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

Gene ID: 57449, updated on 5-Mar-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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Location:
1p36.31
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6467122..6520092, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (5992764..6045736, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6526152..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. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. Chen Z, et al. Eur J Neurol, 2021 Apr. PMID 33220101
  3. PLEKHG5 is a novel prognostic biomarker in glioma patients. Qian M, et al. Int J Clin Oncol, 2019 Nov. PMID 31309383
  4. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Kim HJ, et al. Orphanet J Rare Dis, 2013 Jul 12. PMID 23844677, Free PMC Article
  5. 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

See all (31) 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
Compare labs
Neuronopathy, distal hereditary motor, autosomal recessive 4
MedGen: C1970211 OMIM: 611067 GeneReviews: Not available
Compare labs

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)

Genotypes

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
  
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_2023_10

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

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