| 708357 | Fgd4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding; actin filament binding; INVOLVED IN positive regulation of JNK cascade; positive regulation of JUN kinase activity; regulation of cell shape; ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disease type 4 (ortholog); Charcot- Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine | 11 | 97904182 | 98055190 | Rat | 163 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 732078 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAP K8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] | 12 | 32399558 | 32646050 | Human | 277 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1332050 | Fgd4 | FYVE, RhoGEF and PH domain containing 4 | This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal ner ve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] | 16 | 16234774 | 16418400 | Mouse | 173 | symbol , PhenoGen | gene, protein-coding, REVIEWED [RefSeq] |
| 8871029 | Fgd4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog) | NW_004955505 | 3108131 | 3314040 | Chinchilla | 18 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11996836 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog) | 12 | 53574573 | 53822971 | Bonobo | 31 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12192200 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog) | 27 | 16252405 | 16464099 | Dog | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12583131 | Fgd4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); filopodium (inferred) | NW_004936607 | 3675217 | 3796329 | Squirrel | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 20866349 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | | | | | Green Monkey | | symbol | gene, protein-coding |
| 18913267 | Fgd4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN lamellipodium (ortholog) | | | | Naked Mole-Rat | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13928665 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog) | | | | Pig | 29 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18790216 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog) | | | | Green Monkey | 28 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626036470 | Fgd4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN lamellipodium assembly (ortholog); microspike assembly (ortholog); positive regulation of JNK cascade (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disea se type 4 (ortholog); Charcot-Marie-Tooth disease type 4H (ortholog); FOUND IN filopodium (ortholog); lamellipodium (ortholog) | | | | Black Rat | 15 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155254463 | fgd4 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 13936768 | FGD4 | FYVE, RhoGEF and PH domain containing 4 | ENCODES a protein that exhibits BH2 domain binding (ortholog); clathrin binding (ortholog); identical protein binding (ortholog); INVOLVED IN calcium ion transport (ortholog); cellular response to hypoxia (ortholog); cellular response to lipid (ortholog); PARTICIPATES IN mitochondria fission pathway ; ASSOCIATED WITH Alzheimer's disease (ortholog); chronic kidney disease (ortholog); Coxsackievirus Infections (ortholog); FOUND IN clathrin coat of trans-Golgi network vesicle (ortholog); endoplasmic reticulum (ortholog); Golgi membrane (ortholog); INTERACTS WITH 3-methyladenine; cadmium atom; cadmium dichloride | | | | Pig | 184 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155246630 | fgd4.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155251875 | fgd4.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1584931 | Fgd4-ps1 | FYVE, RhoGEF and PH domain containing 4, pseudogene 1 | | 1 | 78624288 | 78632138 | Rat | | symbol , PhenoGen | gene, pseudo, MODEL [RefSeq] |