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    PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 [ Homo sapiens (human) ]

    Gene ID: 57449, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLEKHG5provided by HGNC
    Official Full Name
    pleckstrin homology and RhoGEF domain containing G5provided by HGNC
    Primary source
    HGNC:HGNC:29105
    See related
    Ensembl:ENSG00000171680 MIM:611101; AllianceGenome:HGNC:29105
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Syx; Tech; DSMA4; HMNR4; CMTRIC; GEF720; ARHGEF45
    Summary
    This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
    Expression
    Broad expression in skin (RPKM 31.5), spleen (RPKM 14.2) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHG5 in Genome Data Viewer
    Location:
    1p36.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6467122..6520092, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (5992764..6045736, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6527182..6580152, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6499737-6500250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 155 Neighboring gene microRNA 4252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6501479-6501980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6501981-6502480 Neighboring gene espin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6503341-6503883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6506945-6507603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6507628-6508502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6509377-6510250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6512972-6513929 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6518900-6519106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6526054-6527002 Neighboring gene TNF receptor superfamily member 25 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6534424-6534945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6534946-6535466 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:6536823-6538022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 160 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:6555381-6556136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6562565-6563294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6566857-6567357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6571620-6572434 Neighboring gene MPRA-validated peak31 silencer Neighboring gene Sharpr-MPRA regulatory region 8211 Neighboring gene Sharpr-MPRA regulatory region 5048 Neighboring gene nucleolar protein 9 Neighboring gene RNA, U6 small nuclear 731, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6612384-6612884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 162 Neighboring gene uncharacterized LOC107984912 Neighboring gene taste 1 receptor member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6639438-6640137

    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. Characterization and computational simulation of human Syx, a RhoGEF implicated in glioblastoma. Boyd RJ, et al. FASEB J, 2022 Jul. PMID 35639414, Free PMC Article
    2. The gene for a new brain specific RhoA exchange factor maps to the highly unstable chromosomal region 1p36.2-1p36.3. De Toledo M, et al. Oncogene, 2001 Nov 1. PMID 11704860
    3. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. Chen Z, et al. Eur J Neurol, 2021 Apr. PMID 33220101
    4. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Maystadt I, et al. Am J Hum Genet, 2007 Jul. PMID 17564964, Free PMC Article
    5. PLEKHG5 is a novel prognostic biomarker in glioma patients. Qian M, et al. Int J Clin Oncol, 2019 Nov. PMID 31309383

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization and computational simulation of human Syx, a RhoGEF implicated in glioblastoma.
      Title: Characterization and computational simulation of human Syx, a RhoGEF implicated in glioblastoma.
    2. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
      Title: Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
    3. PLEKHG5 regulates autophagy, survival and MGMT expression in U251-MG glioblastoma cells.
      Title: PLEKHG5 regulates autophagy, survival and MGMT expression in U251-MG glioblastoma cells.
    4. PLEKHG5 promoted glioma cell migration and invasion.The expression patterns of PLEKHG5 are related to the glioma patients' survival.
      Title: PLEKHG5 is a novel prognostic biomarker in glioma patients.
    5. Results indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes Charcot-Marie-Tooth disease or lower motor neuron disease affecting the function of neurons and glial cells.
      Title: PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
    6. Recruitment of Syx to the cell membrane, the selective activation of Dia1 signaling, coupled with the suppression of ROCK and actin reorganization, plays a key role in establishing cell polarity during directed cell migration.
      Title: The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration.
    7. This study identifies compound heterozygous PLEKHG5 mutations as the cause of recessive intermediate Charcot-Marie-Tooth disease.
      Title: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
    8. a novel means of regulating junctional Syx localization and function by phosphorylation-induced 14-3-3 binding and further support the importance of Syx function in maintaining stable cell-cell contacts.
      Title: Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    10. We identified a homozygous missense mutation (c.1940 T-->C [p.647 Phe-->Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, in families with lower motor neuron disease.
      Title: The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
    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

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease recessive intermediate C
    MedGen: C3809309 OMIM: 615376 GeneReviews: Not available
    		not available
    Neuronopathy, distal hereditary motor, autosomal recessive 4
    MedGen: C1970211 OMIM: 611067 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0720

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endothelial cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endothelial cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family G member 5
    Names
    NFkB activating protein
    PH domain-containing family G member 5
    guanine nucleotide exchange factor 720
    novel PH domain-containing protein
    pleckstrin homology domain containing, family G (with RhoGef domain) member 5
    synectin-binding guanine exchange factor

    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.

    Genomic

    1. NG_007978.1 RefSeqGene

      Range
      4949..58918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_262

    mRNA and Protein(s)

    1. NM_001042663.3 → NP_001036128.2  pleckstrin homology domain-containing family G member 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AB018263, DA915753
      Consensus CDS
      CCDS41241.2
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000383706.4, ENST00000400915.8
      Conserved Domains (3) summary
      smart00325
      Location:377 → 564
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:620 → 718
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      cd17068
      Location:111 → 184
      RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

    2. NM_001042664.2 → NP_001036129.1  pleckstrin homology domain-containing family G member 5 isoform a

      See identical proteins and their annotated locations for NP_001036129.1

      Status: REVIEWED

      Source sequence(s)
      AL158217
      Consensus CDS
      CCDS79.1
      UniProtKB/Swiss-Prot
      B3KU07, B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, O94827, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000344570.5, ENST00000340850.10
      Conserved Domains (3) summary
      smart00325
      Location:340 → 527
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:583 → 681
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      cd17068
      Location:74 → 147
      RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

    3. NM_001042665.2 → NP_001036130.1  pleckstrin homology domain-containing family G member 5 isoform a

      See identical proteins and their annotated locations for NP_001036130.1

      Status: REVIEWED

      Source sequence(s)
      AL158217
      Consensus CDS
      CCDS79.1
      UniProtKB/Swiss-Prot
      B3KU07, B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, O94827, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000383704.1, ENST00000400913.6
      Conserved Domains (3) summary
      smart00325
      Location:340 → 527
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:583 → 681
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      cd17068
      Location:74 → 147
      RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

    4. NM_001265592.2 → NP_001252521.2  pleckstrin homology domain-containing family G member 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AK294875, AL158217, BC042606
      Consensus CDS
      CCDS41241.2
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000439625.2, ENST00000537245.6
      Conserved Domains (3) summary
      smart00325
      Location:377 → 564
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:620 → 718
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      cd17068
      Location:111 → 184
      RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

    5. NM_001265593.2 → NP_001252522.1  pleckstrin homology domain-containing family G member 5 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL158217
      Consensus CDS
      CCDS57968.1
      UniProtKB/TrEMBL
      A0A7I2PMD6, A0A804EMX3
      Related
      ENSP00000441445.1, ENST00000535355.6
      Conserved Domains (2) summary
      smart00325
      Location:409 → 596
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:652 → 750
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

    6. NM_001265594.3 → NP_001252523.1  pleckstrin homology domain-containing family G member 5 isoform f

      See identical proteins and their annotated locations for NP_001252523.1

      Status: REVIEWED

      Source sequence(s)
      AL158217
      Consensus CDS
      CCDS57967.1
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000366954.1, ENST00000377725.5
      Conserved Domains (2) summary
      smart00325
      Location:340 → 527
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:583 → 681
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

    7. NM_020631.6 → NP_065682.2  pleckstrin homology domain-containing family G member 5 isoform a

      See identical proteins and their annotated locations for NP_065682.2

      Status: REVIEWED

      Source sequence(s)
      AK024676, AL158217
      Consensus CDS
      CCDS79.1
      UniProtKB/Swiss-Prot
      B3KU07, B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, O94827, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000366957.3, ENST00000377728.8
      Conserved Domains (3) summary
      smart00325
      Location:340 → 527
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:583 → 681
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      cd17068
      Location:74 → 147
      RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

    8. NM_198681.4 → NP_941374.3  pleckstrin homology domain-containing family G member 5 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL158217, AL591866
      Consensus CDS
      CCDS79.1
      UniProtKB/Swiss-Prot
      B3KU07, B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, O94827, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
      UniProtKB/TrEMBL
      A0A7I2PMD6
      Related
      ENSP00000366969.4, ENST00000377740.5
      Conserved Domains (3) summary
      smart00325
      Location:340 → 527
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13244
      Location:583 → 681
      PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
      cd17068
      Location:74 → 147
      RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      6467122..6520092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      5992764..6045736 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94827.4 GenPept UniProtKB/Swiss-Prot:O94827

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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