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Aliases for FGGY Gene

Aliases for FGGY Gene

  • FGGY Carbohydrate Kinase Domain Containing 2 3 5
  • EC 2.7.1.- 4
  • EC 2.7.1 63

External Ids for FGGY Gene

Previous GeneCards Identifiers for FGGY Gene

  • GC01P059535
  • GC01P059762
  • GC01P057873

Summaries for FGGY Gene

Entrez Gene Summary for FGGY Gene

  • This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for FGGY Gene

FGGY (FGGY Carbohydrate Kinase Domain Containing) is a Protein Coding gene. Diseases associated with FGGY include lateral sclerosis and amyotrophic lateral sclerosis 1. GO annotations related to this gene include kinase activity and phosphotransferase activity, alcohol group as acceptor.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGGY Gene

Genomics for FGGY Gene

Regulatory Elements for FGGY Gene

Promoters for FGGY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FGGY on UCSC Golden Path with GeneCards custom track

Genomic Location for FGGY Gene

Chromosome:
1
Start:
59,296,405 bp from pter
End:
59,810,647 bp from pter
Size:
514,243 bases
Orientation:
Plus strand

Genomic View for FGGY Gene

Genes around FGGY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FGGY Gene

Proteins for FGGY Gene

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

    Protein Symbol:
    Q96C11-FGGY_HUMAN
    Recommended name:
    FGGY carbohydrate kinase domain-containing protein
    Protein Accession:
    Q96C11
    Secondary Accessions:
    • B1AK92
    • B1AK93
    • B1AK94
    • B2RDR8
    • D3DQ56
    • Q9HA63
    • Q9NV20

    Protein attributes for FGGY Gene

    Size:
    551 amino acids
    Molecular mass:
    59993 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14947.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FGGY Gene

neXtProt entry for FGGY Gene

Proteomics data for FGGY Gene at MOPED

Selected DME Specific Peptides for FGGY Gene

Post-translational modifications for FGGY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for FGGY Gene

Protein Domains for FGGY Gene

Graphical View of Domain Structure for InterPro Entry

Q96C11

UniProtKB/Swiss-Prot:

FGGY_HUMAN :
  • Belongs to the FGGY kinase family.
Family:
  • Belongs to the FGGY kinase family.
genes like me logo Genes that share domains with FGGY: view

No data available for Gene Families for FGGY Gene

Function for FGGY Gene

Enzyme Numbers (IUBMB) for FGGY Gene

genes like me logo Genes that share phenotypes with FGGY: view

Animal Model Products

CRISPR Products

miRNA for FGGY Gene

miRTarBase miRNAs that target FGGY

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FGGY Gene

Localization for FGGY Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGGY Gene COMPARTMENTS Subcellular localization image for FGGY gene
Compartment Confidence
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FGGY Gene

Pathways & Interactions for FGGY Gene

SuperPathways for FGGY Gene

No Data Available

Interacting Proteins for FGGY Gene

Gene Ontology (GO) - Biological Process for FGGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
genes like me logo Genes that share ontologies with FGGY: view

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

Drugs & Compounds for FGGY Gene

No Compound Related Data Available

Transcripts for FGGY Gene

Unigene Clusters for FGGY Gene

FGGY carbohydrate kinase domain containing:
Representative Sequences:

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

No ASD Table

Relevant External Links for FGGY Gene

GeneLoc Exon Structure for
FGGY
ECgene alternative splicing isoforms for
FGGY

Expression for FGGY Gene

mRNA expression in normal human tissues for FGGY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGGY Gene

This gene is overexpressed in Liver (x9.9).

Protein differential expression in normal tissues from HIPED for FGGY Gene

This gene is overexpressed in Liver (23.0), Adrenal (6.6), and Stomach (6.2).

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



SOURCE GeneReport for Unigene cluster for FGGY Gene Hs.444301

mRNA Expression by UniProt/SwissProt for FGGY Gene

Q96C11-FGGY_HUMAN
Tissue specificity: Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level).
genes like me logo Genes that share expression patterns with FGGY: view

Protein tissue co-expression partners for FGGY Gene

Primer Products

In Situ Assay Products

Orthologs for FGGY Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FGGY Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FGGY 35
  • 90.36 (n)
  • 92.36 (a)
FGGY 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGGY 35
  • 90.62 (n)
  • 92.74 (a)
FGGY 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fggy 35
  • 88.16 (n)
  • 91.44 (a)
Fggy 16
Fggy 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGGY 35
  • 99.4 (n)
  • 99.27 (a)
FGGY 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fggy 35
  • 87.37 (n)
  • 91.26 (a)
chicken
(Gallus gallus)
Aves FGGY 35
  • 75.9 (n)
  • 77.78 (a)
FGGY 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGGY 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fggy 35
  • 69.98 (n)
  • 73.16 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19740 35
fggy 35
  • 62.41 (n)
  • 63.15 (a)
fggy 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005956 35
  • 54.84 (n)
  • 52.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11594 35
  • 54.98 (n)
  • 50 (a)
CG11594 36
  • 49 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR092W 35
  • 48.39 (n)
  • 41.32 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19041g 35
  • 50.4 (n)
  • 45.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR109C 35
  • 49.13 (n)
  • 42.36 (a)
-- 36
  • 32 (a)
OneToOne
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30310 35
  • 53.83 (n)
  • 50.18 (a)
rice
(Oryza sativa)
Liliopsida Os02g0177900 35
  • 56.89 (n)
  • 53.29 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01701 35
  • 50.34 (n)
  • 43.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for FGGY:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGGY Gene

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

Paralogs for FGGY Gene

(1) SIMAP similar genes for FGGY Gene using alignment to 4 proteins:

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

No data available for Paralogs for FGGY Gene

Variants for FGGY Gene

Sequence variations from dbSNP and Humsavar for FGGY Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11207463 -, - 59,512,376(+) GAGAC(C/G)TTGGC nc-transcript-variant, reference, missense
rs835409 - 59,321,678(+) AAGAA(G/T)TGGGA nc-transcript-variant, reference, missense
rs585368 -- 59,408,410(-) GCAAA(A/G)GGTGT intron-variant
rs592484 -- 59,503,591(+) GGTGT(C/T)GCCat intron-variant
rs585896 -- 59,489,386(-) cagag(A/T)atggt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829982 CNV Loss 17160897
esv2748874 CNV Deletion 23290073
esv2748885 CNV Deletion 23290073
esv271999 CNV Insertion 20981092
esv273066 CNV Insertion 20981092
nsv870485 CNV Loss 21882294
esv1430411 CNV Insertion 17803354
nsv461639 CNV Loss 19166990
nsv523577 CNV Loss 19592680
nsv1043 CNV Loss 18451855
nsv871532 CNV Gain 21882294
esv2657989 CNV Deletion 23128226
esv2421406 CNV Deletion 20811451
nsv441695 CNV CNV 18776908
nsv822887 CNV Loss 20364138
esv2675145 CNV Deletion 23128226
esv28159 CNV Loss 19812545
esv994342 CNV Loss 20482838
esv2674836 CNV Deletion 23128226
dgv44n67 CNV Loss 20364138
esv1008172 CNV Loss 20482838
nsv822921 CNV Loss 20364138
nsv819226 CNV Gain 19587683
nsv820893 CNV Deletion 20802225
esv22806 CNV Gain 19812545
dgv45n67 CNV Gain 20364138
esv2663896 CNV Deletion 23128226
nsv829993 CNV Loss 17160897

Variation tolerance for FGGY Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.84; 89.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGGY Gene

HapMap Linkage Disequilibrium report
FGGY

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

Disorders for FGGY Gene

MalaCards: The human disease database

(2) MalaCards diseases for FGGY Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lateral sclerosis
  • motor neuron disease
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search FGGY in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGGY_HUMAN
  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:17671248}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for FGGY

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

No data available for Genatlas for FGGY Gene

Publications for FGGY Gene

  1. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. (PMID: 17671248) Dunckley T. … Stephan D.A. (N. Engl. J. Med. 2007) 2 3 4 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Single-nucleotide polymorphism rs6690993 in FGGY is not associated with amyotrophic lateral sclerosisin a large Chinese cohort. (PMID: 24439956) Cai B. … Fan D. (Neurobiol. Aging 2014) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PMID: 19464757) FernA!ndez-Santiago R. … Gasser T. (Neurobiol. Aging 2011) 3

Products for FGGY Gene

Sources for FGGY Gene

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