About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:16416910-16600541 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.18 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    305 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2183747
protein coding gene Chr16:16416910-16600549 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022558
protein coding gene Chr16:13522811-13699423 (-)
A/J MGP_AJ_G0022519
protein coding gene Chr16:12824821-13009172 (-)
AKR/J MGP_AKRJ_G0022496
protein coding gene Chr16:13342116-13530973 (-)
BALB/cJ MGP_BALBcJ_G0022524
protein coding gene Chr16:12984353-13165748 (-)
C3H/HeJ MGP_C3HHeJ_G0022291
protein coding gene Chr16:13436963-13619389 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022973
protein coding gene Chr16:13695655-13883867 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020493
protein coding gene Chr16:12904135-13071328 (-)
CAST/EiJ MGP_CASTEiJ_G0021818
protein coding gene Chr16:13379201-13561302 (-)
CBA/J MGP_CBAJ_G0022260
protein coding gene Chr16:14320932-14528963 (-)
DBA/2J MGP_DBA2J_G0022392
protein coding gene Chr16:12769723-12948039 (-)
FVB/NJ MGP_FVBNJ_G0022367
protein coding gene Chr16:12810192-12980447 (-)
LP/J MGP_LPJ_G0022459
protein coding gene Chr16:13311023-13493848 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022389
protein coding gene Chr16:14019691-14239239 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022986
protein coding gene Chr16:13282565-13457460 (-)
PWK/PhJ MGP_PWKPhJ_G0021560
protein coding gene Chr16:13000658-13177214 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021388
protein coding gene Chr16:13269955-13480538 (-)
WSB/EiJ MGP_WSBEiJ_G0021866
protein coding gene Chr16:13281424-13473773 (-)



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: HGNC, HomoloGene
  • Synonyms
    CMT4H, FRABP, ZFYVE6
  • Links
    NCBI Gene ID: 121512
    neXtProt AC: NX_Q96M96
    UniProt: Q96M96

  • Chr Location
    12p11.21; chr12:32399523-32646050 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
less
  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 224014 NCBI Gene Model | MGI Sequence Detail 183632 C57BL/6J ±  kb
transcript NM_001301817 RefSeq | MGI Sequence Detail 8362 C57BL/6  
polypeptide Q91ZT5 UniProt | EBI | MGI Sequence Detail 766 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    Genomic 1
    cDNA 17

    Microarray probesets 7
Other
Accession IDs
less
MGI:2442956
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 5
    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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/04/2018
MGI 6.13
The Jackson Laboratory