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
External Ids for PLEKHG5 Gene
- HGNC: 29105
- Entrez Gene: 57449
- Ensembl: ENSG00000171680
- OMIM: 611101
- UniProtKB: O94827
Previous GeneCards Identifiers for PLEKHG5 Gene
- GC01M006462
- GC01M005673
Summaries 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 p75 NTR receptor-mediated signalling and Pathways in cancer. GO annotations related to this gene include signal transducer activity 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 CIViC summary , 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
Enhancers for PLEKHG5 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01G006487 | 1.6 | Ensembl ENCODE dbSUPER | 49.2 | +29.5 | 29504 | 6.0 | HDGF AGO1 ARID4B FEZF1 DMAP1 ZNF2 ZNF143 FOS ZNF263 SP3 | PLEKHG5 TNFRSF25 PHF13 KLHL21 THAP3 ESPN |
| GH01G006485 | 1.2 | ENCODE dbSUPER | 31.4 | +33.8 | 33846 | 2.0 | PKNOX1 ZFP64 ZNF133 ARID4B SIN3A ZNF2 ZNF48 ZNF143 ZNF207 ZNF548 | PLEKHG5 ESPN THAP3 TNFRSF25 |
| GH01G006516 | 1.6 | Ensembl ENCODE dbSUPER | 17.4 | +1.1 | 1106 | 3.9 | HDGF PKNOX1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 YY1 | PLEKHG5 TNFRSF25 |
| GH01G006553 | 1.2 | ENCODE | 16.5 | -34.4 | -34380 | 2.9 | HDGF CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 | ZBTB48 PHF13 PLEKHG5 NOL9 ENSG00000229519 |
| GH01G006544 | 1.1 | ENCODE | 17.5 | -25.8 | -25771 | 3.5 | FOXA2 CREB3L1 ZFP64 SIN3A ARID4B DMAP1 YY1 ZNF766 FOS SP5 | PLEKHG5 RNU6-731P ENSG00000229519 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PLEKHG5 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PLEKHG5 gene promoter:
Regulatory Element Products
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:
-
- 1p36.31 by Ensembl
- 1p36.31 by Entrez Gene
- 1p36.31 by HGNC
PLEKHG5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for PLEKHG5 Gene
Post-translational modifications for PLEKHG5 Gene
Other Protein References for PLEKHG5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PLEKHG5
- Novus Biologicals Antibodies for PLEKHG5
-
Abcam antibodies for PLEKHG5
- Invitrogen Antibodies for PLEKHG5
- antibodies-online Antibodies for PLEKHG5: See all 32
- Search GeneTex for Antibodies for PLEKHG5
-
Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHG5
Protein Products
-
OriGene Purified Proteins for PLEKHG5
- Search Origene for MassSpec and Protein Over-expression Lysates for PLEKHG5
- Origene Custom Protein Services for PLEKHG5
- Search GeneTex for Proteins for PLEKHG5
-
Abcam proteins for PLEKHG5
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PLEKHG5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PLEKHG5 Gene
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | signal transducer activity | IMP | 12761501 |
| GO:0005085 | guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005089 | Rho guanyl-nucleotide exchange factor activity | TAS | -- |
Phenotypes for PLEKHG5 Gene
- MGI mutant phenotypes for PLEKHG5:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PLEKHG5:
Animal Models for PLEKHG5 Gene
- MGI Knock Outs for PLEKHG5:
-
- Plekhg5 tm1.1Jbar
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PLEKHG5
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PLEKHG5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PLEKHG5 gene
- Search ViGene Biosciences for PLEKHG5
CRISPR Products
-
OriGene CRISPR knockouts for PLEKHG5
-
Santa Cruz Biotechnology (SCBT) CRISPR for PLEKHG5
- GenScript: Design CRISPR guide RNA sequences for PLEKHG5
miRNA for PLEKHG5 Gene
- miRTarBase miRNAs that target PLEKHG5
-
- hsa-mir-128-2-5p (MIRT535141)
- hsa-mir-128-1-5p (MIRT535142)
- hsa-mir-4632-3p (MIRT535143)
- hsa-mir-4313 (MIRT535144)
- hsa-mir-6087 (MIRT535145)
- hsa-mir-615-3p (MIRT535146)
- hsa-mir-764 (MIRT535147)
- hsa-mir-744-5p (MIRT535148)
- hsa-mir-5699-5p (MIRT535149)
- hsa-mir-7153-5p (MIRT535150)
- hsa-mir-146b-5p (MIRT535151)
- hsa-mir-146a-5p (MIRT535152)
- hsa-mir-589-5p (MIRT535153)
- hsa-mir-4251 (MIRT535154)
- hsa-mir-4431 (MIRT535155)
- hsa-mir-4324 (MIRT535156)
- hsa-mir-4319 (MIRT535157)
- hsa-mir-125b-5p (MIRT535158)
- hsa-mir-125a-5p (MIRT535159)
- hsa-mir-6793-3p (MIRT535160)
- hsa-mir-1255b-2-3p (MIRT535161)
- hsa-mir-6732-3p (MIRT535162)
miRNA Products
- Search ViGene Biosciences for PLEKHG5
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for PLEKHG5
- Browse OriGene Inhibitory RNA Products For PLEKHG5
-
ViGene Biosciences ready-to-package AAV shRNAs for PLEKHG5 gene
Clone Products
-
OriGene ORF clones in human for PLEKHG5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PLEKHG5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PLEKHG5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PLEKHG5
-
ViGene Biosciences adenoviral particle packaged cDNA for PLEKHG5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PLEKHG5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PLEKHG5 gene
Flow Cytometry 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}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| cytoskeleton | 1 |
| nucleus | 1 |
| 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 | -- |
Pathways & Interactions for PLEKHG5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | Signaling by GPCR | ||
| 3 | Pathways in cancer | ||
| 4 | Signaling by Rho GTPases | ||
| 5 | RET signaling | ||
Pathways by source for PLEKHG5 Gene
1 KEGG pathway for PLEKHG5 Gene
Interacting Proteins for PLEKHG5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| 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 | IMP | 12761501 |
No data available for SIGNOR curated interactions for PLEKHG5 Gene
Transcripts for PLEKHG5 Gene
mRNA/cDNA for PLEKHG5 Gene
- (8) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (180) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PLEKHG5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PLEKHG5
-
Santa Cruz Biotechnology (SCBT) CRISPR for PLEKHG5
- GenScript: Design CRISPR guide RNA sequences for PLEKHG5
miRNA Products
- Search ViGene Biosciences for PLEKHG5
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for PLEKHG5
- Browse OriGene Inhibitory RNA Products For PLEKHG5
-
ViGene Biosciences ready-to-package AAV shRNAs for PLEKHG5 gene
Clone Products
-
OriGene ORF clones in human for PLEKHG5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PLEKHG5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PLEKHG5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
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| SP5: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
Expression for PLEKHG5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- T Helper Cells Peripheral Blood
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PLEKHG5 Gene:
PLEKHG5SOURCE GeneReport for Unigene cluster for PLEKHG5 Gene:
Hs.284232mRNA 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for PLEKHG5
Orthologs for PLEKHG5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PLEKHG5 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PLEKHG5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PLEKHG5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Plekhg5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Plekhg5 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PLEKHG5 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | PLEKHG5 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | plekhg5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC796404 34 |
|
||
| CABZ01057013.1 35 |
|
OneToMany | |||
| plekhg5a 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG42674 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | rhgf-2 35 |
|
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)
Paralogs for PLEKHG5 Gene
(2) SIMAP similar genes for PLEKHG5 Gene using alignment to 2 proteins:
Variants for PLEKHG5 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs202191898 | Pathogenic, Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376] | 6,468,378(+) | GGTGC(C/G/T)GTAGG | reference, missense | |
| rs397515456 | Pathogenic, Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376] | 6,469,396(-) | CTACA(C/T)GTTCC | reference, missense | |
| rs63750315 | Pathogenic, Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067] | 6,469,444(-) | GTCCT(C/T)CCTCC | reference, missense | |
| rs397515454 | Pathogenic | 6,477,534(-) | TCCCC(-/C)ACAAG | reference, frameshift-variant | |
| rs397515455 | Pathogenic | 6,473,051(-) | AAGAC(-/TGAAGAC)GAGGA | reference, frameshift-variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG5 Gene
Disorders for PLEKHG5 Gene
(11) MalaCards diseases for PLEKHG5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, recessive intermediate c |
|
|
| spinal muscular atrophy, distal, autosomal recessive, 4 |
|
|
| plekhg5-related intermediate charcot-marie-tooth neuropathy c |
|
|
| distal spinal muscular atrophy 4 |
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| autosomal recessive intermediate charcot-marie-tooth disease |
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Search PLEKHG5 in MalaCards
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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
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Publications for PLEKHG5 Gene
- 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 64
- 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 64
- 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 4 64
- 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 46 64
- Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
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