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Aliases for FGGY Gene

Aliases for FGGY Gene

  • FGGY Carbohydrate Kinase Domain Containing 2 3 5
  • FGGY Carbohydrate Kinase Domain-Containing Protein 3
  • D-Ribulokinase 3
  • EC 2.7.1.- 4
  • EC 2.7.1 58

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.

Additional gene information for FGGY Gene

No data available for CIViC summary , 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

Enhancers for FGGY Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H059669 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18 +375.9 375906 6 FOXA2 ARID4B YY1 FOS REST KAT8 NFIL3 MIER3 ZNF585B RCOR2 FGGY MIR4711 GC01P059473
GH01H058880 2 FANTOM5 Ensembl ENCODE dbSUPER 14.9 -412.0 -411968 7 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 LINC01135 FGGY MYSM1 JUN LOC105378753 PIR58695 GC01M058846
GH01H059549 1.5 FANTOM5 Ensembl ENCODE 18.4 +253.8 253769 1 FOXA2 ZSCAN4 FEZF1 RAD21 YY1 ATF7 CREM THAP11 CEBPB ZEB2 FGGY ENSG00000272226 GC01P059473 MIR4711
GH01H059289 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14 -4.5 -4523 4 HDGF ATF1 FOXA2 ZNF133 ARID4B SIN3A ZNF2 YY1 TCF12 ZNF766 MYSM1 FGGY LOC105378756 GC01M059291
GH01H059272 1.3 FANTOM5 Ensembl ENCODE 19.2 -23.7 -23705 0 PKNOX1 ZNF687 SIN3A JUNB ELF1 EBF1 DPF2 BATF RELA IKZF1 FGGY GC01M059291 HSD52
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGGY on UCSC Golden Path with GeneCards custom track

Promoters for FGGY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007276 395 1601 HDGF PKNOX1 MLX ARNT SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207

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

Selected DME Specific Peptides for FGGY Gene

Q96C11:
  • GFDATCSLVV
  • GTGSVRA
  • WPDFHGNRSPLAD
  • ASLIDAHAGG

Post-translational modifications for FGGY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for FGGY Gene

Gene Families for FGGY Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

Function for FGGY Gene

Enzyme Numbers (IUBMB) for FGGY Gene

Phenotypes From GWAS Catalog for FGGY Gene

Gene Ontology (GO) - Molecular Function for FGGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016773 phosphotransferase activity, alcohol group as acceptor IEA --
GO:0019150 D-ribulokinase activity IDA 27909055
genes like me logo Genes that share ontologies with FGGY: view
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

Inhibitory RNA Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FGGY Gene

Localization for FGGY Gene

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 FGGY gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FGGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with FGGY: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FGGY Gene

Pathways & Interactions for FGGY Gene

No Data Available

Gene Ontology (GO) - Biological Process for FGGY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0019321 pentose metabolic process IMP 27909055
GO:0046835 carbohydrate phosphorylation IDA,IEA 27909055
GO:0070050 neuron cellular homeostasis IMP 17671248
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FGGY Gene



Protein tissue co-expression partners for FGGY Gene

NURSA nuclear receptor signaling pathways regulating expression of FGGY Gene:

FGGY

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).

Evidence on tissue expression from TISSUES for FGGY Gene

  • Nervous system(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with FGGY: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FGGY Gene

Orthologs for FGGY Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FGGY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGGY 33 34
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia FGGY 33 34
  • 90.62 (n)
cow
(Bos Taurus)
Mammalia FGGY 33 34
  • 90.36 (n)
mouse
(Mus musculus)
Mammalia Fggy 33 16 34
  • 88.16 (n)
rat
(Rattus norvegicus)
Mammalia Fggy 33
  • 87.37 (n)
chicken
(Gallus gallus)
Aves FGGY 33 34
  • 75.9 (n)
lizard
(Anolis carolinensis)
Reptilia FGGY 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fggy 33
  • 69.98 (n)
zebrafish
(Danio rerio)
Actinopterygii fggy 33 34
  • 62.41 (n)
Dr.19740 33
fruit fly
(Drosophila melanogaster)
Insecta CG11594 33 34
  • 54.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005956 33
  • 54.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19041g 33
  • 50.4 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR109C 33
  • 49.13 (n)
-- 34
  • 32 (a)
OneToOne
-- 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR092W 33
  • 48.39 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30310 33
  • 53.83 (n)
rice
(Oryza sativa)
Liliopsida Os02g0177900 33
  • 56.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01701 33
  • 50.34 (n)
Species where no ortholog for FGGY was found in the sources mined by GeneCards:
  • 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
rs1000004708 -- 59,706,320(+) GGCCT(A/G)GAGCA intron-variant
rs1000010106 -- 59,488,026(+) TTTTG(G/T)GCCAT intron-variant
rs1000018536 -- 59,339,397(+) CTTTG(A/T)CCATT intron-variant, upstream-variant-2KB
rs1000025677 -- 59,640,146(+) TAGTT(A/C)TTGGC intron-variant
rs1000032875 -- 59,630,055(+) GTGGA(A/C)GGGGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv168n100 CNV loss 25217958
dgv284n54 CNV loss 21841781
dgv285n54 CNV loss 21841781
dgv286n54 CNV loss 21841781
dgv287n54 CNV loss 21841781
dgv288n54 CNV loss 21841781
dgv289n54 CNV loss 21841781
dgv290n54 CNV loss 21841781
dgv291n54 CNV loss 21841781
dgv292n54 CNV gain+loss 21841781
dgv293n54 CNV loss 21841781
dgv294n54 CNV loss 21841781
dgv295n54 CNV loss 21841781
dgv41e212 CNV loss 25503493
dgv44n67 CNV loss 20364138
dgv45n67 CNV gain 20364138
esv1008172 CNV loss 20482838
esv1430411 CNV insertion 17803354
esv22806 CNV gain 19812545
esv2421406 CNV deletion 20811451
esv2657989 CNV deletion 23128226
esv2663896 CNV deletion 23128226
esv2674836 CNV deletion 23128226
esv2675145 CNV deletion 23128226
esv2748874 CNV deletion 23290073
esv2748885 CNV deletion 23290073
esv2763521 CNV loss 21179565
esv28159 CNV loss 19812545
esv3345588 CNV insertion 20981092
esv3562671 CNV deletion 23714750
esv3562682 CNV deletion 23714750
esv3562693 CNV deletion 23714750
esv3577888 CNV loss 25503493
esv3586180 CNV loss 21293372
esv3586181 CNV loss 21293372
esv3586183 CNV loss 21293372
esv3586184 CNV loss 21293372
esv3586185 CNV loss 21293372
esv3586186 CNV loss 21293372
esv3586187 CNV loss 21293372
esv3586188 CNV loss 21293372
esv3586190 CNV loss 21293372
esv3586192 CNV gain 21293372
esv994342 CNV loss 20482838
nsv1009268 CNV loss 25217958
nsv1012848 CNV loss 25217958
nsv1043 CNV deletion 18451855
nsv1070072 CNV deletion 25765185
nsv1113124 CNV deletion 24896259
nsv1145347 CNV deletion 24896259
nsv1145839 CNV deletion 26484159
nsv441695 CNV loss 18776908
nsv461639 CNV loss 19166990
nsv472693 CNV novel sequence insertion 20440878
nsv523577 CNV loss 19592680
nsv546317 CNV loss 21841781
nsv546349 CNV loss 21841781
nsv546362 CNV loss 21841781
nsv546367 CNV loss 21841781
nsv546368 CNV loss 21841781
nsv819226 CNV gain 19587683
nsv820893 CNV deletion 20802225
nsv822887 CNV loss 20364138
nsv822921 CNV loss 20364138
nsv829982 CNV loss 17160897
nsv829993 CNV loss 17160897
nsv956677 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
FGGY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • adult-onset primary lateral sclerosis
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 DA (The New England journal of medicine 2007) 2 3 4 45 60
  2. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 45 60
  3. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PMID: 19464757) Fernández-Santiago R … Gasser T (Neurobiology of aging 2011) 3 45 60
  4. Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis. (PMID: 20001489) Daoud H … Rouleau GA (Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010) 3 45 60
  5. Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K … van den Oord EJ (Biological psychiatry 2010) 3 45 60

Products for FGGY Gene

  • Addgene plasmids for FGGY

Sources for FGGY Gene

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