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PLEKHG4B Gene

protein-coding   GIFtS: 46
GCID: GC05P000140

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

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(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 4B1 2
PH Domain-Containing Family G Member 4B2 3
CTD-2231H16.12
Pleckstrin Homology Domain-Containing Family G Member 4B2
KIAA19093

External Ids:    HGNC: 293991   Entrez Gene: 1534782   Ensembl: ENSG000001534047   UniProtKB: Q96PX93   

Export aliases for PLEKHG4B gene to outside databases

Previous GC identifer: GC05P000194


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PLEKHG4B Gene:
PLEKHG4B (pleckstrin homology domain containing, family G (with RhoGef domain) member 4B) is a protein-coding gene. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is KALRN.


(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_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLEKHG4B gene promoter:
         Pax-6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLEKHG4B promoter sequence
   Search Chromatin IP Primers for PLEKHG4B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHG4B


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

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

PLEKHG4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHG4B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P000140:  view genomic region     (about GC identifiers)

Start:
140,373 bp from pter      End:
190,087 bp from pter
Size:
49,715 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, 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: PKH4B_HUMAN, Q96PX9 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family G member 4B  
Size: 1271 amino acids; 139667 Da

Explore the universe of human proteins at neXtProt for PLEKHG4B: NX_Q96PX9

Explore proteomics data for PLEKHG4B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys942
  • Modification sites at PhosphoSitePlus

  • See PLEKHG4B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443141.3  
    ENSEMBL proteins: 
     ENSP00000283426   ENSP00000422493  

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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 Q96PX9

    ProtoNet protein and cluster: Q96PX9

    1 Blocks protein domain: IPB000219 DH domain

    UniProtKB/Swiss-Prot: PKH4B_HUMAN, Q96PX9
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain


    Find genes that share domains with PLEKHG4B           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
         
    Find genes that share ontologies with PLEKHG4B           About GenesLikeMe


    Animal Models:
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    (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 PLEKHG4B
    Interactions:

        Search GeneGlobe Interaction Network for PLEKHG4B

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

    2 Interacting proteins for PLEKHG4B (ENSP000002834264) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    BVESENSP000003131724STRING: ENSP00000313172
    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 ----

    Find genes that share ontologies with PLEKHG4B           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 PLEKHG4B (PKH4B)



    (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 PLEKHG4B gene: 
    NM_052909.3  

    Unigene Cluster for PLEKHG4B:

    Pleckstrin homology domain containing, family G (with RhoGef domain) member 4B
    Hs.535800  [show with all ESTs]
    Unigene Representative Sequence: NM_052909
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283426(uc003jak.2) ENST00000502646 ENST00000504041
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat PLEKHG4B

    Additional mRNA sequence: 

    AB067496.2 AK075513.1 AK125163.1 AK309784.1 BC008352.1 

    7 DOTS entries:

    DT.442899  DT.407696  DT.95074141  DT.101958999  DT.99936068  DT.91750772  DT.100643750 

    Selected AceView cDNA sequences (see all 53):

    BU169148 AK125163 BE222242 NM_052909 AW262547 BC008352 BQ686524 BU737324 
    AI890356 CB147632 AW245359 BX442102 BF445407 BQ690738 AB067496 BX431227 
    BE710812 AW245715 AA453285 BE549685 BM006782 AA987521 AK075513 BG112423 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG4B    About this scheme

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


    ECgene alternative splicing isoforms for PLEKHG4B

    (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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    PLEKHG4B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PLEKHG4B Expression
    About this image

    PLEKHG4B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHG4B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.535800
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG4B

    (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 PLEKHG4B gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia PLEKHG4B1 pleckstrin homology domain containing, family G (with more 75.66(n)
    66.49(a)
      609578  XM_005639702.1  XP_005639759.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHG4B6
    pleckstrin homology domain containing, family G (w...
    51(a)
    1 ↔ 1
    6(56466360-56551716)
    zebrafish
    (Danio rerio)
    Actinopterygii PLEKHG4B (2 of 2)6
    PLEKHG4B (1 of 2)6
    pleckstrin homology domain containing, family G (w...
    pleckstrin homology domain containing, family G (w...
    59(a)
    18(a)
    1 ↔ many
    1 ↔ many
    16(56731985-56777882) ENSDARG00000086950
    16(56675461-56720770) ENSDARG00000069929
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304566
    CG332756
    --
    19(a)
    17(a)
    many ↔ many
    many ↔ many
    2R(12987746-12995047)
    3L(7586191-7632673)


    ENSEMBL Gene Tree for PLEKHG4B (if available)
    TreeFam Gene Tree for PLEKHG4B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLEKHG4B gene
    KALRN2  ARHGEF252  MCF2L22  TRIO2  MCF2L2  KIAA17552  PLEKHG42  ARHGEF402  
    MCF22  
    2 SIMAP similar genes for PLEKHG4B using alignment to 2 protein entries:     PKH4B_HUMAN (see all proteins):
    KIAA1755    PLEKHG4

    Find genes that share paralogs with PLEKHG4B           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 PLEKHG4B (see all 1669)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1390869781,2
    C,Funtested1169649(+) CCTCCG/AGGAGC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5811
    rs1895767211,2
    --138381(+) ACATTA/CTTTAA 1 -- us2k10--------
    rs1820378991,2
    --138447(+) CTCCCC/TTTGCG 1 -- us2k10--------
    rs1496525141,2
    --138450(+) CCCTTG/TCGTGA 1 -- us2k10--------
    rs68742091,2
    C,F,A,H--138460(+) AAGTTT/CGAGCT 1 -- us2k123Minor allele frequency- C:0.30NS EA NA WA CSA 2483
    rs1876496711,2
    --138747(+) TGGGCC/GTCGTG 1 -- us2k10--------
    rs1890612831,2
    C--138749(+) GGCCTC/TGTGCT 1 -- us2k10--------
    rs767190531,2
    C--138841(+) GTAAGA/GTTCTG 1 -- us2k10--------
    rs1487880651,2
    C--138912(+) TGTCAA/GAGCAA 1 -- us2k10--------
    rs1117213421,2
    C,F--138936(+) TAAACA/GCTCAA 1 -- us2k12Minor allele frequency- G:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for PLEKHG4B (140373 - 190087 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEKHG4B (see all 33):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2548346CNV Deletion19546169
    dgv140e180CNV Deletion20482838
    nsv821536CNV Deletion20802225
    esv1561581CNV Deletion17803354
    esv1181815CNV Deletion17803354
    nsv512844CNV Insertion21212237
    esv1220599CNV Insertion17803354
    esv272238CNV Insertion20981092
    esv1691643CNV Insertion17803354
    esv268019CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLEKHG4B
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHG4B

    (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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    Find genes that share disorders with PLEKHG4B           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: PLEKHG4B (1 document)

    Export disorders for PLEKHG4B 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 PLEKHG4B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PLEKHG4B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    4. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 153478 HGNC: 29399 AceView: KIAA1909 Ensembl:ENSG00000153404 euGenes: HUgn153478
    ECgene: PLEKHG4B H-InvDB: PLEKHG4B

    (According to HUGE)
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    HUGE: KIAA1909

    (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 PLEKHG4B 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 PLEKHG4B gene:
    Search GeneIP for patents involving PLEKHG4B

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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