Entity Details

Primary name FGD4
Entity type gene
Source Source Link

Details

PrimaryID121512
RefseqGeneNG_008626
SymbolFGD4
NameFYVE, RhoGEF and PH domain containing 4
Chromosome12
Location12p11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsFGD4_HUMAN

GO terms

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GOName
GO:0001726 ruffle
GO:0003779 actin binding
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0007010 cytoskeleton organization
GO:0007186 G protein-coupled receptor signaling pathway
GO:0008360 regulation of cell shape
GO:0030027 lamellipodium
GO:0030036 actin cytoskeleton organization
GO:0030175 filopodium
GO:0031267 small GTPase binding
GO:0043065 positive regulation of apoptotic process
GO:0043087 regulation of GTPase activity
GO:0046847 filopodium assembly
GO:0046872 metal ion binding
GO:0051056 regulation of small GTPase mediated signal transduction

Diseases

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Disease IDSourceNameDescription
609311 OMIMCharcot-Marie-Tooth disease 4H (CMT4H)A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. The disease is caused by variants affecting the gene represented in this entry.