Aliases for FGD6 Gene

Aliases for FGD6 Gene

  • FYVE, RhoGEF And PH Domain Containing 6 2 3 5
  • ZFYVE24 2 3 4
  • FYVE, RhoGEF And PH Domain-Containing Protein 6 3 4
  • Zinc Finger FYVE Domain-Containing Protein 24 3 4
  • FLJ11183 2
  • KIAA1362 4
  • FGD6 5

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 Summary 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).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGD6 Gene

Genomics for FGD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGD6 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 FGD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGD6

Top Transcription factor binding sites by QIAGEN in the FGD6 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXJ2
  • FOXJ2 (long isoform)
  • LCR-F1
  • Pbx1a

Genomic Locations for FGD6 Gene

Latest Assembly
chr12:95,076,749-95,217,482
(GRCh38/hg38)
Size:
140,734 bases
Orientation:
Minus strand

Previous Assembly
chr12:95,470,525-95,611,243
(GRCh37/hg19 by Entrez Gene)
Size:
140,719 bases
Orientation:
Minus strand

chr12:95,470,525-95,611,258
(GRCh37/hg19 by Ensembl)
Size:
140,734 bases
Orientation:
Minus strand

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; 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

Gene Families for FGD6 Gene

Protein Domains for FGD6 Gene

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

Suggested Antigen Peptide Sequences for FGD6 Gene

GenScript: Design optimal peptide antigens:
  • FGD6 protein (A4FVC4_HUMAN)
  • Zinc finger FYVE domain-containing protein 24 (FGD6_HUMAN)
genes like me logo Genes that share domains with FGD6: view

No data available for Graphical View of Domain Structure and 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 IEA,ISS --
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD6

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
plasma membrane 1
extracellular 1
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 IEA,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

PathCards logo

SuperPathways 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:0043087 regulation of GTPase activity IEA,ISS --
GO:0046847 filopodium assembly 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

mRNA/cDNA for FGD6 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD6

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

No ASD Table

Relevant External Links for FGD6 Gene

GeneLoc Exon Structure for
FGD6

Expression for FGD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FGD6 Gene



Protein tissue co-expression partners for FGD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGD6

SOURCE GeneReport for Unigene cluster for FGD6 Gene:

Hs.506381

Evidence on tissue expression from TISSUES for FGD6 Gene

  • Heart(4.4)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with FGD6: view

Primer products for research

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 29 30
  • 99.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGD6 29 30
  • 89.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGD6 29 30
  • 87.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fgd6 29 16 30
  • 80.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgd6 29
  • 79.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia FGD6 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FGD6 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FGD6 29 30
  • 67.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGD6 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgd6 29
  • 75.54 (n)
Str.19905 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.13659 29
Zebrafish
(Danio rerio)
Actinopterygii fgd6 29 30
  • 55.64 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7916 29
Species where no ortholog for FGD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FGD6: view image
Alliance of Genome Resources:
Additional Orthologs for FGD6

Paralogs for FGD6 Gene

Paralogs for FGD6 Gene

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

  • FGD6_HUMAN
  • A4FVC4_HUMAN
  • F8VQX5_HUMAN
  • F8VWT6_HUMAN
  • F8VY01_HUMAN
  • H0YI21_HUMAN
genes like me logo Genes that share paralogs with FGD6: view

Variants for FGD6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGD6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs141232857 Benign: not provided 95,210,601(-) G/T
NM_018351.4(FGD6):c.683C>A (p.Ser228Tyr)
MISSENSE
rs191808719 Benign: not provided 95,152,845(-) T/A
NM_018351.4(FGD6):c.2655-4A>T
INTRON
rs78481495 Benign: not provided 95,210,076(-) G/A
NM_018351.4(FGD6):c.1208C>T (p.Ala403Val)
MISSENSE
rs79252275 Benign: not provided 95,141,380(-) A/C
NM_018351.4(FGD6):c.2837+8T>G
INTRON
rs10507047 -- p.Gln257Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FGD6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
FGD6

SNP Genotyping and Copy Number Assays for research

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: COP

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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  4. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3

Products for FGD6 Gene

Sources for FGD6 Gene