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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 i... See more...
Aliases for FGD4 Gene
Aliases for FGD4 Gene
External Ids for FGD4 Gene
- HGNC: 19125
- NCBI Entrez Gene: 121512
- Ensembl: ENSG00000139132
- OMIM®: 611104
- UniProtKB/Swiss-Prot: Q96M96
Previous GeneCards Identifiers for FGD4 Gene
- GC12P032546
- GC12P032654
Summaries for FGD4 Gene
-
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]
GeneCards Summary for FGD4 Gene
FGD4 (FYVE, RhoGEF And PH Domain Containing 4) is a Protein Coding gene. Diseases associated with FGD4 include Charcot-Marie-Tooth Disease, Type 4H and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include actin binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD1.
UniProtKB/Swiss-Prot Summary for FGD4 Gene
-
Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).
Additional gene information for FGD4 Gene
- HGNC (19125)
- NCBI Entrez Gene (121512)
- Ensembl (ENSG00000139132)
- OMIM® (611104)
- UniProtKB/Swiss-Prot (Q96M96)
- Open Targets Platform(ENSG00000139132)
- Monarch Initiative
- Search for FGD4 at DataMed
- Search for FGD4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGD4 Gene
Genomics for FGD4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FGD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FGD4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGD4
- Top Transcription factor binding sites by QIAGEN in the FGD4 gene promoter:
-
- aMEF-2
- AML1a
- AREB6
- E47
- FOXF2
- MEF-2A
- p300
- Sox5
- Sox9
- Tal-1beta
Genomic Locations for FGD4 Gene
Latest Assembly
- chr12:32,399,523-32,646,050
- (GRCh38/hg38)
- Size:
- 246,528 bases
- Orientation:
- Plus strand
Previous Assembly
- chr12:32,552,492-32,798,984
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 246,493 bases
- Orientation:
- Plus strand
- chr12:32,552,463-32,798,984
- (GRCh37/hg19 by Ensembl)
- Size:
- 246,522 bases
- Orientation:
- Plus strand
Genomic View for FGD4 Gene
Genes around FGD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p11.21 by HGNC
- 12p11.21 by Entrez Gene
- 12p11.21 by Ensembl
FGD4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FGD4 Gene
Proteins for FGD4 Gene
-
Protein details for FGD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96M96-FGD4_HUMAN
- Recommended name:
- FYVE, RhoGEF and PH domain-containing protein 4
- Protein Accession:
- Q96M96
- Q6ULS2
- Q8TCP6
Protein attributes for FGD4 Gene
- Size:
- 766 amino acids
- Molecular mass:
- 86626 Da
- Quaternary structure:
-
- Homooligomer.
Protein Expression for FGD4 Gene
Post-translational modifications for FGD4 Gene
Other Protein References for FGD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005253366.1
- XP_005253367.1
- XP_011518856.1
- XP_011518857.1
- XP_011518858.1
- XP_011518859.1
- XP_011518860.1
- XP_011518861.1
- XP_024304605.1
- XP_024304606.1
- XP_024304607.1
- XP_024304608.1
- NP_001291410.1
- NP_001291412.1
- NP_001291413.1
- NP_001317302.1
- NP_001317303.1
- NP_001357226.1
- NP_001357227.2
- NP_001371055.1
- NP_001371056.1
- NP_001371057.1
- NP_001371059.1
- NP_001371060.1
- NP_001371061.1
- NP_001372047.1
- NP_640334.2
- NP_001291409.1
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for FGD4
- Novus Biologicals Antibodies for FGD4
-
Abcam antibodies for FGD4
- Invitrogen Antibodies for FGD4 (AFLGC-FGD4)
-
Biorbyt antibodies for FGD4
-
Boster Bio Antibodies for FGD4
-
Santa Cruz Biotechnology (SCBT) Antibodies for FGD4
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for FGD4
- Origene Custom Protein Services for FGD4
Assay products for research
- antibodies-online: Search results for available FGD4 related products ranked by validation data
No data available for DME Specific Peptides for FGD4 Gene
Domains & Families for FGD4 Gene
Gene Families for FGD4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for FGD4 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
- DH domain
- Zn-finger, FYVE type
- ProtoNet:
Suggested Antigen Peptide Sequences for FGD4 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55905, highly similar to FYVE, RhoGEF and PH domain-containing protein 4 (B7Z493_HUMAN)
- Zinc finger FYVE domain-containing protein 6 (FGD4_HUMAN)
- FGD4 protein (Q49A55_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96M96UniProtKB/Swiss-Prot:
FGD4_HUMAN :- The part of the protein spanning the actin filament-binding domain together with the DH domain and the first PH domain is necessary and sufficient for microspike formation. Activation of MAPK8 requires the presence of all domains with the exception of the actin filament-binding domain (By similarity).
- Domain:
-
- The part of the protein spanning the actin filament-binding domain together with the DH domain and the first PH domain is necessary and sufficient for microspike formation. Activation of MAPK8 requires the presence of all domains with the exception of the actin filament-binding domain (By similarity).
Function for FGD4 Gene
Molecular function for FGD4 Gene
- UniProtKB/Swiss-Prot Function:
- Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).
Phenotypes From GWAS Catalog for FGD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,ISS | -- |
| GO:0031267 | small GTPase binding | ISS | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for FGD4 Gene
- MGI mutant phenotypes for FGD4:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FGD4:
Animal Models for FGD4 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FGD4 - Starting at $85 >
- * FGD4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FGD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FGD4
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGD4
miRNA for FGD4 Gene
- miRTarBase miRNAs that target FGD4
-
- mmu-let-7b-5p (MIRT012081)
- hsa-miR-4487 (MIRT272324)
- hsa-miR-526b-5p (MIRT448830)
- hsa-miR-431-5p (MIRT448831)
- hsa-miR-6716-5p (MIRT448832)
- hsa-miR-558 (MIRT448833)
- hsa-miR-3160-3p (MIRT448834)
- hsa-miR-4646-5p (MIRT448835)
- hsa-miR-204-3p (MIRT448836)
- hsa-miR-1-3p (MIRT448837)
- hsa-miR-206 (MIRT448838)
- hsa-miR-613 (MIRT448839)
- mmu-miR-322-5p (MIRT599010)
- mmu-miR-497a-5p (MIRT599011)
- mmu-miR-16-5p (MIRT599012)
- mmu-miR-1907 (MIRT599013)
- mmu-miR-15b-5p (MIRT599014)
- mmu-miR-15a-5p (MIRT599015)
- mmu-miR-195a-5p (MIRT599016)
- mmu-miR-1906 (MIRT599017)
- hsa-miR-129-5p (MIRT668359)
- hsa-miR-3152-5p (MIRT668360)
- hsa-miR-4774-3p (MIRT668361)
- hsa-miR-3942-3p (MIRT668362)
- hsa-miR-6836-3p (MIRT668363)
- hsa-miR-5100 (MIRT668364)
- hsa-miR-4797-3p (MIRT668365)
- hsa-miR-545-5p (MIRT668366)
- hsa-miR-10b-3p (MIRT668367)
- hsa-miR-4266 (MIRT703561)
- hsa-miR-499a-5p (MIRT703562)
- hsa-miR-208b-3p (MIRT703563)
- hsa-miR-208a-3p (MIRT703564)
- hsa-miR-302f (MIRT703565)
- hsa-miR-641 (MIRT703566)
- hsa-miR-3617-5p (MIRT703567)
- hsa-miR-335-3p (MIRT709060)
- hsa-miR-5096 (MIRT709061)
- hsa-miR-197-3p (MIRT709062)
- hsa-miR-4742-3p (MIRT709063)
- hsa-miR-339-5p (MIRT709064)
- hsa-miR-490-5p (MIRT709065)
- hsa-miR-7153-3p (MIRT709066)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FGD4
- Browse OriGene Inhibitory RNA Products For FGD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD4
Clone products for research
- Applied Biological Materials (abm): Clones for FGD4 - Starting at $45 >
- * FGD4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG220026
- MG220124
- MG220461
- MR220026
- MR220026L3
- MR220026L4
- MR220124
- MR220124L3
- MR220124L4
- MR220461
- MR220461L3
- MR220461L4
- MR231097
- MR231319
- RC219442
- RC219442L3
- RC219442L4
- RG219442
- RR201280
- RR201280L3
- RR201280L4
- MR220026L3V
- MR220026L4V
- MR220124L3V
- MR220124L4V
- MR220461L3V
- MR220461L4V
- RC219442L3V
- RC219442L4V
- RR201280L3V
- RR201280L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FGD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FGD4
Cell Lines for research
-
Horizon Cell Lines for FGD4
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGD4 Gene
Localization for FGD4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FGD4 Gene
- Cytoplasm, cytoskeleton. Cell projection, filopodium. Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| cytosol | 4 |
| golgi apparatus | 4 |
| plasma membrane | 2 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Actin filaments (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | ISS | -- |
| GO:0005737 | cytoplasm | IEA,ISS | -- |
| GO:0005794 | Golgi apparatus | ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for FGD4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | Signaling by GPCR | ||
| 3 | Signaling by Rho GTPases | ||
| 4 | RET signaling | ||
| 5 | G-protein signaling_Regulation of CDC42 activity |
G-protein signaling_Regulation of CDC42 activity
-
|
|
Pathways by source for FGD4 Gene
1 GeneGo (Thomson Reuters) pathway for FGD4 Gene
- G-protein signaling_Regulation of CDC42 activity
Interacting Proteins for FGD4 Gene
GPS-Prot Interaction Network for FGD4
| 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 | -- |
Transcripts for FGD4 Gene
mRNA/cDNA for FGD4 Gene
- 16 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000395740 2691 nts (view in UCSC)
- ENST00000427716 8242 nts (view in UCSC)
- ENST00000472289 1629 nts (view in UCSC)
- ENST00000473513 559 nts (view in UCSC)
- ENST00000479023 535 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FGD4 - Starting at $85 >
- * FGD4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FGD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FGD4
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGD4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FGD4
- Browse OriGene Inhibitory RNA Products For FGD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD4
Clone products for research
- Applied Biological Materials (abm): Clones for FGD4 - Starting at $45 >
- * FGD4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG220026
- MG220124
- MG220461
- MR220026
- MR220026L3
- MR220026L4
- MR220124
- MR220124L3
- MR220124L4
- MR220461
- MR220461L3
- MR220461L4
- MR231097
- MR231319
- RC219442
- RC219442L3
- RC219442L4
- RG219442
- RR201280
- RR201280L3
- RR201280L4
- MR220026L3V
- MR220026L4V
- MR220124L3V
- MR220124L4V
- MR220461L3V
- MR220461L4V
- RC219442L3V
- RC219442L4V
- RR201280L3V
- RR201280L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FGD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FGD4
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for FGD4 Gene
- GeneLoc Exon Structure for
- FGD4
Expression for FGD4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
This gene is overexpressed in Stomach (15.0), Peripheral blood mononuclear cells (10.3), and Placenta (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FGD4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGD4
SOURCE GeneReport for Unigene cluster for FGD4 Gene:
Hs.117835mRNA Expression by UniProt/SwissProt for FGD4 Gene:
Q96M96-FGD4_HUMAN
Tissue specificity:
Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
Evidence on tissue expression from TISSUES for FGD4 Gene
- Liver(4.3)
- Nervous system(3.3)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FGD4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- head
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- foot
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for FGD4
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for FGD4 Gene
Orthologs for FGD4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FGD4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FGD4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FGD4 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Fgd4 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fgd4 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FGD4 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FGD4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FGD4 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FGD4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fgd4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fgd4a 30 31 |
|
OneToMany | |
| CABZ01078314.1 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGEF4 31 |
|
ManyToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | exc-5 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6211 31 |
|
OneToMany |
- Species where no ortholog for FGD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FGD4 Gene
- ENSEMBL:
- Gene Tree for FGD4 (if available)
- TreeFam:
- Gene Tree for FGD4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FGD4: view image
Paralogs for FGD4 Gene
Paralogs for FGD4 Gene
(6) SIMAP similar genes for FGD4 Gene using alignment to 13 proteins:
- FGD4_HUMAN
- B7Z493_HUMAN
- E9PJX4_HUMAN
- E9PNX0_HUMAN
- E9PQT1_HUMAN
- F8VVF1_HUMAN
- F8VWL3_HUMAN
- F8W1R0_HUMAN
- G3XA97_HUMAN
- H0YDQ0_HUMAN
- J3KSS3_HUMAN
- L8EAP1_HUMAN
- Q49A55_HUMAN
Variants for FGD4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGD4 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835639 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 32,582,264(+) |
G/A NM_139241.3(FGD4):c.397G>A (p.Asp133Asn) |
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
| 836490 | Pathogenic: Charcot-Marie-Tooth disease type 4 | 32,598,509(+) |
C/T NM_139241.3(FGD4):c.613C>T (p.Gln205Ter) |
NONSENSE,FIVE_PRIME_UTR | |
| 838462 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 32,608,043(+) |
G/T NM_139241.3(FGD4):c.1080G>T (p.Lys360Asn) |
MISSENSE | |
| 839901 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 32,582,440(+) |
G/T NM_139241.3(FGD4):c.573G>T (p.Glu191Asp) |
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
| 847739 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 32,625,052(+) |
T/G NM_139241.3(FGD4):c.1619T>G (p.Ile540Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2751096 | CNV | gain | 17911159 |
| esv3382704 | CNV | insertion | 20981092 |
| esv3581449 | CNV | gain | 25503493 |
| esv3629083 | CNV | loss | 21293372 |
| esv3629084 | CNV | loss | 21293372 |
| esv3629085 | CNV | gain | 21293372 |
| nsv1122716 | CNV | deletion | 24896259 |
| nsv473072 | CNV | novel sequence insertion | 20440878 |
| nsv527786 | CNV | gain | 19592680 |
| nsv951347 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.31;
95.33% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FGD4 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD4 Gene
Disorders for FGD4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, type 4h |
|
|
| neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
| tooth disease |
|
|
| charcot-marie-tooth disease |
|
|
| aarskog-scott syndrome |
|
|
Search FGD4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FGD4_HUMAN- Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311]: 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. {ECO:0000269 PubMed:17564959, ECO:0000269 PubMed:17564972}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for FGD4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for FGD4 Gene
Publications for FGD4 Gene
- Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. (PMID: 17564972) Stendel C … Senderek J (American journal of human genetics 2007) 3 4 23 74
- Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42. (PMID: 15133042) Chen XM … LaRusso NF (The Journal of biological chemistry 2004) 3 4 23
- Identification of splicing variants of Frabin with partly different functions and tissue distribution. (PMID: 11527409) Ikeda W … Takai Y (Biochemical and biophysical research communications 2001) 2 3 23
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. (PMID: 19332693) Fabrizi GM … De Jonghe P (Neurology 2009) 3 23
ExternalLinks
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Sources for FGD4 Gene
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