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Aliases for FGD2 Gene

Aliases for FGD2 Gene

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

External Ids for FGD2 Gene

Previous GeneCards Identifiers for FGD2 Gene

  • GC06U990176
  • GC06P036970
  • GC06P037020
  • GC06P037081
  • GC06P036973
  • GC06P036691
  • GC06P037132

Summaries for FGD2 Gene

GeneCards Summary for FGD2 Gene

FGD2 (FYVE, RhoGEF And PH Domain Containing 2) is a Protein Coding gene. Diseases associated with FGD2 include glucocorticoid deficiency 2. Among its related pathways are Signaling by GPCR and Interleukin receptor SHC signaling. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and small GTPase binding. An important paralog of this gene is FGD1.

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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD2 Gene

Genomics for FGD2 Gene

Regulatory Elements for FGD2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FGD2 Gene at MOPED

Post-translational modifications for FGD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGD2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for FGD2 Gene COMPARTMENTS Subcellular localization image for FGD2 gene
Compartment Confidence
cytosol 4
golgi apparatus 4
cytoskeleton 3
endosome 3
nucleus 3
plasma membrane 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:0005794 Golgi apparatus ISS --
GO:0005829 cytosol TAS --
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

Pathways by source for FGD2 Gene

Gene Ontology (GO) - Biological Process for FGD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007264 small GTPase mediated signal transduction 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGD2

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 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



SOURCE GeneReport for Unigene cluster for FGD2 Gene Hs.509664

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

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia FGD2 35
  • 89.16 (n)
  • 88.4 (a)
FGD2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGD2 35
  • 89.21 (n)
  • 88.09 (a)
FGD2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgd2 35
  • 83 (n)
  • 81.82 (a)
Fgd2 16
Fgd2 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGD2 35
  • 99.64 (n)
  • 99.39 (a)
FGD2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgd2 35
  • 82.92 (n)
  • 82.87 (a)
oppossum
(Monodelphis domestica)
Mammalia FGD2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGD2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGD2 36
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fgd 36
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 36
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea exc-5 35
  • 42.24 (n)
  • 31.77 (a)
exc-5 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6211 36
  • 36 (a)
OneToMany
Species with no ortholog for FGD2:
  • 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 MAF
rs708016 -- 37,029,064(-) CCTGG(C/T)CCAAT utr-variant-3-prime
rs708017 -- 37,028,997(-) CATTG(C/G)TTGTG utr-variant-3-prime
rs753035 -- 37,017,380(+) AAAAC(A/C)TTTCT intron-variant
rs831492 -- 37,016,796(-) acttt(A/G)ggagg intron-variant
rs831493 -- 37,015,269(-) CTCTG(C/T)TGCTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv885815 CNV Loss 21882294
nsv518386 CNV Gain 19592680
nsv885816 CNV Loss 21882294
nsv515488 CNV Loss 19592680

Variation tolerance for FGD2 Gene

Residual Variation Intolerance Score: 71.42% 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

HapMap Linkage Disequilibrium report
FGD2

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

Disorders for FGD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FGD2 Gene - From: OMIM

Disorder Aliases PubMed IDs
glucocorticoid deficiency 2
  • familial glucocorticoid deficiency 2
- elite association
Search FGD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FGD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGD2
genes like me logo Genes that share disorders with FGD2: view

No data available for 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 23 67
  2. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. (PMID: 10721717) Pasteris N.G. … Gorski J.L. (Gene 2000) 23 67
  3. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 67
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67

Products for FGD2 Gene

Sources for FGD2 Gene

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