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    PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 [ Homo sapiens (human) ]

    Gene ID: 55200, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PLEKHG6provided by HGNC
    Official Full Name
    pleckstrin homology and RhoGEF domain containing G6provided by HGNC
    Primary source
    HGNC:HGNC:25562
    See related
    Ensembl:ENSG00000008323 MIM:611743; AllianceGenome:HGNC:25562
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MyoGEF; ARHGEF46
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in small intestine (RPKM 12.7), colon (RPKM 11.9) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p13.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6310332..6328506)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6319720..6337898)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6419498..6437672)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6309051-6309662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6310889-6311501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6311502-6312113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6319522-6320145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6320176-6320677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6323515-6324018 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:6324019-6324520 and GRCh37_chr12:6324521-6325024 Neighboring gene CD9 molecule Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:6327115-6328314 Neighboring gene Sharpr-MPRA regulatory region 3368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6332057-6332610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6332611-6333162 Neighboring gene uncharacterized LOC105369625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6333163-6333716 Neighboring gene Sharpr-MPRA regulatory region 10655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6350388-6350888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6350889-6351389 Neighboring gene CRISPRi-validated cis-regulatory element chr12.283 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6378001-6378746 Neighboring gene ATP synthase membrane subunit f pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4158 Neighboring gene Sharpr-MPRA regulatory region 10601 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6390295-6390794 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:6402555-6402765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:6404819-6405319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6418662-6419382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6427837-6428456 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6432098-6432639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6433181-6433722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6433723-6434262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6443488-6444358 Neighboring gene TNF receptor superfamily member 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6446101-6446970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5850 Neighboring gene RNA, 7SL, cytoplasmic 391, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. O'Neill AC, et al. Cell Rep, 2018 Dec 4. PMID 30517861
    2. Intramolecular interactions between the Dbl homology (DH) domain and the carboxyl-terminal region of myosin II-interacting guanine nucleotide exchange factor (MyoGEF) act as an autoinhibitory mechanism for the regulation of MyoGEF functions. Wu D, et al. J Biol Chem, 2014 Dec 5. PMID 25336641, Free PMC Article
    3. Genetic Predisposition to Colon and Rectal Adenocarcinoma Is Mediated by a Super-enhancer Polymorphism Coactivating CD9 and PLEKHG6. Ke J, et al. Cancer Epidemiol Biomarkers Prev, 2020 Apr. PMID 31988071
    4. Myosin II-interacting guanine nucleotide exchange factor promotes bleb retraction via stimulating cortex reassembly at the bleb membrane. Jiao M, et al. Mol Biol Cell, 2018 Mar 1. PMID 29321250, Free PMC Article
    5. Phosphorylation of MyoGEF on Thr-574 by Plk1 promotes MyoGEF localization to the central spindle. Asiedu M, et al. J Biol Chem, 2008 Oct 17. PMID 18694934, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Predisposition to Colon and Rectal Adenocarcinoma Is Mediated by a Super-enhancer Polymorphism Coactivating CD9 and PLEKHG6.
      Title: Genetic Predisposition to Colon and Rectal Adenocarcinoma Is Mediated by a Super-enhancer Polymorphism Coactivating CD9 and PLEKHG6.
    2. PLEKHG6 isoform is an example of a primate-specific genomic element supporting brain development.
      Title: A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
    3. Ezrin interacts with MYOGEF and recruits it to retracting blebs, where MYOGEF activates RhoA and promotes the reassembly of the cortical actomyosin network at the bleb membrane, thus contributing to the regulation of bleb retraction.
      Title: Myosin II-interacting guanine nucleotide exchange factor promotes bleb retraction via stimulating cortex reassembly at the bleb membrane.
    4. Intramolecular interactions between MyoGEF domains act as an autoinhibitory mechanism for the regulation of MyoGEF functions.
      Title: Intramolecular interactions between the Dbl homology (DH) domain and the carboxyl-terminal region of myosin II-interacting guanine nucleotide exchange factor (MyoGEF) act as an autoinhibitory mechanism for the regulation of MyoGEF functions.
    5. Taken together, these results suggest that aurora B coordinates with Plk1 to regulate MyoGEF activation and localization, thus contributing to the regulation of cytokinesis.
      Title: Phosphorylation of myosin II-interacting guanine nucleotide exchange factor (MyoGEF) at threonine 544 by aurora B kinase promotes the binding of polo-like kinase 1 to MyoGEF.
    6. GIPC1-MyoGEF complex formation plays an important role in regulating MDA-MB-231 breast cancer cell polarization and invasion.
      Title: GIPC1 interacts with MyoGEF and promotes MDA-MB-231 breast cancer cell invasion.
    7. MyoGEF cooperates with nonmuscle myosin IIA to regulate the polarity and invasion activity of breast cancer cells through activation of RhoA and RhoC.
      Title: Myosin-interacting guanine exchange factor (MyoGEF) regulates the invasion activity of MDA-MB-231 breast cancer cells through activation of RhoA and RhoC.
    8. Plk1 can regulate MyoGEF activity and localization, contributing to the regulation of cytokinesis
      Title: Phosphorylation of MyoGEF on Thr-574 by Plk1 promotes MyoGEF localization to the central spindle.
    9. ezrin allows the local activation of RhoG at the apical pole of epithelial cells by recruiting upstream and downstream regulators of RhoG and that both PLEKHG6 and ezrin are required for efficient macropinocytosis
      Title: Interaction of ezrin with the novel guanine nucleotide exchange factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton rearrangements in epithelial cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10665, MGC126315, MGC126353, MGC126354

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family G member 6
    Names
    PH domain-containing family G member 6
    myosin II interacting GEF
    myosin interacting guanine nucleotide exchange factor
    pleckstrin homology domain containing, family G (with RhoGef domain) member 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001144856.2 → NP_001138328.1  pleckstrin homology domain-containing family G member 6 isoform a

      See identical proteins and their annotated locations for NP_001138328.1

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Consensus CDS
      CCDS8541.1
      UniProtKB/Swiss-Prot
      Q3KR16, Q3SWR1, Q8N1P1, Q8WYY1, Q9H8F4, Q9NVK9
      UniProtKB/TrEMBL
      A0A2X0TW08
      Related
      ENSP00000380185.3, ENST00000396988.7
      Conserved Domains (2) summary
      cd13244
      Location:408 → 506
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:165 → 351
      RhoGEF; RhoGEF domain

    2. NM_001144857.2 → NP_001138329.2  pleckstrin homology domain-containing family G member 6 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Related
      ENSP00000393194.2, ENST00000449001.6
      Conserved Domains (2) summary
      smart00325
      Location:51 → 237
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:294 → 392
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

    3. NM_001384598.1 → NP_001371527.1  pleckstrin homology domain-containing family G member 6 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Consensus CDS
      CCDS8541.1
      UniProtKB/Swiss-Prot
      Q3KR16, Q3SWR1, Q8N1P1, Q8WYY1, Q9H8F4, Q9NVK9
      UniProtKB/TrEMBL
      A0A2X0TW08
      Related
      ENSP00000506982.1, ENST00000684764.1
      Conserved Domains (2) summary
      cd13244
      Location:408 → 506
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:165 → 351
      RhoGEF; RhoGEF domain

    4. NM_001384599.1 → NP_001371528.1  pleckstrin homology domain-containing family G member 6 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Conserved Domains (2) summary
      cd13244
      Location:407 → 505
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:164 → 350
      RhoGEF; RhoGEF domain

    5. NM_001384600.1 → NP_001371529.1  pleckstrin homology domain-containing family G member 6 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Conserved Domains (2) summary
      cd13244
      Location:386 → 484
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:143 → 329
      RhoGEF; RhoGEF domain

    6. NM_001384601.1 → NP_001371530.1  pleckstrin homology domain-containing family G member 6 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Conserved Domains (2) summary
      pfam00621
      Location:165 → 367
      RhoGEF; RhoGEF domain
      cl17171
      Location:424 → 490
      PH-like; Pleckstrin homology-like domain

    7. NM_001384602.1 → NP_001371531.1  pleckstrin homology domain-containing family G member 6 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Consensus CDS
      CCDS91644.1
      UniProtKB/TrEMBL
      F5H731
      Related
      ENSP00000442836.1, ENST00000536531.5
      Conserved Domains (2) summary
      pfam00621
      Location:165 → 351
      RhoGEF; RhoGEF domain
      cl17171
      Location:408 → 474
      PH-like; Pleckstrin homology-like domain

    8. NM_001384603.1 → NP_001371532.1  pleckstrin homology domain-containing family G member 6 isoform h

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Conserved Domains (2) summary
      pfam00621
      Location:143 → 329
      RhoGEF; RhoGEF domain
      cl17171
      Location:386 → 452
      PH-like; Pleckstrin homology-like domain

    9. NM_001384604.1 → NP_001371533.1  pleckstrin homology domain-containing family G member 6 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Conserved Domains (2) summary
      cd13244
      Location:424 → 522
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:165 → 367
      RhoGEF; RhoGEF domain

    10. NM_018173.4 → NP_060643.2  pleckstrin homology domain-containing family G member 6 isoform a

      See identical proteins and their annotated locations for NP_060643.2

      Status: VALIDATED

      Source sequence(s)
      AC006057
      Consensus CDS
      CCDS8541.1
      UniProtKB/Swiss-Prot
      Q3KR16, Q3SWR1, Q8N1P1, Q8WYY1, Q9H8F4, Q9NVK9
      UniProtKB/TrEMBL
      A0A2X0TW08
      Related
      ENSP00000011684.7, ENST00000011684.11
      Conserved Domains (2) summary
      cd13244
      Location:408 → 506
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:165 → 351
      RhoGEF; RhoGEF domain

    RNA

    1. NR_169277.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006057

    2. NR_169278.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006057

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6310332..6328506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429069.1 → XP_047285025.1  pleckstrin homology domain-containing family G member 6 isoform X1

    2. XM_047429070.1 → XP_047285026.1  pleckstrin homology domain-containing family G member 6 isoform X2

    3. XM_006718985.4 → XP_006719048.1  pleckstrin homology domain-containing family G member 6 isoform X1

      Conserved Domains (3) summary
      cd13244
      Location:394 → 492
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00169
      Location:396 → 493
      PH; PH domain
      pfam00621
      Location:165 → 339
      RhoGEF; RhoGEF domain

    4. XM_047429071.1 → XP_047285027.1  pleckstrin homology domain-containing family G member 6 isoform X3

    5. XM_011520967.3 → XP_011519269.1  pleckstrin homology domain-containing family G member 6 isoform X2

      Conserved Domains (2) summary
      cd13244
      Location:386 → 484
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      pfam00621
      Location:143 → 329
      RhoGEF; RhoGEF domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6319720..6337898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372407.1 → XP_054228382.1  pleckstrin homology domain-containing family G member 6 isoform X1

    2. XM_054372408.1 → XP_054228383.1  pleckstrin homology domain-containing family G member 6 isoform X2

    3. XM_054372406.1 → XP_054228381.1  pleckstrin homology domain-containing family G member 6 isoform X1

    4. XM_054372410.1 → XP_054228385.1  pleckstrin homology domain-containing family G member 6 isoform X3

    5. XM_054372409.1 → XP_054228384.1  pleckstrin homology domain-containing family G member 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KR16.3 GenPept UniProtKB/Swiss-Prot:Q3KR16

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