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Fgd4 Gene Detail
Summary
  • Symbol
    Fgd4
  • Name
    FYVE, RhoGEF and PH domain containing 4
  • Synonyms
    9330209B17Rik, Frabin, Frabin-alpha, Frabin-beta, Frabin-gamma, ZFYVE6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2183747
    NCBI Gene: 224014
  • Gene Overview
    MyGene.info: FGD4
Location & Maps
more
  • Sequence Map
    Chr16:16416917-16600549 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      183633 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.18 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    FGD4, FYVE, RhoGEF and PH domain containing 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FGD4, FYVE, RhoGEF and PH domain containing 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT4H, FRABP, ZFYVE6
  • Links
    NCBI Gene ID: 121512
    neXtProt AC: NX_Q96M96

  • Chr Location
    12p11.21; chr12:32399541-32646050 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fgd4 mouse models; 1 with human FGD4 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Type 4h; CMT4H   OMIM: 609311 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 4 genetic backgrounds
    10 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
    79
  • Gene trapped
    72
  • Targeted
    7
  • Incidental Mutations
Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030883 VEGA Gene Model | MGI Sequence Detail 183633 C57BL/6J ±  kb
transcript OTTMUST00000076425 VEGA | MGI Sequence Detail 8342 Not Applicable  
polypeptide OTTMUSP00000040229 VEGA | MGI Sequence Detail 766 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    305 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 17
    cDNA 17

    Microarray probesets 7
Other
Accession IDs
less
MGI:2442956
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 6
    Phenotypes 10
  • Earliest
    J:78214 Obaishi H, et al., Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase. J Biol Chem. 1998 Jul 24;273(30):18697-700
  • Latest
    J:190437 Horn M, et al., Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain. 2012 Dec;135(Pt 12):3567-83

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
11/29/2016
MGI 6.06
The Jackson Laboratory