• Gene id: 121512

Gene Summary

• Gene Symbol: FGD4   Gene   UCSC   Ensembl
• Aliases: CMT4H, FRABP, ZFYVE6
• Gene name: FYVE, RhoGEF and PH domain containing 4
• Alternate names: FYVE, RhoGEF and PH domain-containing protein 4, FGD1 family, member 4, FGD1-related F-actin-binding protein, actin-filament binding protein frabin, zinc finger FYVE domain-containing protein 6,
• Gene location: 12p11.21 (32399522: 32646049)     Exons: 27     NC_000012.12
• Gene summary(Entrez): 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 fo
• OMIM: 611485

Protein Summary

• Protein general information: Q96M96  
  • Name: FYVE, RhoGEF and PH domain containing protein 4 (Actin filament binding protein frabin) (FGD1 related F actin binding protein) (Zinc finger FYVE domain containing protein 6)
  • Length: 766  
  • Mass: 86626
  • Tissue specificity: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis. {ECO
• Sequence:

  MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTTTPQQKLLSQHLPQRQ
  GNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASEPLLDTHIVNGERDETATAPASPTTDSCDGN
  ASDSSYRTPGIGPVLPLEERGAETETKVQERENGESPLELEQLDQHHEMKETNEQKLHKIANELLLTERAYVNRL
  DLLDQVFYCKLLEEANRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWETTPRIGDILQKLAPFLKMYG
  EYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQRIPRYEMLLKDYLRKLPPDSLDWND
  AKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPSNELIKEGQILKLAARNTSAQERYLFLFNNM
  LLYCVPKFSLVGSKFTVRTRVGIDGMKIVETQNEEYPHTFQVSGKERTLELQASSAQDKEEWIKALQETIDAFHQ
  RHETFRNAIAKDNDIHSEVSTAELGKRAPRWIRDNEVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQL
  EYDGGKLSKVCKDCYQIISGFTDSEEKKRKGILEIESAEVSGNSVVCSFLQYMEKSKPWQKAWCVIPKQDPLVLY
  MYGAPQDVRAQATIPLLGYVVDEMPRSADLPHSFKLTQSKSVHSFAADSEELKQKWLKVILLAVTGETPGGPNEH
  PATLDDHPEPKKKSEC

• Structural information:
  • Protein Domains: (206..39-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (422..52-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (643..74-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR037742  IPR035941  IPR011993   IPR001849  IPR000306  IPR017455  IPR013083  
  • Prosite: PS50010 PS50003 PS50178
  • CDD: cd15791 cd13236 cd00160
  • STRING: ENSP00000394487
• Other Databases: GeneCards:  FGD4  Malacards:  FGD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0046847	filopodium assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0030175	filopodium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0046847	filopodium assembly	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0031267	small GTPase binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0008360	regulation of cell shape	ISS	biological process
GO:0007010	cytoskeleton organization	ISS	biological process
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0046847	filopodium assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0030175	filopodium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0046847	filopodium assembly	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0031267	small GTPase binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0008360	regulation of cell shape	ISS	biological process
GO:0007010	cytoskeleton organization	ISS	biological process
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq