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Aliases for FGD2 Gene

Aliases for FGD2 Gene

  • FYVE, RhoGEF And PH Domain Containing 2 2 3 5
  • Zinc Finger FYVE Domain-Containing Protein 4 3 4
  • FGD1 Family, Member 2 2 3
  • ZFYVE4 3 4
  • FYVE, RhoGEF And PH Domain-Containing Protein 2 3
  • FLJ00276 Protein 3

External Ids for FGD2 Gene

Previous GeneCards Identifiers for FGD2 Gene

  • GC06U990176
  • GC06P036970
  • GC06P037020
  • GC06P037081
  • GC06P036973
  • GC06P036691
  • GC06P037132
  • GC06P037143
  • GC06P037801
  • GC06P038423

Summaries for FGD2 Gene

Entrez Gene Summary 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 Signaling by GPCR and p75 NTR receptor-mediated signalling. 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).

Gene Wiki entry for FGD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD2 Gene

Genomics for FGD2 Gene

Regulatory Elements for FGD2 Gene

Enhancers for FGD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F037099 1.9 FANTOM5 Ensembl ENCODE 13.4 +98.0 98003 9.1 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 SSRP1 ZNF610 PIM1 FGD2 COX6A1P2 TBC1D22B TMEM217 CDKN1A RNF8 CMTR1 GC06P040027 RPL12P2
GH06F037081 1.7 FANTOM5 Ensembl ENCODE 14.9 +78.4 78355 4.4 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 NFYC MEF2D FGD2 PIM1 COX6A1P2 MTCH1 PPIL1 TMEM217 CDKN1A STK38 TBC1D22B SRSF3
GH06F037004 1.3 FANTOM5 ENCODE 17.9 +0.9 901 5.0 HDGF TBP HDAC1 WRNIP1 ZFP64 SIN3A ZNF2 ZNF366 CREM EGR2 FGD2 CDKN1A TMEM217 SRSF3 PIM1 CMTR1 COX6A1P2
GH06F037071 1.2 Ensembl ENCODE 16.5 +66.7 66655 2.2 ELF3 HDAC1 CBX3 DMAP1 ZSCAN9 RAD21 ZNF48 YY1 ZNF121 CBX5 FGD2 LAP3P2 RNU1-88P RN7SL285P RN7SL502P COX6A1P2 PIM1 MTCH1 TBC1D22B RAB44
GH06F037133 1.8 FANTOM5 Ensembl ENCODE 10.6 +132.7 132724 9.7 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC CMTR1 PIM1 COX6A1P2 TBC1D22B FGD2 PPIL1 RAB44 C6orf89 PI16 GC06P040027
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGD2 on UCSC Golden Path with GeneCards custom track

Promoters for FGD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001215676 1054 2201 TBP HDAC1 TBL1XR1 WRNIP1 SIN3A ZNF2 ZNF366 EGR2 MIER1 MIER2

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

Genes around FGD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for FGD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGD2 Gene

Post-translational modifications for FGD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGD2 Gene

No data available for DME Specific Peptides for FGD2 Gene

Domains & Families for FGD2 Gene

Suggested Antigen Peptide Sequences for FGD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z6J4

UniProtKB/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).
  • Contains 1 FYVE-type zinc finger.
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.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 2 PH domains.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with FGD2: view

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).

Gene Ontology (GO) - Molecular Function for FGD2 Gene

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 --
genes like me logo Genes that share ontologies with FGD2: view
genes like me logo Genes that share phenotypes with FGD2: view

Animal Models for FGD2 Gene

MGI Knock Outs for FGD2:

Animal Model Products

miRNA for FGD2 Gene

miRTarBase miRNAs that target FGD2

Inhibitory RNA Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGD2 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
plasma membrane 3
cytoskeleton 3
nucleus 3
endosome 3

Gene Ontology (GO) - Cellular Components for FGD2 Gene

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 --
genes like me logo Genes that share ontologies with FGD2: view

Pathways & Interactions for FGD2 Gene

genes like me logo Genes that share pathways with FGD2: view

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with FGD2: view

No data available for SIGNOR curated interactions for FGD2 Gene

Drugs & Compounds for FGD2 Gene

(1) Drugs for FGD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with FGD2: view

Transcripts for FGD2 Gene

Unigene Clusters for FGD2 Gene

FYVE, RhoGEF and PH domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGD2 Gene

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: - - - -

Relevant External Links for FGD2 Gene

GeneLoc Exon Structure for
FGD2
ECgene alternative splicing isoforms for
FGD2

Expression for FGD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGD2 Gene

This gene is overexpressed in Spleen (x11.9) and Whole Blood (x7.4).

Protein differential expression in normal tissues from HIPED for FGD2 Gene

This gene is overexpressed in Synovial fluid (19.6), Lymph node (15.5), Blymphocyte (11.6), and Peripheral blood mononuclear cells (6.4).

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:

FGD2

SOURCE GeneReport for Unigene cluster for FGD2 Gene:

Hs.509664
genes like me logo Genes that share expression patterns with FGD2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FGD2 Gene

Orthologs for FGD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGD2 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia FGD2 34 35
  • 89.21 (n)
cow
(Bos Taurus)
Mammalia FGD2 34 35
  • 89.16 (n)
mouse
(Mus musculus)
Mammalia Fgd2 34 16 35
  • 83 (n)
rat
(Rattus norvegicus)
Mammalia Fgd2 34
  • 82.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FGD2 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FGD2 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGD2 35
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fgd 35
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 35
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea exc-5 34 35
  • 42.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6211 35
  • 36 (a)
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)

Evolution for FGD2 Gene

ENSEMBL:
Gene Tree for FGD2 (if available)
TreeFam:
Gene Tree for FGD2 (if available)

Paralogs for FGD2 Gene

Paralogs for FGD2 Gene

(5) SIMAP similar genes for FGD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FGD2: view

Variants for FGD2 Gene

Sequence variations from dbSNP and Humsavar 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
rs1108280 -- 37,028,372(+) tctca(G/T)tttgc nc-transcript-variant, utr-variant-3-prime
rs111272151 -- 37,006,075(+) GTGAG(A/G)GTGCC intron-variant
rs111397105 -- 37,028,070(+) GAGAC(A/G)GAGGA nc-transcript-variant, reference, synonymous-codon
rs111403630 -- 37,007,188(+) TGATG(C/T)AAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FGD2 Gene

Variant ID Type Subtype PubMed ID
nsv950163 CNV deletion 24416366
nsv602952 CNV loss 21841781
nsv518386 CNV gain 19592680
nsv515488 CNV loss 19592680
nsv1015689 CNV gain 25217958

Variation tolerance for FGD2 Gene

Residual Variation Intolerance Score: 71.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.83% of all genes are more intolerant (likely to be disease-causing)

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

  1. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. 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

Sources for FGD2 Gene

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