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 a... See more...

Aliases for FGD2 Gene

Aliases for FGD2 Gene

  • FYVE, RhoGEF And PH Domain Containing 2 2 3 5
  • ZFYVE4 2 3 4
  • FYVE, RhoGEF And PH Domain-Containing Protein 2 3 4
  • Zinc Finger FYVE Domain-Containing Protein 4 3 4
  • FGD1 Family, Member 2 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • FLJ00276 Protein 3
  • FGD2 5

External Ids for FGD2 Gene

Previous GeneCards Identifiers for FGD2 Gene

  • GC06U990176
  • GC06P036970
  • GC06P037020
  • GC06P037081
  • GC06P036973
  • GC06P036691
  • GC06P037132
  • GC06P037143
  • GC06P042832
  • GC06P043180
  • GC06P043372
  • GC06P046062
  • GC06P037801
  • GC06P038423
  • GC06P039013
  • GC06P039601
  • GC06P040161
  • GC06P041240
  • GC06P041919
  • GC06P042561

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. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGD2 Gene

Genomics for FGD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGD2 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 FGD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGD2

Top Transcription factor binding sites by QIAGEN in the FGD2 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • HOXA3
  • Ik-1
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a
  • Pax-5

Genomic Locations for FGD2 Gene

Genomic Locations for FGD2 Gene
chr6:37,005,646-37,029,072
(GRCh38/hg38)
Size:
23,427 bases
Orientation:
Plus strand
chr6:36,973,422-36,996,846
(GRCh37/hg19)
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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85129.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: May be due to an intron retention.

    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

Gene Families for FGD2 Gene

Protein Domains for FGD2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain
  • Zn-finger, FYVE type
ProtoNet:

Suggested Antigen Peptide Sequences for FGD2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger FYVE domain-containing protein 4 (FGD2_HUMAN)

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

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).
GENATLAS Biochemistry:
Rho GEF (guanine nucleotide exchange factor) 2,homolog of FGD1

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 ISS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA,IBA 21873635
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

CRISPR Products

miRNA for FGD2 Gene

miRTarBase miRNAs that target FGD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD2

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 IEA,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

SIGNOR curated interactions for FGD2 Gene

Activates:

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:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with FGD2: view

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

mRNA/cDNA for FGD2 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD2

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

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 and MOPED for FGD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGD2 30 31
  • 89.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGD2 30 31
  • 89.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fgd2 30 17 31
  • 83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgd2 30
  • 82.92 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FGD2 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FGD2 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGD2 31
  • 63 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii fgd 31
  • 33 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGEF4 31
  • 17 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea exc-5 30 31
  • 42.24 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6211 31
  • 36 (a)
OneToMany
Species where no ortholog for FGD2 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)
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FGD2: view image

Paralogs for FGD2 Gene

Paralogs for FGD2 Gene

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

  • FGD2_HUMAN
  • F8WEZ2_HUMAN
  • H7BY95_HUMAN
genes like me logo Genes that share paralogs with FGD2: view

Variants for FGD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGD2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
760822 Likely Benign: not provided 37,015,762(+) C/T INTRON_VARIANT
768085 Benign: not provided 37,008,946(+) G/A MISSENSE_VARIANT
769680 Benign: not provided 37,022,253(+) G/C MISSENSE_VARIANT
769681 Benign: not provided 37,025,839(+) C/T SYNONYMOUS_VARIANT
776126 Benign: not provided 37,013,723(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FGD2 Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD2 Gene

Disorders for FGD2 Gene

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 23
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  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

Products for FGD2 Gene

Sources for FGD2 Gene