Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PLEKHG4 Gene

protein-coding   GIFtS: 54
GCID: GC16P067311

pleckstrin homology domain containing, family G (with RhoGef...

(Previous name: spinocerebellar ataxia 4 )
(Previous symbol: SCA4)
 Explore 12 diseases affiliated with
PLEKHG4 via our new
 Human Malady Compendium 
Biological research products
for PLEKHG4
    

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

Aliases
Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member
41 2
     Purkinje Cell Atrophy-Associated Protein 12 3
ARHGEF441 2     DKFZP434I2161
SCA41 2     Spinocerebellar Ataxia 41
Pleckstrin Homology Domain-Containing Family G Member 42 3     Puratrophin-11
PRTPHN12 3     Purkinje Cell Atrophy Associated Protein 12
PH Domain-Containing Family G Member 42 3     

External Ids:    HGNC: 245011   Entrez Gene: 258942   Ensembl: ENSG000001961557   OMIM: 6095265   UniProtKB: Q58EX73   

Export aliases for PLEKHG4 gene to outside databases

Previous GC identifers: GC16P065870 GC16P053184


(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 PLEKHG4:
The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and
cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia
16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different
isoform, have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PKHG4_HUMAN, Q58EX7
Function: Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi

Gene Wiki entry for PLEKHG4


(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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLEKHG4 gene promoter:
         E2F-4   E2F-3a   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PLEKHG4 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLEKHG4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLEKHG4


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

PLEKHG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHG4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P067311:  view genomic region     (about GC identifiers)

Start:
67,311,413 bp from pter      End:
67,323,403 bp from pter
Size:
11,991 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: PKHG4_HUMAN, Q58EX7 (See protein sequence)
Recommended Name: Puratrophin-1  
Size: 1191 amino acids; 130803 Da
Caution: Defects in PLEKHG4 were initially thought (PubMed:16001362) to be the cause of spinocerebellar ataxia
16q22-linked. However, it was later shown (PubMed:17611710) that it is not the case. Spinocerebellar ataxia
16q22-linked, also known as spinocerebellar ataxia type 31 (SCA31), is caused by defects in BEAN gene
Sequence caution: Sequence=AAH82974.1; Type=Frameshift; Positions=3; Sequence=BAB15765.1; Type=Erroneous initiation;
Secondary accessions: Q4G0J8 Q4H485 Q56A69 Q9H7K4 Q9UFW0
Alternative splicing: 3 isoforms:  Q58EX7-1   Q58EX7-2   Q58EX7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLEKHG4: NX_Q58EX7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q58EX7

  • PLEKHG4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001123199.1  NP_001123200.1  NP_001123201.1  NP_001123203.1  NP_056247.1  

    ENSEMBL proteins: 
     ENSP00000457086   ENSP00000353646   ENSP00000454348   ENSP00000455423   ENSP00000455876  
     ENSP00000455622   ENSP00000401118   ENSP00000368649   ENSP00000456873   ENSP00000398030  
     ENSP00000455740   ENSP00000462601   ENSP00000464631   ENSP00000455228  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for PLEKHG4 
    GenScript Custom Purified and Recombinant Proteins Services for PLEKHG4
    Novus Biologicals PLEKHG4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PLEKHG4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--


    PLEKHG4 for ontologies           About GeneDecksing



    PLEKHG4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: PLEKHG4
    OriGene Custom Antibody Services for PLEKHG4 
    GenScript Custom Superior Antibodies Services for PLEKHG4
    Novus Biologicals PLEKHG4 Antibodies
    Search for Antibodies for PLEKHG4 at Abcam  
    Uscn Antibodies for PLEKHG4
    ThermoFisher Antibodies for PLEKHG4

    Assay Products for PLEKHG4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PLEKHG4
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PLEKHG4


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

    PLEKHG4 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q58EX7

    ProtoNet protein and cluster: Q58EX7

    1 Blocks protein family: IPB000219 DH domain

    UniProtKB/Swiss-Prot: PKHG4_HUMAN, Q58EX7
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH 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: PKHG4_HUMAN, Q58EX7
    Function: Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 5): PLEKHG4
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLEKHG4
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PLEKHG4:
    hsa-miR-1287 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-590-3p hsa-miR-340 hsa-miR-3921 hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHG4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLEKHG4 (see all 7)
    OriGene shRNA RFP: PLEKHG4
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLEKHG4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PLEKHG4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHG4 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHG4 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): PLEKHG4 (NM_001129728)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHG4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PLEKHG4
    Search LifeMap BioReagents cell lines for PLEKHG4

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG4

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005543phospholipid binding IEA--


    PLEKHG4 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for PLEKHG4:
     Increased G2M DNA content  Increased number of mitotic ce  Synthetic lethal with Ras 


    (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 PLEKHG4

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for PLEKHG4 (Q58EX72, 3 ENSP000003536464) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384322, 3, ENSP000002403164MINT-2871676 I2D: score=3 STRING: ENSP00000240316
    UBCENSP000003448184STRING: ENSP00000344818
    --Q9WMX22MINT-7048230
    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:0035023regulation of Rho protein signal transduction IEA--


    PLEKHG4 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 PLEKHG4
    Search CenterWatch for drugs/clinical trials and news about PLEKHG4 / PKHG4 

    (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 PLEKHG4 gene (5 alternative transcripts): 
    NM_001129727.1  NM_001129728.1  NM_001129729.1  NM_001129731.1  NM_015432.3  

    Unigene Cluster for PLEKHG4:

    Pleckstrin homology domain containing, family G (with RhoGef domain) member 4
    Hs.188781  [show with all ESTs]
    Unigene Representative Sequence: AB197663
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563969(uc002esp.4) ENST00000360461(uc002esr.1 uc002eso.4 uc002esq.4 uc010cef.3 uc002ess.4)
    ENST00000562144 ENST00000565899 ENST00000565773 ENST00000562744 ENST00000427155
    ENST00000379344 ENST00000568621 ENST00000450733(uc010ceg.3) ENST00000567938
    ENST00000393966 ENST00000562289 ENST00000569875 ENST00000567136

    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 5): PLEKHG4
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLEKHG4
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PLEKHG4:
    hsa-miR-1287 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-590-3p hsa-miR-340 hsa-miR-3921 hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHG4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLEKHG4 (see all 7)
    OriGene shRNA RFP: PLEKHG4
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLEKHG4
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHG4 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHG4 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): PLEKHG4 (NM_001129728)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHG4 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLEKHG4
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PLEKHG4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLEKHG4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLEKHG4

    Additional cDNA sequence: 

    AB197663.1 AK024475.1 AK304723.1 AK308298.1 AL117435.1 BC001520.2 BC054486.1 BC063501.1 
    BC082974.1 BC115389.1 BC115390.1 

    9 DOTS entries:

    DT.411290  DT.403101  DT.101982869  DT.91747807  DT.120699172  DT.97783644  DT.120699176  DT.120699173 
    DT.92423713 

    24/94 AceView cDNA sequences (see all 94):

    AW628468 AL043975 BC063501 BG165005 AK024475 AL044874 BE304515 BQ683502 
    AL043976 BQ054299 BG758747 BU727050 CD358076 BE302700 AL117435 BC001520 
    AI298335 BX391908 BF980115 AA723269 BU501259 BF515557 BG037152 BG437241 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG4 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:              -     -     -     -                                                                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                  -     -                                                                                                   

    ExUns: 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b · 27c
    SP1:                                      -                           
    SP2:                                      -                           
    SP3:                                      -                           
    SP4:                                      -                           
    SP5:                                      -                           


    ECgene alternative splicing isoforms for PLEKHG4

    (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

    PLEKHG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTGCCTTTC

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

    About this image

    PLEKHG4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)

    See PLEKHG4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLEKHG4

    SOURCE GeneReport for Unigene cluster: Hs.188781

    UniProtKB/Swiss-Prot: PKHG4_HUMAN, Q58EX7
    Tissue specificity: Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and
    Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower
    extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and
    pancreas

        SABiosciences Custom PCR Arrays for PLEKHG4
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLEKHG4
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PLEKHG4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLEKHG4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLEKHG4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG4

    (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 PLEKHG4 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008593731 pleckstrin homology domain-containing family G member more 62.25(n)
    55.88(a)
      100859373  XM_003641900.1  XP_003641948.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHG46
    --
    30(a)
    1 ↔ 1
    GL344217.1(37684-57470)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX843829.12   -- 76.28(n)    BX843829.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570596972   -- 73.08(n)    57059697 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG332756
    --
    16(a)
    1 → many
    3L(7586191-7632673)


    ENSEMBL Gene Tree for PLEKHG4 (if available)
    TreeFam Gene Tree for PLEKHG4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLEKHG4 gene
    KALRN2  ARHGEF252  PLEKHG4B2  MCF2L22  TRIO2  MCF2L2  KIAA17552  ARHGEF402  
    MCF22  
    2 SIMAP similar genes for PLEKHG4 using alignment to 10 protein entries:     PKHG4_HUMAN (see all proteins):
    tgat    PLEKHG4B

    PLEKHG4 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

    10/268 NCBI SNPs in PLEKHG4 are shown (see all 268    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs789851621,2
    --53182581(+) TGGAAG/AGTTAT 1 -- us2k14Minor allele frequency- A:0.12CSA WA NA 240
    rs1117700841,2
    C,--53183022(+) GGCATG/CAGCCA 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs129301631,2
    C,H--53183257(+) ATTTGT/GCGGGC 2 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs735928201,2
    C,F,--53184306(+) TGATTG/AAGTCA 3 -- us2k14Minor allele frequency- A:0.05WA CSA 123
    rs1119592511,2
    C,--53184535(+) CCCCAA/GTATTC 3 -- ut51 us2k12Minor allele frequency- G:0.04NA WA 120
    rs781324371,2
    C,--53184700(+) GGAGCC/GTCAGG 5 -- us2k1 ut512Minor allele frequency- G:0.11NA 122
    rs1153285991,2
    C,F,--53184803(+) ACATAC/TAGTCT 5 -- us2k1 ut512Minor allele frequency- T:0.04WA NA 238
    rs80507451,2
    C,F,H,--53184849(+) GGAGTG/AGAGAA 5 -- us2k1 ut5121Minor allele frequency- A:0.33NS EA NA WA CSA 2142
    rs605482461,2
    F,--53186141(+) TCGCTC/TACCCA 5 -- int1 ut51 us2k11Minor allele frequency- T:0.18WA 118
    rs609327621,2
    --53186287(+) GGCCCA/GGGGGT 5 -- us2k1 int1 ut510--------

    HapMap Linkage Disequilibrium report for PLEKHG4 (67311413 - 67323403 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PLEKHG4: --
    Human Gene Mutation Database (HGMD): PLEKHG4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLEKHG4
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHG4

    (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

    PLEKHG4 for disorders           About GeneDecksing

    OMIM gene information: 609526    OMIM disorders: --

    12 diseases for PLEKHG4:    About MalaCards
    spinocerebellar ataxia    spinocerebellar ataxia 4    ataxia    sensory peripheral neuropathy
    spotted fever    peripheral neuropathy    axonal neuropathy    cerebellar ataxia
    typhus    neuropathy    prostatitis    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for PLEKHG4:
    dentatorubral-pallidoluysian atrophy     Cerebellar ataxia     Spinocerebellar ataxia     Axonal neuropathy
    Human Genome Epidemiology (HuGE) Navigator: PLEKHG4 (4 documents)

    Export disorders for PLEKHG4 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 PLEKHG4 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with PLEKHG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. (PubMed id 16001362)1, 2, 3, 9 Ishikawa K....Mizusawa H. (2005)
    2. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (PubMed id 16491300)1, 3, 9 Wieczorek S....Epplen J.T. (2006)
    3. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. (PubMed id 17611710)1, 2 Amino T....Mizusawa H. (2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. New gene of spinocerebellar ataxia. (PubMed id 21357611)1 Teive H.A....Ashizawa T. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Analysis of an insertion mutation in a cohort of 94 p atients with spinocerebellar ataxia type 31 from Nagano, Japan. (PubMed id 20424877)1 Sakai H....Matsumoto N. (2010)
    10. [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia] (PubMed id 19065522)1 Zhou Y....Tang B. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 25894 HGNC: 24501 AceView: DKFZP434I216 Ensembl:ENSG00000196155 euGenes: HUgn25894
    ECgene: PLEKHG4 H-InvDB: PLEKHG4

    (According to HUGE)
    About This Section
      --

    (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 PLEKHG4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLEKHG4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PLEKHG4 gene:
    Search GeneIP for patents involving PLEKHG4

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for PLEKHG4   OriGene shRNA RFP for PLEKHG4  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLEKHG4   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLEKHG4  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     Browse OriGene siRNAs   OriGene 3'-UTR Clone for PLEKHG4  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHG4   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLEKHG4  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PLEKHG4   OriGene Custom Protein Services for PLEKHG4  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PLEKHG4
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLEKHG4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLEKHG4
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLEKHG4
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLEKHG4
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLEKHG4
     GenScript Custom Purified and Recombinant Proteins Services for PLEKHG4 GenScript cDNA clones with any tag delivered in your preferred vector for PLEKHG4
     GenScript Custom Assay Services for PLEKHG4 GenScript Custom Superior Antibodies Services for PLEKHG4
     GenScript Custom overexpressing Cell Line Services for PLEKHG4 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PLEKHG4 promoter
     Search Chromatin IP Primers for PLEKHG4
     RT2 qPCR Primer Assay in human, mouse, rat PLEKHG4
     Search GNC Networks for PLEKHG4
     SABiosciences Custom PCR Arrays for PLEKHG4
     Search Tocris compounds for PLEKHG4
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PLEKHG4 antibodies
     PLEKHG4 lysates
     Search for Antibodies for PLEKHG4 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PLEKHG4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     PLEKHG4 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for PLEKHG4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG4
     SwitchGear 3'UTR luciferase reporter plasmids for PLEKHG4
     SwitchGear Promoter luciferase reporter plasmids for PLEKHG4
     ThermoFisher Antibodies for PLEKHG4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHG4
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PLEKHG4 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4