FGD4

FYVE, RhoGEF and PH domain-containing protein 4 is a protein that in humans is encoded by the FGD4 gene.[5][6]

FGD4
Identifiers
Aliases	FGD4, CMT4H, FRABP, ZFYVE6, FYVE, RhoGEF and PH domain containing 4
External IDs	OMIM: 611104 MGI: 2183747 HomoloGene: 26727 GeneCards: FGD4
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p11.21 Start 32,399,529 bp[1] End 32,646,050 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 A3 Start 16,416,917 bp[2] End 16,600,549 bp[2]
Gene ontology Molecular function • metal ion binding • small GTPase binding • actin binding • Rho guanyl-nucleotide exchange factor activity • guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • cytosol • Golgi apparatus • cell projection • filopodium • ruffle • cytoskeleton • lamellipodium Biological process • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity • filopodium assembly • cytoskeleton organization • regulation of cell shape • positive regulation of apoptotic process • regulation of Rho protein signal transduction • regulation of small GTPase mediated signal transduction • actin cytoskeleton organization • G-protein coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	121512	224014
Ensembl	ENSG00000139132	ENSMUSG00000022788
UniProt	Q96M96 Q49A55	Q91ZT5
RefSeq (mRNA)	NM_001304480 NM_001304481 NM_001304483 NM_001304484 NM_139241 NM_001330373 NM_001330374 NM_001370297 NM_001370298 NM_001384126 NM_001384127 NM_001384128 NM_001384130 NM_001384131 NM_001384132	NM_001301817 NM_001301818 NM_139232 NM_139233 NM_139234
RefSeq (protein)	NP_001291409 NP_001291410 NP_001291412 NP_001291413 NP_001317302 NP_001317303 NP_640334 NP_001357226 NP_001357227 NP_001371055 NP_001371056 NP_001371057 NP_001371059 NP_001371060 NP_001371061 NP_001291412.1	NP_001288746 NP_001288747 NP_631978
Location (UCSC)	Chr 12: 32.4 – 32.65 Mb	Chr 16: 16.42 – 16.6 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000139132 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022788 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ikeda W, Nakanishi H, Takekuni K, Itoh S, Takai Y (Aug 2001). "Identification of splicing variants of Frabin with partly different functions and tissue distribution". Biochem Biophys Res Commun. 286 (5): 1066–72. doi:10.1006/bbrc.2001.5481. PMID 11527409.
6. "Entrez Gene: FGD4 FYVE, RhoGEF and PH domain containing 4".

Further reading

• Obaishi H, Nakanishi H, Mandai K, et al. (1998). "Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase". J. Biol. Chem. 273 (30): 18697–700. doi:10.1074/jbc.273.30.18697. PMID 9668039.
• Ikeda W, Nakanishi H, Tanaka Y, et al. (2001). "Cooperation of Cdc42 small G protein-activating and actin filament-binding activities of frabin in microspike formation". Oncogene. 20 (27): 3457–63. doi:10.1038/sj.onc.1204463. PMID 11429692.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Chen XM, Splinter PL, Tietz PS, et al. (2004). "Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42". J. Biol. Chem. 279 (30): 31671–8. doi:10.1074/jbc.M401592200. PMID 15133042.
• De Sandre-Giovannoli A, Delague V, Hamadouche T, et al. (2006). "Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11". J. Med. Genet. 42 (3): 260–5. doi:10.1136/jmg.2004.024364. PMC 1736004. PMID 15744041.
• Delague V, Jacquier A, Hamadouche T, et al. (2007). "Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H". Am. J. Hum. Genet. 81 (1): 1–16. doi:10.1086/518428. PMC 1950914. PMID 17564959.
• Stendel C, Roos A, Deconinck T, et al. (2007). "Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4". Am. J. Hum. Genet. 81 (1): 158–64. doi:10.1086/518770. PMC 1950925. PMID 17564972.

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4