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Fgd4
Gene Detail
 Symbol
Name
ID
Fgd4
FYVE, RhoGEF and PH domain containing 4
MGI:2183747
Synonyms 9330209B17Rik, Frabin, Frabin-alpha, Frabin-beta, Frabin-gamma, ZFYVE6
Feature Type protein coding gene
Genetic Map
Chromosome 16
10.18 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr16:16416917-16600549 bp, - strand
From VEGA annotation of GRCm38

  183633 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:26727  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: FYVE, RhoGEF and PH domain containing protein(1-4)
Gene Tree: Fgd4

Human
homologs
Human Homolog FGD4, FYVE, RhoGEF and PH domain containing 4
NCBI Gene ID 121512
neXtProt AC  NX_Q96M96
Human Synonyms  CMT4H, FRABP, ZFYVE6
Human Chr (Location)  12p11.21; chr12:32399634-32646050 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human FGD4
Mutations,
alleles, and
phenotypes
All mutations/alleles(79) : Gene trapped(72) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Fgd4 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Fgd4 interacts with 468 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process activation of JUN kinase activity, lamellipodium assembly, ...
Component actin cytoskeleton, cell projection, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (115)    Tissues (19)    Images (25)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 115
cDNA source data(11)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(13)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000030883 (Evidence)
Ensembl Gene ModelENSMUSG00000022788 (Evidence)
Entrez Gene224014 (Evidence)
DFCITC1580379, TC1592927, TC1593173, TC1595663, TC1596473, TC1598049, TC1611971, TC1705276
DoTSDT.110710690, DT.110710719, DT.40155285, DT.40164610, DT.524045, DT.60101205, DT.87031725, DT.91378972, DT.97352642
NIA Mouse Gene IndexU036828, U290456
Consensus CDS ProjectCCDS27986.1, CCDS49773.1, CCDS49774.1
International Mouse Knockout Project StatusFgd4
Sequences
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 sequences
All sequences(108) RefSeq(26) UniProt(5)
Polymorphisms SNPs within 2kb(322 from dbSNP Build 137)    SNPs within 2kb including multiple locations(326)
Protein-related
information
ResourceIDDescription
InterPro IPR000219 Dbl homology (DH) domain
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR017455 Zinc finger, FYVE-related
InterPro IPR000306 Zinc finger, FYVE-type
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
Protein Ontology PR:000007476 FYVE, RhoGEF and PH domain-containing protein 4
References (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
All references(42)
Disease annotation references (1)
Other
accession IDs
MGI:2442956

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory