAT/CAATGC 8 -- ds50018Minor allele frequency- C:0.08MN NA NS WA CSA 644
    rs115746601,2
    C,F--6543289(-) GCAGAG/ACATTA 8 -- ds50013Minor allele frequency- A:0.08NA NS 336

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611101   
    OMIM disorders: 611067  
    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

  • 8 diseases for PLEKHG5:    About MalaCards
    spinal muscular atrophy, distal, autosomal recessive, 4    distal spinal muscular atrophy 4    spinal muscular atrophy    muscular atrophy
    motor neuron disease    glioblastoma    neuronitis    endotheliitis


    PLEKHG5 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PLEKHG5 gene, integrated from 9 sources (see all 21):
    (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. (2007)
    2. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    3. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PubMed id 19305408)1, 4 Newton-Cheh C....Stricker B.H. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2003)
    6. 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. (1998)
    7. Phosphorylation-mediated 14-3-3 protein binding regula tes the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx. (PubMed id 23335514)1 Ngok S.P....Anastasiadis P.Z. (2013)
    8. The GTPase-deficient Rnd proteins are stabilized by th eir effectors. (PubMed id 22807448)1 Goh L.L. and Manser E. (2012)
    9. Biochemical and computational analysis of LNX1 interac ting proteins. (PubMed id 22087225)1 Wolting C.D....McGlade C.J. (2011)
    10. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (2010)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 57449 HGNC: 29105 AceView: TNFRSF25andKIAA0720 Ensembl:ENSG00000171680 euGenes: HUgn57449
    ECgene: PLEKHG5 H-InvDB: PLEKHG5

    (According to HUGE)
    About This Section
    HUGE: KIAA0720

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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