FGD4

Protein-coding gene in humans
FGD4
Identifiers
AliasesFGD4, CMT4H, FRABP, ZFYVE6, FYVE, RhoGEF and PH domain containing 4
External IDsOMIM: 611104; MGI: 2183747; HomoloGene: 26727; GeneCards: FGD4; OMA:FGD4 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for FGD4
Genomic location for FGD4
Band12p11.21Start32,399,558 bp[1]
End32,646,050 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for FGD4
Genomic location for FGD4
Band16|16 A2- A3Start16,234,781 bp[2]
End16,418,413 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 16: 16.23 – 16.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139132 – Ensembl, May 2017
  2. ^ a b c 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. 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


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