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Aliases for FGD6 Gene

Aliases for FGD6 Gene

  • FYVE, RhoGEF And PH Domain Containing 6 2 3 5
  • Zinc Finger FYVE Domain-Containing Protein 24 3 4
  • ZFYVE24 3 4
  • FYVE, RhoGEF And PH Domain-Containing Protein 6 3
  • KIAA1362 4

External Ids for FGD6 Gene

Previous GeneCards Identifiers for FGD6 Gene

  • GC12M093976
  • GC12M095470
  • GC12M092538

Summaries for FGD6 Gene

GeneCards Summary for FGD6 Gene

FGD6 (FYVE, RhoGEF And PH Domain Containing 6) is a Protein Coding gene. Diseases associated with FGD6 include Aarskog-Scott Syndrome. 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 FGD5.

UniProtKB/Swiss-Prot for FGD6 Gene

  • May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity).

Additional gene information for FGD6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD6 Gene

Genomics for FGD6 Gene

GeneHancer (GH) Regulatory Elements for FGD6 Gene

Promoters and enhancers for FGD6 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
GH12I095211 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563 +1.3 1285 8.7 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D FGD6 VEZT METAP2 USP44 GC12P095210
GH12I095114 Enhancer 1.2 Ensembl ENCODE dbSUPER 37.9 +100.4 100444 5.7 ZSCAN4 ZNF2 RAD21 RFX5 ZNF213 ARID2 ZNF366 ATF7 MIXL1 ZNF654 FGD6 VEZT NDUFA12 RPL14P4 GC12P095101
GH12I095102 Enhancer 1.4 Ensembl ENCODE dbSUPER 22 +114.0 114005 2.1 PKNOX1 SMAD1 SIN3A FEZF1 IRF4 ZNF213 ELK1 ATF7 KLF7 FOS FGD6 VEZT CEP83 RNU6-808P GC12P095101 RPL14P4
GH12I095172 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.1 +43.8 43809 2.1 PKNOX1 ATF1 ZNF133 SIN3A TCF12 ZNF766 GATA2 ATF7 NCOA1 REST FGD6 VEZT NDUFA12 GC12P095210 RPL14P4
GH12I095187 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.6 +29.5 29458 1.8 MEIS2 PKNOX1 USF1 ZBTB21 JUN CEBPG IRF9 HIC1 FOSL1 ZNF316 FGD6 VEZT GC12P095210 RPL14P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FGD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FGD6 gene promoter:

Genomic Locations for FGD6 Gene

Genomic Locations for FGD6 Gene
chr12:95,076,749-95,217,482
(GRCh38/hg38)
Size:
140,734 bases
Orientation:
Minus strand
chr12:95,470,525-95,611,258
(GRCh37/hg19)

Genomic View for FGD6 Gene

Genes around FGD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGD6 Gene

Proteins for FGD6 Gene

  • Protein details for FGD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZV73-FGD6_HUMAN
    Recommended name:
    FYVE, RhoGEF and PH domain-containing protein 6
    Protein Accession:
    Q6ZV73
    Secondary Accessions:
    • Q6ZR53
    • Q7Z2Z7
    • Q96D44
    • Q9NUR8
    • Q9P2I5

    Protein attributes for FGD6 Gene

    Size:
    1430 amino acids
    Molecular mass:
    160816 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92052.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92600.1; Type=Frameshift; Positions=1365; Evidence={ECO:0000305}; Sequence=BAC87464.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD98096.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for FGD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGD6 Gene

Post-translational modifications for FGD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGD6 Gene

No data available for DME Specific Peptides for FGD6 Gene

Domains & Families for FGD6 Gene

Suggested Antigen Peptide Sequences for FGD6 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FGD6: view

No data available for UniProtKB/Swiss-Prot for FGD6 Gene

Function for FGD6 Gene

Molecular function for FGD6 Gene

UniProtKB/Swiss-Prot Function:
May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity).

Phenotypes From GWAS Catalog for FGD6 Gene

Gene Ontology (GO) - Molecular Function for FGD6 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:0031267 small GTPase binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FGD6: view
genes like me logo Genes that share phenotypes with FGD6: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FGD6 Gene

Localization for FGD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGD6 Gene

Cytoplasm. Cytoplasm, cytoskeleton.

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 FGD6 gene
Compartment Confidence
golgi apparatus 4
cytoskeleton 3
nucleus 3
cytosol 3
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FGD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005856 cytoskeleton IEA --
GO:0030027 lamellipodium ISS --
genes like me logo Genes that share ontologies with FGD6: view

Pathways & Interactions for FGD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FGD6 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:0043087 regulation of GTPase activity ISS --
genes like me logo Genes that share ontologies with FGD6: view

No data available for Pathways by source and SIGNOR curated interactions for FGD6 Gene

Drugs & Compounds for FGD6 Gene

(1) Drugs for FGD6 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 FGD6: view

Transcripts for FGD6 Gene

Unigene Clusters for FGD6 Gene

FYVE, RhoGEF and PH domain containing 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGD6 Gene

No ASD Table

Relevant External Links for FGD6 Gene

GeneLoc Exon Structure for
FGD6
ECgene alternative splicing isoforms for
FGD6

Expression for FGD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FGD6 Gene

This gene is overexpressed in Urine (58.1) and Bone marrow mesenchymal stem cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FGD6 Gene



Protein tissue co-expression partners for FGD6 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGD6 Gene:

FGD6

SOURCE GeneReport for Unigene cluster for FGD6 Gene:

Hs.506381

Evidence on tissue expression from TISSUES for FGD6 Gene

  • Heart(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FGD6: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FGD6 Gene

Orthologs for FGD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGD6 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia FGD6 33 34
  • 89.18 (n)
cow
(Bos Taurus)
Mammalia FGD6 33 34
  • 87.64 (n)
mouse
(Mus musculus)
Mammalia Fgd6 33 16 34
  • 80.02 (n)
rat
(Rattus norvegicus)
Mammalia Fgd6 33
  • 79.77 (n)
oppossum
(Monodelphis domestica)
Mammalia FGD6 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGD6 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGD6 33 34
  • 67.56 (n)
lizard
(Anolis carolinensis)
Reptilia FGD6 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgd6 33
  • 75.54 (n)
Str.19905 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13659 33
zebrafish
(Danio rerio)
Actinopterygii fgd6 33 34
  • 55.64 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7916 33
Species where no ortholog for FGD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGD6 Gene

ENSEMBL:
Gene Tree for FGD6 (if available)
TreeFam:
Gene Tree for FGD6 (if available)

Paralogs for FGD6 Gene

Paralogs for FGD6 Gene

(5) SIMAP similar genes for FGD6 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FGD6: view

Variants for FGD6 Gene

Sequence variations from dbSNP and Humsavar for FGD6 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000009001 -- 95,139,344(-) G/A intron_variant
rs1000009785 -- 95,185,148(-) A/G intron_variant
rs1000035307 -- 95,127,331(-) G/A intron_variant
rs1000056515 -- 95,087,746(-) C/G intron_variant
rs1000067534 -- 95,216,486(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FGD6 Gene

Variant ID Type Subtype PubMed ID
esv2746232 CNV deletion 23290073
esv2762998 CNV gain 21179565
esv3396190 CNV insertion 20981092
esv3630427 CNV loss 21293372
esv3630428 CNV loss 21293372
esv3630429 CNV loss 21293372
nsv1040859 CNV gain 25217958
nsv526515 CNV loss 19592680
nsv53566 CNV deletion 16902084
nsv7234 OTHER inversion 18451855
nsv952466 CNV duplication 24416366
nsv957918 CNV deletion 24416366

Variation tolerance for FGD6 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.09; 75.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGD6 Gene

Human Gene Mutation Database (HGMD)
FGD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGD6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD6 Gene

Disorders for FGD6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FGD6 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
aarskog-scott syndrome
  • aas
- elite association - COSMIC cancer census association via MalaCards
Search FGD6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FGD6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FGD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FGD6 Gene

Publications for FGD6 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for FGD6 Gene

Sources for FGD6 Gene

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