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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
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Genomic context

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See PLEKHG6 in Genome Data Viewer
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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