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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
  • GC06P039013
  • GC06P039601
  • GC06P040161

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 p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (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

Additional gene information for FGD2 Gene

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

Genomics for FGD2 Gene

GeneHancer (GH) Regulatory Elements for FGD2 Gene

Promoters and enhancers for FGD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I037004 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567.9 +0.9 900 5 HDGF HDAC1 IRF4 ZNF366 ZNF143 ATF7 RUNX3 EGR2 SMARCA5 PHF21A FGD2 CDKN1A TMEM217 SRSF3 PIM1 CMTR1 COX6A1P2
GH06I036884 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 22.2 -118.3 -118305 4.9 CLOCK DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC MEF2D C6orf89 PPIL1 CMTR1 SRSF3 FGD2 CDKN1A RAB44 MTCH1 BRPF3 TBC1D22B
GH06I036592 Promoter/Enhancer 3.2 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 -408.2 -408227 10.7 CLOCK MLX ZFP64 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SRSF3 KCTD20 MAPK14 CDKN1A RAB44 STK38 BRPF3 FKBP5 ETV7 RNF8
GH06I037168 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.4 +167.5 167547 10.2 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 PIM1 SRSF3 CMTR1 BRPF3 STK38 COX6A1P2 FGD2 MTCH1 TBC1D22B PIR49359
GH06I037101 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +98.9 98949 7.2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF263 SP3 SSRP1 ZNF610 PIM1 FGD2 COX6A1P2 TBC1D22B SRSF3 TMEM217 RNF8 CDKN1A CMTR1 RPL12P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FGD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FGD2 gene promoter:

Genomic Locations for FGD2 Gene

Genomic Locations for FGD2 Gene
chr6:37,005,646-37,029,070
(GRCh38/hg38)
Size:
23,425 bases
Orientation:
Plus strand
chr6:36,973,422-36,996,846
(GRCh37/hg19)

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

No Post-translational modifications

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).
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.
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).

Phenotypes From GWAS Catalog for FGD2 Gene

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

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGD2 Gene

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:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0008360 regulation of cell shape ISS --
GO:0030036 actin cytoskeleton organization ISS --
GO:0035023 regulation of Rho protein signal transduction IEA --
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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for FGD2 Gene

  • Spleen(4.4)
  • Liver(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with FGD2: view

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.

Orthologs for FGD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGD2 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia FGD2 33 34
  • 89.21 (n)
cow
(Bos Taurus)
Mammalia FGD2 33 34
  • 89.16 (n)
mouse
(Mus musculus)
Mammalia Fgd2 33 16 34
  • 83 (n)
rat
(Rattus norvegicus)
Mammalia Fgd2 33
  • 82.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FGD2 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FGD2 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGD2 34
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fgd 34
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 34
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea exc-5 33 34
  • 42.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6211 34
  • 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 Variation AA Info Type
rs193921018 uncertain-significance, Malignant tumor of prostate 37,014,707(+) A/C intron_variant
rs1000463048 -- 37,003,898(+) G/A upstream_transcript_variant
rs1000791049 -- 37,006,956(+) G/A genic_upstream_transcript_variant, intron_variant
rs1001133133 -- 37,013,025(+) A/T genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1001260623 -- 37,023,737(+) G/A genic_downstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for 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 NG … Gorski JL (Genomics 1999) 2 3 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58

Products for FGD2 Gene

Sources for FGD2 Gene

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