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PLEKHG4 Gene

protein-coding   GIFtS: 58
GCID: GC16P067311

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

(Previous name: spinocerebellar ataxia 4)
(Previous symbol: SCA4)
  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)
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Aliases
Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain)
Member 41 2
     PH Domain-Containing Family G Member 42 3
SCA41 2     Purkinje Cell Atrophy-Associated Protein 12 3
puratrophin-11 2     Spinocerebellar Ataxia 41
Pleckstrin Homology Domain-Containing Family G Member 42 3     ARHGEF442
PRTPHN12 3     Purkinje Cell Atrophy Associated Protein 12

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLEKHG4 Gene:
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)

GeneCards Summary for PLEKHG4 Gene:
PLEKHG4 (pleckstrin homology domain containing, family G (with RhoGef domain) member 4) is a protein-coding gene. Diseases associated with PLEKHG4 include spinocerebellar ataxia 4, and sensory peripheral neuropathy. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is KALRN.

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

Gene Wiki entry for PLEKHG4 Gene


(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:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for PLEKHG4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, 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., 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: 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

Explore proteomics data for PLEKHG4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys405, Lys423, Lys511, Lys608, Lys674, Lys869, Lys922, Lys1049
  • Modification sites at PhosphoSitePlus

  • See PLEKHG4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

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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
    ARHGEF: Rho guanine nucleotide exchange factors

    4 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001251 CRAL-TRIO_dom
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q58EX7

    ProtoNet protein and cluster: Q58EX7

    1 Blocks protein domain: IPB000219 DH domain

    UniProtKB/Swiss-Prot: PKHG4_HUMAN, Q58EX7
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain


    PLEKHG4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
         
    PLEKHG4 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEKHG4
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    miRNA
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    miRTarBase miRNAs that target PLEKHG4:
    hsa-mir-124-3p (MIRT022840), hsa-mir-331-3p (MIRT043462), hsa-mir-93-3p (MIRT038911), hsa-mir-335-5p (MIRT018367)

    Block miRNA regulation of human, mouse, rat PLEKHG4 using miScript Target Protectors
    7 qRT-PCR 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG4


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLEKHG4
    Interactions:

        Search GeneGlobe Interaction Network for PLEKHG4

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 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
    BVESENSP000003131724STRING: ENSP00000313172
    --Q9WMX22MINT-7048230
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035023regulation of Rho protein signal transduction ----

    PLEKHG4 for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for PLEKHG4 (PKHG4)



    (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, Primers from OriGene, and/or QIAGEN )
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    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
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    7 qRT-PCR 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
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      QuantiFast Probe-based Assays in human, mouse, rat PLEKHG4

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 94):

    BQ683502 AL044874 AW628468 BE304515 BG165005 BC001520 BG758747 BC063501 
    BU727050 AI298335 AK024475 AL043975 AL043976 CD358076 AL117435 BE302700 
    BQ054299 BC054486 BE350760 BF515557 BG437241 CF993821 BF434715 AI056683 

    GeneLoc Exon Structure

    Selected 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™, 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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    PLEKHG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGCCTTTC
    PLEKHG4 Expression
    About this image


    PLEKHG4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
     
     Testis (Reproductive System)
    PLEKHG4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHG4 Protein Expression

    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

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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLEKHG4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekhg41 , 5 pleckstrin homology domain containing, family G (with more1, 5 80.55(n)1
    76.06(a)1
      8 (53.04 cM)5
    1020751  NM_001081333.11  NP_001074802.11 
     1053732745 
    chicken
    (Gallus gallus)
    Aves PLEKHG41 pleckstrin homology domain containing, family G (with more 58.95(n)
    51.38(a)
      100859373  XM_004944102.1  XP_004944159.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHG46
    pleckstrin homology domain containing, family G (w...
    32(a)
    1 ↔ 1
    GL344217.1(34378-57470)
    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
    CG304566
    --
    18(a)
    18(a)
    many ↔ many
    many ↔ many
    3L(7586191-7632673)
    2R(12987746-12995047)


    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)
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    Paralogs for PLEKHG4 gene
    KALRN2  ARHGEF252  MCF2L22  PLEKHG4B2  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, 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 PLEKHG4 (see all 408)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1488800721,2
    Cuntested153188738(+) CGGCGA/GGGCTG 10 R G mis10--------
    rs1821718241,2
    --53182495(+) CAGTCC/TTCATC 1 -- us2k10--------
    rs789851621,2
    C,F--53182581(+) TGGAAG/AGTTAT 1 -- us2k14Minor allele frequency- A:0.12CSA WA NA 240
    rs557805091,2
    C,F--53182702(+) AAGGCC/TTCGTA 1 -- us2k12Minor allele frequency- T:0.03WA NA 238
    rs1459059331,2
    C--53182705(+) GCCTCA/GTAGTT 1 -- us2k10--------
    rs1871448291,2
    --53182717(+) ACTAGC/TCGTCA 1 -- us2k10--------
    rs1915849191,2
    --53182834(+) CCCAGA/GTTCAA 1 -- us2k10--------
    rs1846301431,2
    --53182910(+) ATTTTC/TTGTAT 1 -- us2k10--------
    rs1511067371,2
    --53182997(+) GGCCTC/GCCAAA 1 -- us2k10--------
    rs1117700841,2
    C,F--53183022(+) GGCATG/CAGCCA 1 -- us2k11Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for PLEKHG4 (67311413 - 67323403 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEKHG4 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2888n71CNV Loss21882294
    nsv906803CNV Loss21882294
    dgv2886n71CNV Loss21882294
    nsv524492CNV Loss19592680
    nsv827707CNV Loss20364138
    nsv457513CNV Loss19166990
    dgv2885n71CNV Loss21882294
    nsv524363CNV Loss19592680
    nsv827708CNV Gain20364138
    nsv471092CNV Gain18288195

    Human Gene Mutation Database (HGMD): PLEKHG4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 609526    OMIM disorders: --

    13 diseases for PLEKHG4:    
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    spinocerebellar ataxia 4    sensory peripheral neuropathy    dentatorubral-pallidoluysian atrophy    axonal neuropathy
    spotted fever    spinocerebellar ataxia    typhus    cerebellar ataxia
    ataxia    peripheral neuropathy    neuropathy    neuronitis
    prostatitis

    4 diseases from the University of Copenhagen DISEASES database for PLEKHG4:
    dentatorubral-pallidoluysian atrophy     Cerebellar ataxia     Spinocerebellar ataxia     Axonal neuropathy

    PLEKHG4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PLEKHG4
    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)
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    PubMed articles for PLEKHG4 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with PLEKHG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 4, 9 Wieczorek S....Epplen J.T. (J. Hum. Genet. 2006)
    2. 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. (Am. J. Hum. Genet. 2005)
    3. [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, 4 Zhou Y....Tang B. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008)
    4. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. (PubMed id 17611710)1, 2 Amino T.... Mizusawa H. (J. Hum. Genet. 2007)
    5. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. New gene of spinocerebellar ataxia. (PubMed id 21357611)1 Teive H.A....Ashizawa T. (Brain 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (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: 25894 HGNC: 24501 AceView: DKFZP434I216 Ensembl:ENSG00000196155 euGenes: HUgn25894
    ECgene: PLEKHG4 H-InvDB: PLEKHG4

    (According to HUGE)
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      --

    (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 PLEKHG4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/503595/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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