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FGD3 (FYVE, RhoGEF And PH Domain Containing 3) is a Protein Coding gene. Diseases associated with FGD3 include Aarskog-Scott Syndrome and Charcot-Marie-Tooth Disease, Type 4H. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and small GTPase binding. An important paralog of this gene is FGD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IBA,ISS | -- |
GO:0031267 | small GTPase binding | ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | ISS | -- |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005794 | Golgi apparatus | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
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2 | Signaling by GPCR | ||
3 | Regulation of actin cytoskeleton | ||
4 | Actin Nucleation by ARP-WASP Complex |
CDC42 Pathway
.41
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5 | Signaling by Rho GTPases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007010 | cytoskeleton organization | ISS | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0008360 | regulation of cell shape | ISS | -- |
GO:0030036 | actin cytoskeleton organization | ISS | -- |
GO:0043065 | positive regulation of apoptotic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 22a | · | 22b |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FGD3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FGD3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FGD3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fgd3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fgd3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FGD3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FGD3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FGD3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FGD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fgd3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fgd 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGEF4 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | exc-5 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6211 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113001851 | Benign: not provided | 93,011,245(+) |
C/T NM_001083536.2(FGD3):c.1008C>T (p.Asn336=) |
SYNONYMOUS | |
rs116496123 | Benign: not provided | 93,034,624(+) |
G/T NM_001083536.2(FGD3):c.1869G>T (p.Val623=) |
SYNONYMOUS | |
rs3802384 | - |
p.Val275Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2188240 | CNV | deletion | 18987734 |
esv2738777 | CNV | deletion | 23290073 |
esv2738778 | CNV | deletion | 23290073 |
esv2738779 | CNV | deletion | 23290073 |
esv3545134 | CNV | deletion | 23714750 |
esv989428 | CNV | loss | 20482838 |
nsv1077164 | CNV | deletion | 25765185 |
nsv1124449 | CNV | deletion | 24896259 |
nsv1137663 | CNV | deletion | 24896259 |
nsv521136 | CNV | loss | 19592680 |
nsv526296 | CNV | loss | 19592680 |
nsv6617 | CNV | insertion | 18451855 |
nsv831654 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aarskog-scott syndrome |
|
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charcot-marie-tooth disease, type 4h |
|
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