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    Fgd4 FYVE, RhoGEF and PH domain containing 4 [ Mus musculus (house mouse) ]

    Gene ID: 224014, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Fgd4provided by MGI
    Official Full Name
    FYVE, RhoGEF and PH domain containing 4provided by MGI
    Primary source
    MGI:MGI:2183747
    See related
    Ensembl:ENSMUSG00000022788 AllianceGenome:MGI:2183747
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Frabp; ZFYVE6; 9030023J02Rik; 9330209B17Rik
    Summary
    This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
    Expression
    Broad expression in CNS E18 (RPKM 3.6), whole brain E14.5 (RPKM 3.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fgd4 in Genome Data Viewer
    Location:
    16 A2- A3; 16 10.18 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (16234774..16418400, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (16416910..16600534, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40229 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_40230 Neighboring gene heterogeneous nuclear ribonucleoprotein L pseudogene Neighboring gene STARR-seq mESC enhancer starr_40231 Neighboring gene STARR-seq mESC enhancer starr_40232 Neighboring gene STARR-seq mESC enhancer starr_40233 Neighboring gene ubiquitin-40S ribosomal protein S27a pseudogene Neighboring gene STARR-seq mESC enhancer starr_40236 Neighboring gene STARR-seq mESC enhancer starr_40237 Neighboring gene olfactory receptor family 7 subfamily A member 40 Neighboring gene RIKEN cDNA 4933404G15 gene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4. Song XY, et al. Int J Mol Med, 2022 Jun. PMID 35417030, Free PMC Article
    2. Two actions of frabin: direct activation of Cdc42 and indirect activation of Rac. Ono Y, et al. Oncogene, 2000 Jun 22. PMID 10871857
    3. Association of frabin with specific actin and membrane structures. Kim Y, et al. Genes Cells, 2002 Apr. PMID 11952837
    4. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Stendel C, et al. Am J Hum Genet, 2007 Jul. PMID 17564972, Free PMC Article
    5. Suppression of chemotaxis by SSeCKS via scaffolding of phosphoinositol phosphates and the recruitment of the Cdc42 GEF, Frabin, to the leading edge. Ko HK, et al. PLoS One, 2014. PMID 25356636, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4.
      Title: Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4.
    2. The enrichment of activated Cdc42 in SSeCKS-null leading edge filopodia correlated with recruitment of the Cdc42-specific guanine nucleotide exchange factor, Frabin.
      Title: Suppression of chemotaxis by SSeCKS via scaffolding of phosphoinositol phosphates and the recruitment of the Cdc42 GEF, Frabin, to the leading edge.
    3. This study demonistrated that the disease-initiating event in CMT4H is loss of a Schwann cell-specific cellular function of Frabin/Fgd4.
      Title: Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within microspike assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of JUN kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FYVE, RhoGEF and PH domain-containing protein 4
    Names
    Fgd1-related F-actin-binding protein
    actin filament-binding protein frabin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301817.2 → NP_001288746.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC169505, CT476831, CT573014
      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (5) summary
      cd13236
      Location:758 → 860
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:544 → 637
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:675 → 739
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00169
      Location:544 → 641
      PH; PH domain
      pfam00621
      Location:331 → 512
      RhoGEF; RhoGEF domain

    2. NM_001301818.1 → NP_001288747.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha

      See identical proteins and their annotated locations for NP_001288747.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. It represents the use of an alternate promoter. The resulting isoform (alpha) has a shorter N-terminus, compared to isoform 1. Variants alpha and 2 encode the same isoform (alpha).
      Source sequence(s)
      AC169505, AK028302, AK042588, AK149626, BQ175875, BQ445726, BQ831987, CA327140, CJ258048, CO045234, CO045914, CT573014
      Consensus CDS
      CCDS27986.1
      UniProtKB/Swiss-Prot
      A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5
      UniProtKB/TrEMBL
      F8WGX0
      Related
      ENSMUSP00000069573.8, ENSMUST00000069284.14
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    3. NM_139232.3 → NP_631978.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha

      See identical proteins and their annotated locations for NP_631978.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. It represents use of an alternate promoter. The resulting isoform (alpha) has a shorter N-terminus, compared to isoform 1. Variants alpha and 2 encode the same isoform (alpha).
      Source sequence(s)
      AF402611, AK042588, BQ175875, BQ445726, BQ831987, CA327140, CJ120679, CJ258048, CO045234, CO045914, CT573014
      Consensus CDS
      CCDS27986.1
      UniProtKB/Swiss-Prot
      A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5
      UniProtKB/TrEMBL
      F8WGX0
      Related
      ENSMUSP00000125174.2, ENSMUST00000161861.8
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      16234774..16418400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245874.4 → XP_011244176.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

      See identical proteins and their annotated locations for XP_011244176.1

      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:163 → 347
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:593 → 695
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:379 → 472
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:510 → 574
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    2. XM_006522027.5 → XP_006522090.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      See identical proteins and their annotated locations for XP_006522090.1

      UniProtKB/Swiss-Prot
      A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5
      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    3. XM_036159882.1 → XP_036015775.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:163 → 347
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:593 → 695
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:379 → 472
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:510 → 574
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    4. XM_006522024.5 → XP_006522087.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:251 → 435
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:681 → 783
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:467 → 560
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:598 → 662
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    5. XM_006522023.3 → XP_006522086.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:281 → 465
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:711 → 813
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:497 → 590
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:628 → 692
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    6. XM_030249066.2 → XP_030104926.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:163 → 347
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:593 → 695
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:379 → 472
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:510 → 574
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    7. XM_006522029.4 → XP_006522092.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      See identical proteins and their annotated locations for XP_006522092.1

      UniProtKB/Swiss-Prot
      A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5
      UniProtKB/TrEMBL
      F8WGX0
      Related
      ENSMUSP00000125736.2, ENSMUST00000162671.8
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    8. XM_006522025.5 → XP_006522088.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

      UniProtKB/TrEMBL
      F8WGX0
      Conserved Domains (4) summary
      cd00160
      Location:224 → 408
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:654 → 756
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:440 → 533
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:571 → 635
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    RNA

    1. XR_875778.3 RNA Sequence

    2. XR_004939181.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139233.2: Suppressed sequence

      Description
      NM_139233.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_139234.2: Suppressed sequence

      Description
      NM_139234.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91ZT5.1 GenPept UniProtKB/Swiss-Prot:Q91ZT5

    Gene LinkOut

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