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Plekhg5 Gene Detail
Summary
  • Symbol
    Plekhg5
  • Name
    pleckstrin homology domain containing, family G (with RhoGef domain) member 5
  • Synonyms
    mKIAA0720, Syx1, Syx2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2652860
    NCBI Gene: 269608
  • Gene Overview
    MyGene.info: PLEKHG5
Location & Maps
more
  • Sequence Map
    Chr4:152072498-152115400 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      42903 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 82.86 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PLEKHG5, pleckstrin homology and RhoGEF domain containing G5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PLEKHG5, pleckstrin homology and RhoGEF domain containing G5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMTRIC, DSMA4, GEF720, Syx, Tech
  • Links
    NCBI Gene ID: 57449
    neXtProt AC: NX_O94827

  • Chr Location
    1p36.31; chr1:6466092-6520061 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with human PLEKHG5 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Recessive Intermediate C; CMTRIC   OMIM: 615376
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4; DSMA4   OMIM: 611067
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    77
  • Gene trapped
    72
  • Targeted
    5
  • Genomic Mutations
    3 involving Plekhg5
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    16
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    12
  • Tissues
    11
  • cDNA Data
    7
  • Literature Summary
    2
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    211 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000012862 pleckstrin homology domain-containing family G member 5
  • InterPro Domains
    IPR000219 Dbl homology (DH) domain
    IPR011993 PH domain-like
    IPR001849 Pleckstrin homology domain
    IPR029071 Ubiquitin-related domain
Molecular
Reagents
less
  • All nucleic 9
    cDNA 7
    Other 2

    Microarray probesets 3
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 8
  • 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
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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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory