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Aliases for PLEKHG5 Gene

Aliases for PLEKHG5 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G5 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 5 2 3
  • Synectin-Binding Guanine Exchange Factor 2 3
  • Guanine Nucleotide Exchange Factor 720 3 4
  • PH Domain-Containing Family G Member 5 3 4
  • GEF720 3 4
  • Pleckstrin Homology Domain Containing Family G Member 5 3
  • Novel PH Domain-Containing Protein 3
  • NFKB Activating Protein 3
  • KIAA0720 4
  • CMTRIC 3
  • DSMA4 3
  • Tech 3
  • Syx 3

External Ids for PLEKHG5 Gene

Previous GeneCards Identifiers for PLEKHG5 Gene

  • GC01M006462
  • GC01M005673

Summaries for PLEKHG5 Gene

Entrez Gene Summary for PLEKHG5 Gene

  • 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]

GeneCards Summary for PLEKHG5 Gene

PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5) is a Protein Coding gene. Diseases associated with PLEKHG5 include spinal muscular atrophy, distal, autosomal recessive, 4 and charcot-marie-tooth disease, recessive intermediate c. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include signal transducer activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG7.

UniProtKB/Swiss-Prot for PLEKHG5 Gene

  • Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHG5 Gene

Genomics for PLEKHG5 Gene

Regulatory Elements for PLEKHG5 Gene

Transcription factor binding sites by QIAGEN in the PLEKHG5 gene promoter:

Genomic Location for PLEKHG5 Gene

Chromosome:
1
Start:
6,466,092 bp from pter
End:
6,520,061 bp from pter
Size:
53,970 bases
Orientation:
Minus strand

Genomic View for PLEKHG5 Gene

Genes around PLEKHG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG5 Gene

Proteins for PLEKHG5 Gene

  • Protein details for PLEKHG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94827-PKHG5_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family G member 5
    Protein Accession:
    O94827
    Secondary Accessions:
    • B3KU07
    • B7Z2M3
    • B7Z5X2
    • F5GZ21
    • F5H1I0
    • Q5SY17
    • Q5T8W5
    • Q5T8W9
    • Q6ZNM0
    • Q7Z436
    • Q86YD8
    • Q96BS1

    Protein attributes for PLEKHG5 Gene

    Size:
    1062 amino acids
    Molecular mass:
    117451 Da
    Quaternary structure:
    • Interacts with GIPC1/synectin and RHOA.
    SequenceCaution:
    • Sequence=BAA34440.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC77354.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC85124.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHG5 Gene

neXtProt entry for PLEKHG5 Gene

Proteomics data for PLEKHG5 Gene at MOPED

Post-translational modifications for PLEKHG5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHG5 Gene

Domains & Families for PLEKHG5 Gene

Gene Families for PLEKHG5 Gene

Protein Domains for PLEKHG5 Gene

Suggested Antigen Peptide Sequences for PLEKHG5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94827

UniProtKB/Swiss-Prot:

PKHG5_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
Domain:
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with PLEKHG5: view

Function for PLEKHG5 Gene

Molecular function for PLEKHG5 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis.
genes like me logo Genes that share phenotypes with PLEKHG5: view

Human Phenotype Ontology for PLEKHG5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLEKHG5 Gene

MGI Knock Outs for PLEKHG5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PLEKHG5 Gene

Localization for PLEKHG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHG5 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell membrane. Cell junction. Cell projection, lamellipodium. Note=Predominantly cytoplasmic, however when endothelial cells are stimulated with lysophosphatidic acid, PLEKHG5 is found in perinuclear regions and at the cell membrane. Localizes at cell-cell junctions in quiescent endothelial cells, and relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells. {ECO:0000250 UniProtKB:Q66T02}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHG5 Gene COMPARTMENTS Subcellular localization image for PLEKHG5 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 1

Gene Ontology (GO) - Cellular Components for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IEA,ISS --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PLEKHG5: view

Pathways & Interactions for PLEKHG5 Gene

genes like me logo Genes that share pathways with PLEKHG5: view

Pathways by source for PLEKHG5 Gene

Interacting Proteins for PLEKHG5 Gene

Gene Ontology (GO) - Biological Process for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035767 endothelial cell chemotaxis IEA,ISS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with PLEKHG5: view

No data available for SIGNOR curated interactions for PLEKHG5 Gene

Drugs & Compounds for PLEKHG5 Gene

No Compound Related Data Available

Transcripts for PLEKHG5 Gene

Unigene Clusters for PLEKHG5 Gene

Pleckstrin homology domain containing, family G (with RhoGef domain) member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13: - - -
SP14: -
SP15: - -
SP16: -
SP17:

Relevant External Links for PLEKHG5 Gene

GeneLoc Exon Structure for
PLEKHG5
ECgene alternative splicing isoforms for
PLEKHG5

Expression for PLEKHG5 Gene

mRNA expression in normal human tissues for PLEKHG5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHG5 Gene

This gene is overexpressed in Brain - Cerebellum (x6.6), Brain - Cerebellar Hemisphere (x6.0), and Skin - Not Sun Exposed (Suprapubic) (x4.4).

Protein differential expression in normal tissues from HIPED for PLEKHG5 Gene

This gene is overexpressed in Placenta (68.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHG5 Gene



SOURCE GeneReport for Unigene cluster for PLEKHG5 Gene Hs.284232

mRNA Expression by UniProt/SwissProt for PLEKHG5 Gene

O94827-PKHG5_HUMAN
Tissue specificity: Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (GBM) cell lines.
genes like me logo Genes that share expression patterns with PLEKHG5: view

Protein tissue co-expression partners for PLEKHG5 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PLEKHG5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLEKHG5 35
  • 88.32 (n)
  • 89.27 (a)
PLEKHG5 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG5 35
  • 88.19 (n)
  • 88.71 (a)
PLEKHG5 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhg5 35
  • 84.28 (n)
  • 86.57 (a)
Plekhg5 16
Plekhg5 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg5 35
  • 84.28 (n)
  • 86.35 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG5 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLEKHG5 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHG5 35
  • 74.63 (n)
  • 73.31 (a)
PLEKHG5 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg5 35
  • 66.16 (n)
  • 70.8 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC796404 35
  • 63.52 (n)
  • 58.28 (a)
CABZ01057013.1 36
  • 46 (a)
OneToMany
plekhg5a 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42674 36
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhgf-2 36
  • 18 (a)
OneToMany
Species with no ortholog for PLEKHG5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHG5 Gene

ENSEMBL:
Gene Tree for PLEKHG5 (if available)
TreeFam:
Gene Tree for PLEKHG5 (if available)

Paralogs for PLEKHG5 Gene

Paralogs for PLEKHG5 Gene

(2) SIMAP similar genes for PLEKHG5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PLEKHG5: view

Variants for PLEKHG5 Gene

Sequence variations from dbSNP and Humsavar for PLEKHG5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035357 Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)
VAR_070217 Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)
VAR_070218 Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)
rs730600 -- 6,469,383(+) TGGCC(A/G)CTGGC reference, synonymous-codon
rs737243 -- 6,504,096(-) AGGTC(A/G)TTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG5 Gene

Variant ID Type Subtype PubMed ID
nsv871698 CNV Loss 21882294
dgv119n71 CNV Loss 21882294
dgv122n71 CNV Loss 21882294
dgv125n71 CNV Loss 21882294
dgv2n27 CNV Loss 19166990
nsv508836 CNV Insertion 20534489
nsv871719 CNV Loss 21882294
nsv7880 CNV Gain+Loss 18304495
nsv831536 CNV Loss 17160897
nsv470690 CNV Gain 18288195
nsv870465 CNV Loss 21882294
dgv126n71 CNV Loss 21882294
dgv127n71 CNV Loss 21882294
nsv470691 CNV Loss 18288195
dgv128n71 CNV Loss 21882294
nsv870716 CNV Loss 21882294
nsv462061 CNV Loss 19166990
nsv1187 CNV Insertion 18451855

Variation tolerance for PLEKHG5 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.88; 89.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHG5 Gene

HapMap Linkage Disequilibrium report
PLEKHG5
Human Gene Mutation Database (HGMD)
PLEKHG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG5 Gene

Disorders for PLEKHG5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PLEKHG5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 4
  • dsma4
charcot-marie-tooth disease, recessive intermediate c
  • charcot-marie-tooth disease, recessive, intermediate type, c
autosomal recessive lower motor neuron disease with childhood onset
  • spinal muscular atrophy, distal, autosomal recessive, 4
autosomal recessive intermediate charcot-marie-tooth disease type c
  • ri-cmt type c
distal spinal muscular atrophy 4
  • spinal muscular atrophy, distal, autosomal recessive, 4
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PKHG5_HUMAN
  • Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:23777631, ECO:0000269 PubMed:23844677}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. {ECO:0000269 PubMed:17564964}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PLEKHG5

Genetic Association Database (GAD)
PLEKHG5
Human Genome Epidemiology (HuGE) Navigator
PLEKHG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHG5
genes like me logo Genes that share disorders with PLEKHG5: view

No data available for Genatlas for PLEKHG5 Gene

Publications for PLEKHG5 Gene

  1. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. (PMID: 17564964) Maystadt I. … Verellen-Dumoulin C. (Am. J. Hum. Genet. 2007) 2 3 4 67
  2. Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx. (PMID: 23335514) Ngok S.P. … Anastasiadis P.Z. (J. Biol. Chem. 2013) 3
  3. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. (PMID: 23777631) Azzedine H. … Chrast R. (Hum. Mol. Genet. 2013) 3
  4. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. (PMID: 23844677) Kim H.J. … Choi B.O. (Orphanet J Rare Dis 2013) 3
  5. The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration. (PMID: 24126053) Dachsel J.C. … Anastasiadis P.Z. (Mol. Cell. Biol. 2013) 3

Products for PLEKHG5 Gene

Sources for PLEKHG5 Gene

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