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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
  • Alliance
    gene page
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
    UniProt: O94827

  • Chr Location
    1p36.31; chr1:6466092-6520061 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human PLEKHG5 associations

Human Disease Mouse Models
      
IDs
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
    11 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.
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
less
  • All GO Annotations
    14
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
less
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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      211 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 7

      Microarray probesets 3
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 11
    • 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:252982 Luningschror P, et al., Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease. Nat Commun. 2017 Oct 30;8(1):678
    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
    05/08/2018
    MGI 6.12     		The Jackson Laboratory