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

Gene ID: 224014, updated on 8-Sep-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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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. Association of frabin with specific actin and membrane structures. Kim Y, et al. Genes Cells, 2002 Apr. PMID 11952837
  3. Two actions of frabin: direct activation of Cdc42 and indirect activation of Rac. Ono Y, et al. Oncogene, 2000 Jun 22. PMID 10871857
  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 (31) 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 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
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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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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

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