Aliases for FGD2 Gene
Aliases for FGD2 Gene
External Ids for FGD2 Gene
- HGNC: 3664
- Entrez Gene: 221472
- Ensembl: ENSG00000146192
- OMIM: 605091
- UniProtKB: Q7Z6J4
Previous GeneCards Identifiers for FGD2 Gene
- GC06U990176
- GC06P036970
- GC06P037020
- GC06P037081
- GC06P036973
- GC06P036691
- GC06P037132
- GC06P037143
- GC06P037801
- GC06P038423
- GC06P039013
Summaries for FGD2 Gene
-
The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]
GeneCards Summary for FGD2 Gene
FGD2 (FYVE, RhoGEF And PH Domain Containing 2) is a Protein Coding gene. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and small GTPase binding. An important paralog of this gene is FGD4.
UniProtKB/Swiss-Prot for FGD2 Gene
-
Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (By similarity).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD2 Gene
Genomics for FGD2 Gene
Regulatory Elements for FGD2 Gene
- Transcription factor binding sites by QIAGEN in the FGD2 gene promoter:
Regulatory Element Products
Genomic Location for FGD2 Gene
- Chromosome:
- 6
- Start:
- 37,005,646 bp from pter
- End:
- 37,029,070 bp from pter
- Size:
- 23,425 bases
- Orientation:
- Plus strand
Genomic View for FGD2 Gene
- Cytogenetic band:
-
- 6p21.2 by Ensembl
- 6p21.2 by Entrez Gene
- 6p21.2 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FGD2 Gene
Proteins for FGD2 Gene
-
Protein details for FGD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z6J4-FGD2_HUMAN
- Recommended name:
- FYVE, RhoGEF and PH domain-containing protein 2
- Protein Accession:
- Q7Z6J4
- Q5T8I1
- Q6P6A8
- Q6ZNL5
- Q8IZ32
- Q8N868
- Q9H7M2
Protein attributes for FGD2 Gene
- Size:
- 655 amino acids
- Molecular mass:
- 74892 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAB15746.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85129.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC85129.1; Type=Frameshift; Positions=460; Evidence={ECO:0000305}; Sequence=CAI20471.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for FGD2 Gene
Post-translational modifications for FGD2 Gene
Other Protein References for FGD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FGD2
-
Abcam antibodies for FGD2
- Invitrogen Antibodies for FGD2
- antibodies-online Antibodies for FGD2: See all 21
- Search GeneTex for Antibodies for FGD2
Protein Products
-
OriGene Purified Proteins for FGD2
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- antibodies-online Proteins for FGD2: See all 5
- Search antibodies-online for peptides
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-
Abcam proteins for FGD2
Assay Products
No data available for DME Specific Peptides for FGD2 Gene
Domains & Families for FGD2 Gene
Gene Families for FGD2 Gene
Protein Domains for FGD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FGD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q7Z6J4UniProtKB/Swiss-Prot:
FGD2_HUMAN :- The FYVE-type zinc-finger is necessary for early endosome localization. Recruitment to endosomal membranes via this domain requires the presence of phosphatidylinositol 3-phosphate or other phosphatidylinositides (By similarity).
- Domain:
-
- The FYVE-type zinc-finger is necessary for early endosome localization. Recruitment to endosomal membranes via this domain requires the presence of phosphatidylinositol 3-phosphate or other phosphatidylinositides (By similarity).
- The PH domain is necessary for localization to the ruffle membrane. Recruitment to ruffle membrane occurs through binding of phosphoinositides by the PH domain. This domain also contributes to the lipid-binding properties of the protein (By similarity).
- The DH domain is necessary for its ability to activate JNK1 via CDC42.
Function for FGD2 Gene
Molecular function for FGD2 Gene
- GENATLAS Biochemistry:
- Rho GEF (guanine nucleotide exchange factor) 2,homolog of FGD1
- 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. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005089 | Rho guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0031267 | small GTPase binding | ISS | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for FGD2 Gene
- MGI mutant phenotypes for FGD2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FGD2:
Animal Models for FGD2 Gene
- MGI Knock Outs for FGD2:
-
- Fgd2 tm1Bgh
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FGD2 gene
-
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CRISPR Products
-
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-
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miRNA for FGD2 Gene
- miRTarBase miRNAs that target FGD2
miRNA Products
- Search ViGene Biosciences for FGD2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FGD2
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-
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Clone Products
- Sino Biological Human cDNA Clone for FGD2
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Cell Line Products
-
Horizon Cell Lines for FGD2
-
ViGene Biosciences adenoviral particle packaged cDNA for FGD2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FGD2 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FGD2 Gene
Localization for FGD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FGD2 Gene
- Cytoplasm, cytoskeleton. Cytoplasm. Nucleus. Early endosome. Early endosome membrane. Cell projection, ruffle membrane. Note=Recruitment to the endosome and ruffle membrane requires the presence of phosphoinositides. {ECO:0000250}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | ISS | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA | -- |
Pathways & Interactions for FGD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | Signaling by GPCR | ||
| 3 | Signaling by Rho GTPases | ||
| 4 | RET signaling | ||
Pathways by source for FGD2 Gene
Interacting Proteins for FGD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007010 | cytoskeleton organization | ISS | -- |
| GO:0008360 | regulation of cell shape | ISS | -- |
| GO:0030036 | actin cytoskeleton organization | ISS | -- |
| GO:0035023 | regulation of Rho protein signal transduction | IEA | -- |
| GO:0043065 | positive regulation of apoptotic process | TAS | -- |
No data available for SIGNOR curated interactions for FGD2 Gene
Drugs & Compounds for FGD2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
Transcripts for FGD2 Gene
mRNA/cDNA for FGD2 Gene
- (4) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (49) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FGD2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FGD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGD2
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miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FGD2
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-
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Clone Products
- Sino Biological Human cDNA Clone for FGD2
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - |
Expression for FGD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epithelial Cells
- Dental Placode Cells Dental Placode
-
Spleen (Hematopoietic System)
-
Tonsil (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for FGD2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGD2 Gene
NURSA nuclear receptor signaling pathways regulating expression of FGD2 Gene:
FGD2SOURCE GeneReport for Unigene cluster for FGD2 Gene:
Hs.509664Evidence on tissue expression from TISSUES for FGD2 Gene
- Spleen(4.4)
- Liver(4.2)
- Blood(4.1)
Primer Products
-
OriGene qPCR primer pairs and template standards for FGD2
-
OriGene qPCR primer pairs for FGD2
No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FGD2 Gene
Orthologs for FGD2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FGD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FGD2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FGD2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fgd2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fgd2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FGD2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FGD2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FGD2 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | fgd 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | RhoGEF4 35 |
|
ManyToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | exc-5 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6211 35 |
|
OneToMany |
- Species where no ortholog for FGD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- chicken (Gallus gallus)
- 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 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for FGD2 Gene
Variants for FGD2 Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs193921018 | Uncertain significance | 37,014,707(+) | ATGGT(A/C)AGCAG | intron-variant | |
| rs1000463048 | -- | 37,003,898(+) | TATGG(A/G)TAATG | upstream-variant-2KB | |
| rs1000791049 | -- | 37,006,956(+) | GACAA(A/G)AGACT | intron-variant | |
| rs1001133133 | -- | 37,013,025(+) | ATATT(A/T)TTTTT | intron-variant, nc-transcript-variant, upstream-variant-2KB | |
| rs1001260623 | -- | 37,023,737(+) | ATCCC(A/G)AAGCC | intron-variant |
Relevant External Links for FGD2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FGD2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD2 Gene
Disorders for FGD2 Gene
Relevant External Links for FGD2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FGD2
No disorders were found for FGD2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FGD2 Gene
Publications for FGD2 Gene
- Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. (PMID: 10458911) Pasteris N.G. … Gorski J.L. (Genomics 1999) 2 3 22 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
- Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A. … Ohara O. (DNA Res. 2000) 3 4 64
Products for FGD2 Gene
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- antibodies-online Antibodies for FGD2: See all 21
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FGD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




