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Plekhg5
Gene Detail
 Symbol
Name
ID
Plekhg5
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
MGI:2652860
Synonyms mKIAA0720, Syx1, Syx2
Feature Type protein coding gene
Genetic Map
Chromosome 4
82.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:152072498-152115400 bp, + strand
From VEGA annotation of GRCm38

  42903 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10768  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Plekhg5

Human
homologs
Human Homolog PLEKHG5, pleckstrin homology domain containing, family G (with RhoGef domain) member 5
NCBI Gene ID 57449
neXtProt AC  NX_O94827
Human Synonyms  CMTRIC, DSMA4, GEF720, Syx, Tech
Human Chr (Location)  1p36.31; chr1:6466092-6520061 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PLEKHG5
Mutations,
alleles, and
phenotypes
All mutations/alleles(76) : Gene trapped(72) Targeted(4)
Genomic Mutations involving Plekhg5 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.
 
Interactions
Plekhg5 interacts with 147 markers (Mir17, Mir19a, Mir19b-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process endothelial cell chemotaxis, endothelial cell migration, ...
Component cell-cell junction, cell junction, ...
Function protein binding, Rho guanyl-nucleotide exchange factor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (12)    Tissues (11)    Images (1)
Theiler Stages: 20, 21, 25, 28
Assay TypeResults
Immunohistochemistry 6
Northern blot 6
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(9) cDNA(7) Other(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000010225 (Evidence)
Ensembl Gene ModelENSMUSG00000039713 (Evidence)
Entrez Gene269608 (Evidence)
DFCITC1578941, TC1596224, TC1643125
DoTSDT.101268553, DT.101725549, DT.110817714, DT.488674
NIA Mouse Gene IndexU042601
Consensus CDS ProjectCCDS18987.2
International Mouse Knockout Project StatusPlekhg5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010225 VEGA Gene Model | MGI Sequence Detail 42903 C57BL/6J ±  kb
transcript OTTMUST00000023755 VEGA | MGI Sequence Detail 3842 Not Applicable 
polypeptide OTTMUSP00000010873 VEGA | MGI Sequence Detail 1073 Not Applicable 

For the selected sequences
All sequences(68) RefSeq(17) UniProt(2)
Polymorphisms SNPs within 2kb(211 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000219 Dbl homology (DH) domain
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
Protein Ontology PR:000012862 pleckstrin homology domain-containing family G member 5
References (Earliest) J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
(Latest) J:201081 Azzedine H, et al., PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet. 2013 Oct 15;22(20):4224-32
All references(36)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory