FGD4 - FYVE, RhoGEF and PH domain containing 4 Gene
Also Known as CMT4H; FRABP; ZFYVE6
Species: Homo sapiens
About FGD4
This gene has 20 transcripts (splice variants), 285 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 8.0), stomach (RPKM 6.8) and 25 other tissues.
Summary
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 MAPK8 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]
FGD4 Products (15)
| mRNA | Protein | Name |
|---|---|---|
| NM_001304481.1 | NP_001291410.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 2 |
| NM_001304483.2 | NP_001291412.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 4 |
| NM_001304484.2 | NP_001291413.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 5 |
| NM_001330373.2 | NP_001317302.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 6 |
| NM_001330374.2 | NP_001317303.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 6 |
| NM_001370297.1 | NP_001357226.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 7 |
| NM_001370298.3 | NP_001357227.2 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 8 |
| NM_001384126.1 | NP_001371055.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 9 |
| NM_001384127.1 | NP_001371056.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 10 |
| NM_001384128.1 | NP_001371057.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 10 |
| NM_001384130.1 | NP_001371059.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 6 |
| NM_001384131.1 | NP_001371060.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 11 |
| NM_001384132.1 | NP_001371061.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 11 |
| NM_001385118.1 | NP_001372047.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 3 |
| NM_139241.3 | NP_640334.2 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 3 |
FGD4 Protein Structure
RhoGEF: RhoGEF domain (210 - 391)
PH: PH domain (423 - 520)
FYVE: FYVE zinc finger (555 - 618)
PH: PH domain (650 - 736)
- 0
- 200
- 400
- 600
- 766 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
FYVE, RhoGEF and PH domain-containing protein 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Charcot-Marie-Tooth Disease, Type 4h |
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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| Tooth Disease |
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| Charcot-Marie-Tooth Disease |
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| Aarskog-Scott Syndrome |
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| Charcot-Marie-Tooth Disease, Type 4d |
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| Polyneuropathy Due To Drug |
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| Charcot-Marie-Tooth Disease And Deafness |
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
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| Neuropathy |
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| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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| Charcot-Marie-Tooth Disease, Type 4b3 |
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| Neuropathy, Hereditary Motor And Sensory, Russe Type |
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| Charcot-Marie-Tooth Disease, Type 4c |
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| Charcot-Marie-Tooth Disease, Type 4b2 |
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| Charcot-Marie-Tooth Disease, Type 4b1 |
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| Charcot-Marie-Tooth Disease, Type 4j |
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| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
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| Charcot-Marie-Tooth Disease, Axonal, Type 2t |
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| Charcot-Marie-Tooth Disease, Type 4a |
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
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| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
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| Neuropathy, Hereditary, With Liability To Pressure Palsies |
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| Hypertrophic Neuropathy Of Dejerine-Sottas |
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
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| Charcot-Marie-Tooth Disease Intermediate Type |
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
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| Sensory Peripheral Neuropathy |
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| Neuromuscular Disease |
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| Peripheral Nervous System Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | FGD4 | RGD | RGD:708357 |
| Macaca mulatta | FGD4 | VGNC | VGNC:72534 |
| Mus musculus | FGD4 | MGD | MGI:2183747 |
| Felis catus | FGD4 | VGNC | VGNC:62242 |
| Canis familiaris | FGD4 | VGNC | VGNC:40836 |
| Bos taurus | FGD4 | VGNC | VGNC:28967 |
| Others | FGD4 | NCBI |