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] See more...

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
  • Pleckstrin Homology Domain-Containing Family G Member 5 3 4
  • 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
  • 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
  • GC01M006526
  • 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 Charcot-Marie-Tooth Disease, Recessive Intermediate C and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG7.

UniProtKB/Swiss-Prot Summary for PLEKHG5 Gene

  • Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631).

Additional gene information for PLEKHG5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG5 Gene

Genomics for PLEKHG5 Gene

GeneHancer (GH) Regulatory Elements for PLEKHG5 Gene

Promoters and enhancers for PLEKHG5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J006487 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 549.3 +29.5 29503 6 HNRNPK ZBTB40 CTCF NRF1 POLR2G SP1 NCOR1 BCLAF1 RBAK JUND PLEKHG5 TNFRSF25 KLHL21 PHF13 THAP3 ESPN lnc-ESPN-4 RF00017-021
GH01J006485 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 531.4 +34.2 34161 3 CTCF MYC ZBTB10 TARDBP SAP30 RFX1 REST ZBTB25 TGIF2 CTBP1 PLEKHG5 lnc-ESPN-4 ESPN THAP3 RF00017-021
GH01J006497 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +22.9 22860 2.4 ZBTB40 ZIC2 ZBTB10 ZNF423 ZBTB26 RFX1 EZH2 HDAC2 MXI1 ZNF341 PLEKHG5 TNFRSF25 ESPN lnc-ESPN-4 RF00017-021
GH01J006516 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 517.4 -0.4 -433 7 CTCF MYC USF1 PHB2 TEAD4 ZIC2 GABPA SAP30 RFX1 REST PLEKHG5 CAMTA1-DT THAP3 LOC102724450 KLHL21 PHF13 piR-57460-004 NOL9
GH01J006553 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.5 -34.3 -34272 3.1 HNRNPK ZNF217 CTCF SIN3A TCF12 POLR2G SP1 GTF2E2 PHF8 PHB2 NOL9 TAS1R1 lnc-PLEKHG5-3 THAP3 ZBTB48 PHF13 PLEKHG5 piR-32214-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG5

Top Transcription factor binding sites by QIAGEN in the PLEKHG5 gene promoter:
  • AP-1

Genomic Locations for PLEKHG5 Gene

Genomic Locations for PLEKHG5 Gene
chr1:6,466,092-6,520,061
(GRCh38/hg38)
Size:
53,970 bases
Orientation:
Minus strand
chr1:6,526,152-6,580,121
(GRCh37/hg19)
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=Extended N-terminus.; 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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PLEKHG5 Gene

Blocks:
  • DH domain
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHG5 Gene

GenScript: Design optimal peptide antigens:
  • Guanine nucleotide exchange factor 720 (PKHG5_HUMAN)
genes like me logo Genes that share domains with PLEKHG5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG5 Gene

Function for PLEKHG5 Gene

Molecular function for PLEKHG5 Gene

UniProtKB/Swiss-Prot Function:
Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631).

Phenotypes From GWAS Catalog for PLEKHG5 Gene

Gene Ontology (GO) - Molecular Function for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with PLEKHG5: view
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

miRNA for PLEKHG5 Gene

miRTarBase miRNAs that target PLEKHG5

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHG5 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005911 cell-cell junction IEA,ISS --
GO:0016020 membrane 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

Gene Ontology (GO) - Biological Process for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035767 endothelial cell chemotaxis IEA,ISS --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP 12761501
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

mRNA/cDNA for PLEKHG5 Gene

8 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for PLEKHG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for PLEKHG5 Gene



Protein tissue co-expression partners for PLEKHG5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG5

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.

Evidence on tissue expression from TISSUES for PLEKHG5 Gene

  • Nervous system(4.8)
  • Skin(4.3)
  • Spleen(4.3)
  • Lung(4.1)
  • Pancreas(4.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PLEKHG5: view

Orthologs for PLEKHG5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHG5 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHG5 31 30
  • 88.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG5 31 30
  • 88.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhg5 17 31 30
  • 84.28 (n)
rat
(Rattus norvegicus)
Mammalia Plekhg5 30
  • 84.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG5 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 75 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves PLEKHG5 31 30
  • 74.63 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg5 30
  • 66.16 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796404 30
  • 63.52 (n)
plekhg5a 31
  • 46 (a)
OneToMany
CABZ01057013.1 31
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42674 31
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhgf-2 31
  • 18 (a)
OneToMany
Species where no ortholog for PLEKHG5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG5: view image

Paralogs for PLEKHG5 Gene

Paralogs for PLEKHG5 Gene

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

  • PKHG5_HUMAN
  • Q5SY18_HUMAN
genes like me logo Genes that share paralogs with PLEKHG5: view

Variants for PLEKHG5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
565532 Uncertain Significance: Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 6,471,505(-) G/A MISSENSE_VARIANT
566096 Pathogenic: Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 6,468,294(-) G/A NONSENSE
566688 Uncertain Significance: Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 6,476,033(-) G/C MISSENSE_VARIANT
567417 Uncertain Significance: Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 6,470,758(-) C/T MISSENSE_VARIANT
568223 Uncertain Significance: Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 6,470,767(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PLEKHG5 Gene

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

Variant ID Type Subtype PubMed ID
dgv2n27 CNV loss 19166990
dgv80n54 CNV loss 21841781
esv3540122 CNV deletion 23714750
nsv1009548 CNV loss 25217958
nsv1119662 CNV deletion 24896259
nsv1187 CNV insertion 18451855
nsv462061 CNV loss 19166990
nsv470690 CNV gain 18288195
nsv470691 CNV loss 18288195
nsv473388 CNV novel sequence insertion 20440878
nsv508836 CNV insertion 20534489
nsv545240 CNV loss 21841781
nsv545264 CNV loss 21841781
nsv545265 CNV loss 21841781
nsv545266 CNV loss 21841781
nsv545267 CNV loss 21841781
nsv545268 CNV loss 21841781
nsv7880 CNV gain+loss 18304495
nsv831536 CNV loss 17160897
nsv954048 CNV deletion 24416366

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)

Additional Variant Information for PLEKHG5 Gene

Human Gene Mutation Database (HGMD)
PLEKHG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG5

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

Disorders for PLEKHG5 Gene

MalaCards: The human disease database

(22) MalaCards diseases for PLEKHG5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PKHG5_HUMAN
  • 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.
  • 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.

Additional Disease Information for PLEKHG5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (American journal of human genetics 2007) 2 3 4 54
  2. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. (PMID: 23777631) Azzedine H … Chrast R (Human molecular genetics 2013) 3 4 54
  3. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. (PMID: 23844677) Kim HJ … Choi BO (Orphanet journal of rare diseases 2013) 3 4 54
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41 54
  5. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PMID: 19305408) Newton-Cheh C … Stricker BH (Nature genetics 2009) 3 41 54

Products for PLEKHG5 Gene

Sources for PLEKHG5 Gene