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Aliases for PLEKHG5 Gene

Aliases for PLEKHG5 Gene

  • 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
  • KIAA0720 4 6
  • CMTRIC 3 6
  • GEF720 3 4
  • DSMA4 3 6
  • Pleckstrin Homology Domain Containing Family G Member 5 3
  • Pleckstrin Homology Domain-Containing Family G Member 5 3
  • Novel PH Domain-Containing Protein 3
  • NFKB Activating Protein 3
  • Tech 3
  • Syx 3

External Ids for PLEKHG5 Gene

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 Domain Containing, Family G (With RhoGef Domain) Member 5) is a Protein Coding gene. Diseases associated with PLEKHG5 include autosomal recessive lower motor neuron disease with childhood onset and autosomal recessive intermediate charcot-marie-tooth disease type c. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG6.

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

Genomic Location for PLEKHG5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLEKHG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG5 Gene

Regulatory Elements for PLEKHG5 Gene

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

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 for PLEKHG5 Gene

Gene Families for PLEKHG5 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for PLEKHG5 Gene

UniProtKB/Swiss-Prot:

PKHG5_HUMAN
Domain:
  • Contains 1 DH (DBL-homology) domain.:
    • O94827
  • Contains 1 PH domain.:
    • O94827
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.

Gene Ontology (GO) - Molecular Function for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IMP 12761501
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with PLEKHG5: view
genes like me logo Genes that share phenotypes with PLEKHG5: view

Animal Models for PLEKHG5 Gene

MGI Knock Outs for PLEKHG5:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PLEKHG5 Gene

Localization for PLEKHG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHG5 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell junction. Cell projection, lamellipodium. Note=Predominantly cytoplasmic, however when cells are stimulated found in perinuclear regions. Localized at cell-cell junctions in quiescent endothelial cells, it relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHG5 Gene COMPARTMENTS Subcellular localization image for PLEKHG5 gene
Compartment Confidence
cytosol 4
plasma membrane 2
nucleus 1

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 ISS --
GO:0030027 lamellipodium ISS --
genes like me logo Genes that share ontologies with PLEKHG5: view

Pathways for PLEKHG5 Gene

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

Interacting Proteins for PLEKHG5 Gene

Gene Ontology (GO) - Biological Process for PLEKHG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0035023 regulation of Rho protein signal transduction --
GO:0035767 endothelial cell chemotaxis ISS --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
genes like me logo Genes that share ontologies with PLEKHG5: view

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 (6.6), Brain - Cerebellar Hemisphere (6.0), and Skin - Not Sun Exposed (Suprapubic) (4.4).

Integrated Proteomics: protein expression 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 expressions 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 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHG5 36
  • 88.32 (n)
  • 89.27 (a)
PLEKHG5 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG5 36
  • 88.19 (n)
  • 88.71 (a)
PLEKHG5 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhg5 36
  • 84.28 (n)
  • 86.57 (a)
Plekhg5 16
Plekhg5 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 73 (a)
OneToMany
-- 37
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG5 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg5 36
  • 84.28 (n)
  • 86.35 (a)
chicken
(Gallus gallus)
Aves PLEKHG5 36
  • 74.63 (n)
  • 73.31 (a)
PLEKHG5 37
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg5 36
  • 66.16 (n)
  • 70.8 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01057013.1 37
  • 46 (a)
OneToMany
LOC796404 36
  • 63.52 (n)
  • 58.28 (a)
plekhg5a 37
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42674 37
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhgf-2 37
  • 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

Selected 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 MAF
rs730600 -- 6,469,383(+) TGGCC(A/G)CTGGC synonymous-codon, reference
rs737243 -- 6,504,096(-) AGGTC(A/G)TTTAG intron-variant
rs943584 -- 6,469,688(+) TGGCA(G/T)GAGGG intron-variant
rs943585 -- 6,484,316(-) GCAGC(C/T)GGAGG intron-variant
rs943586 -- 6,484,201(-) AGTCC(A/G)TATTT 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

Relevant External Links for PLEKHG5 Gene

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

Disorders for PLEKHG5 Gene

(2) OMIM Diseases for PLEKHG5 Gene (611101)

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.

Relevant External Links for PLEKHG5

Genetic Association Database (GAD)
PLEKHG5
Human Genome Epidemiology (HuGE) Navigator
PLEKHG5
genes like me logo Genes that share disorders with PLEKHG5: view

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
  2. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PMID: 19305408) Newton-Cheh C. … Stricker B.H. (Nat. Genet. 2009) 3 49
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 49
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 3 4

Products for PLEKHG5 Gene

Sources for PLEKHG5 Gene

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