Human Gene FGD4 (ENST00000472289.5) from GENCODE V38
  Description: Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), transcript variant 15, mRNA. (from RefSeq NM_001384132)
RefSeq Summary (NM_001384131): This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000472289.5
Gencode Gene: ENSG00000139132.16
Transcript (Including UTRs)
   Position: hg38 chr12:32,502,043-32,582,955 Size: 80,913 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr12:32,576,358-32,582,491 Size: 6,134 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:32,502,043-32,582,955)mRNA (may differ from genome)Protein (207 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=FYVE, RhoGEF and PH domain-containing protein 4;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: FGD4
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 4h* (1690), neuropathy, congenital hypomyelinating* (211), congenital hypomyelination neuropathy* (163), tooth disease (13), charcot-marie-tooth disease (12), sensory peripheral neuropathy (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.72 RPKM in Testis
Total median expression: 168.92 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -148.00541-0.274 Picture PostScript Text
3' UTR -95.40464-0.206 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on E9PQT1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  AK297025 - Homo sapiens cDNA FLJ55905 complete cds, highly similar to FYVE, RhoGEF and PH domain-containing protein 4.
BC039708 - Homo sapiens FYVE, RhoGEF and PH domain containing 4, mRNA (cDNA clone IMAGE:5194873), with apparent retained intron.
BC063403 - Homo sapiens cDNA clone IMAGE:5192839, partial cds.
BC096746 - Homo sapiens FYVE, RhoGEF and PH domain containing 4, mRNA (cDNA clone IMAGE:5298083), with apparent retained intron.
AK057294 - Homo sapiens cDNA FLJ32732 fis, clone TESTI2001141, highly similar to Rattus norvegicus actin-filament binding protein Frabin mRNA.
BC045552 - Homo sapiens FYVE, RhoGEF and PH domain containing 4, mRNA (cDNA clone MGC:57222 IMAGE:4831180), complete cds.
AK303334 - Homo sapiens cDNA FLJ56188 complete cds, highly similar to FYVE, RhoGEF and PH domain-containing protein4.
AB385203 - Synthetic construct DNA, clone: pF1KB9340, Homo sapiens FGD4 gene for FYVE, RhoGEF and PH domain-containing protein 4, complete cds, without stop codon, in Flexi system.
AY367054 - Homo sapiens actin-filament binding protein frabin (FRABIN) mRNA, complete cds.
JD403177 - Sequence 384201 from Patent EP1572962.
JD466480 - Sequence 447504 from Patent EP1572962.
JD498601 - Sequence 479625 from Patent EP1572962.
JD251198 - Sequence 232222 from Patent EP1572962.
JD314226 - Sequence 295250 from Patent EP1572962.
JD089937 - Sequence 70961 from Patent EP1572962.
JD301612 - Sequence 282636 from Patent EP1572962.
JD051501 - Sequence 32525 from Patent EP1572962.
JD050746 - Sequence 31770 from Patent EP1572962.
AL713762 - Homo sapiens mRNA; cDNA DKFZp434K1572 (from clone DKFZp434K1572).

-  Other Names for This Gene
  Alternate Gene Symbols: E9PQT1, E9PQT1_HUMAN, ENST00000472289.1, ENST00000472289.2, ENST00000472289.3, ENST00000472289.4, NM_001384132, uc001rkx.1, uc001rkx.2, uc001rkx.3, uc001rkx.4, uc001rkx.5
UCSC ID: ENST00000472289.5
RefSeq Accession: NM_001384131
Protein: E9PQT1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FGD4:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.