FGD4

FGD4
Identifiers
Aliases	FGD4, CMT4H, FRABP, ZFYVE6, FYVE, RhoGEF and PH domain containing 4
External IDs	OMIM: 611104; MGI: 2183747; HomoloGene: 26727; GeneCards: FGD4; OMA:FGD4 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p11.21 Start 32,399,558 bp End 32,646,050 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 A2- A3 Start 16,234,781 bp End 16,418,413 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa Achilles tendon mucosa of ileum retinal pigment epithelium pancreatic epithelial cell trabecular bone visceral pleura mucosa of paranasal sinus lower lobe of lung Skeletal muscle tissue of biceps brachii Top expressed in epithelium of small intestine retinal pigment epithelium pineal gland interventricular septum granulocyte Epithelium of choroid plexus ciliary body iris epithelium of stomach Rostral migratory stream More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding small GTPase binding actin binding guanyl-nucleotide exchange factor activity Cellular component cytoplasm cytosol Golgi apparatus cell projection filopodium ruffle cytoskeleton lamellipodium Biological process 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_001385118 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: 16.23 – 16.42 Mb PubMed search
Wikidata
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FYVE, RhoGEF and PH domain-containing protein 4 is a protein encoded in humans by the FGD4 gene.

See also

• FYVE, RhoGEF and PH domain containing
  • FYVE domain (zinc finger domain)
  • RhoGEF domain (with guanine nucleotide exchange factor activity)
  • PH domain (pleckstrin homology domain)

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. S2CID 27464942.
• 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. Bibcode:2002PNAS...9916899M. 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