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Aliases for FCSK Gene

Aliases for FCSK Gene

  • Fucose Kinase 2 3
  • Fucokinase 2 3 4 5
  • L-Fucose Kinase 2 3 4
  • FUK 3 4 5
  • 1110046B12Rik 3
  • EC 2.7.1.52 4
  • CDGF2 3

External Ids for FCSK Gene

Previous HGNC Symbols for FCSK Gene

  • FUK

Summaries for FCSK Gene

Entrez Gene Summary for FCSK Gene

  • The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]

GeneCards Summary for FCSK Gene

FCSK (Fucose Kinase) is a Protein Coding gene. Diseases associated with FCSK include Congenital Disorder Of Glycosylation With Defective Fucosylation 2 and Cone-Rod Dystrophy And Hearing Loss 2. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Transport to the Golgi and subsequent modification.

UniProtKB/Swiss-Prot for FCSK Gene

  • Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.

Additional gene information for FCSK Gene

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

Genomics for FCSK Gene

GeneHancer (GH) Regulatory Elements for FCSK Gene

Promoters and enhancers for FCSK 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
GH16J070453 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.3 289 3.7 HDGF ZNF652 ZFX SIX5 NKRF POLR2A ZNF384 AHR TFE3 ZBTB7A FCSK GC16P070453 SMG1P7 COG4 LOC100506083 PDXDC2P-NPIPB14P NPIPB14P
GH16J069721 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.9 -729.3 -729332 7.2 MTA3 SP1 ZNF652 ZFX ELF3 ZKSCAN8 MNT ZNF148 NKRF POLR2A NQO1 ENSG00000262136 SF3B3 PDPR NPIPB14P FCSK COG4 PDXDC2P-NPIPB14P SNTB2 PDXDC2P
GH16J070414 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 29 -35.4 -35395 10.2 SP1 CC2D1A CBFA2T2 ZNF148 MLLT1 ZNF121 CEBPG NFIB TRIM24 RELA FCSK COG4 DDX19B PDXDC2P-NPIPB14P SF3B3 ENSG00000260290 NPIPB14P NFAT5 PDPR PDXDC2P
GH16J069865 Enhancer 1.3 Ensembl ENCODE dbSUPER 35.5 -588.5 -588473 1.4 CC2D1A ZKSCAN8 MLLT1 ZNF121 TRIM24 ZNF404 MZF1 EGR1 ZNF680 ZNF560 SF3B3 PDPR NFAT5 ENSG00000260290 PDXDC2P-NPIPB14P NPIPB14P LOC400541 PDXDC2P CHTF8 DDX19B
GH16J070113 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14.8 -340.0 -340049 2.5 MNT CBFA2T2 NKRF GTF2F1 ZNF687 TFE3 SP5 EGR1 KAT8 CREB1 PDPR CLEC18A COG4 FCSK LOC400541 AARS NPIPB14P SF3B3 VAC14 EXOSC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FCSK on UCSC Golden Path with GeneCards custom track

Genomic Locations for FCSK Gene

Genomic Locations for FCSK Gene
chr16:70,454,584-70,480,274
(GRCh38/hg38)
Size:
25,691 bases
Orientation:
Plus strand
chr16:70,488,324-70,514,177
(GRCh37/hg19)
Size:
25,854 bases
Orientation:
Plus strand

Genomic View for FCSK Gene

Genes around FCSK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FCSK Gene

Proteins for FCSK Gene

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

    Protein Symbol:
    Q8N0W3-FCSK_HUMAN
    Recommended name:
    L-fucose kinase
    Protein Accession:
    Q8N0W3
    Secondary Accessions:
    • Q5PSM3
    • Q5XKL6
    • Q6ZRA0
    • Q96MT9

    Protein attributes for FCSK Gene

    Size:
    1084 amino acids
    Molecular mass:
    117623 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71190.1; Type=Frameshift; Positions=19; Evidence={ECO:0000305}; Sequence=CAD29647.1; Type=Frameshift; Positions=19; Evidence={ECO:0000305};

    Alternative splice isoforms for FCSK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FCSK Gene

Post-translational modifications for FCSK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for FCSK Gene

Domains & Families for FCSK Gene

Gene Families for FCSK Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FCSK Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53723, highly similar to L-fucose kinase (EC 2.7.1.52) (B4DEU5_HUMAN)
  • L-fucose kinase (FUK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N0W3

UniProtKB/Swiss-Prot:

FCSK_HUMAN :
  • Belongs to the GHMP kinase family.
Family:
  • Belongs to the GHMP kinase family.
genes like me logo Genes that share domains with FCSK: view

Function for FCSK Gene

Molecular function for FCSK Gene

UniProtKB/Swiss-Prot Function:
Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-fucose = ADP + beta-L-fucose 1-phosphate + H(+); Xref=Rhea:RHEA:13241, ChEBI:CHEBI:2181, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57268, ChEBI:CHEBI:456216; EC=2.7.1.52; Evidence=. ;.

Enzyme Numbers (IUBMB) for FCSK Gene

Phenotypes From GWAS Catalog for FCSK Gene

Gene Ontology (GO) - Molecular Function for FCSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups IEA --
GO:0050201 fucokinase activity TAS --
genes like me logo Genes that share ontologies with FCSK: view
genes like me logo Genes that share phenotypes with FCSK: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FCSK

CRISPR Products

miRNA for FCSK Gene

miRTarBase miRNAs that target FCSK

Clone Products

  • Applied Biological Materials (abm): Clones for FCSK - Now 50% OFF >
  • * FCSK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FCSK tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Localization for FCSK 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 FCSK gene
Compartment Confidence
cytosol 4
mitochondrion 1
nucleus 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FCSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FCSK: view

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

Pathways & Interactions for FCSK Gene

genes like me logo Genes that share pathways with FCSK: view

Gene Ontology (GO) - Biological Process for FCSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0042352 GDP-L-fucose salvage IBA,IMP 30503518
GO:0046835 carbohydrate phosphorylation IEA --
GO:1903350 response to dopamine IEA --
genes like me logo Genes that share ontologies with FCSK: view

No data available for SIGNOR curated interactions for FCSK Gene

Drugs & Compounds for FCSK Gene

(2) Drugs for FCSK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rhamnose Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for FCSK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Fucose 1-phosphate
  • 6-Deoxy-1-O-phosphono-L-galactopyranose
  • 6-Deoxy-L-galactose 1-phosphate
  • L-Fucose 1-phosphate
  • Fucose 1-phosphoric acid
  • 6-Deoxy-L-galactose 1-phosphoric acid
16562-58-6
genes like me logo Genes that share compounds with FCSK: view

Transcripts for FCSK Gene

mRNA/cDNA for FCSK Gene

Unigene Clusters for FCSK Gene

Fucokinase:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FCSK - Now 50% OFF >
  • * FCSK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FCSK tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for FCSK Gene

GeneLoc Exon Structure for
FCSK
ECgene alternative splicing isoforms for
FCSK

Expression for FCSK Gene

NURSA nuclear receptor signaling pathways regulating expression of FCSK Gene:

FCSK

SOURCE GeneReport for Unigene cluster for FCSK Gene:

Hs.7907

mRNA Expression by UniProt/SwissProt for FCSK Gene:

Q8N0W3-FCSK_HUMAN
Tissue specificity: Expressed in fibroblasts.

Evidence on tissue expression from TISSUES for FCSK Gene

  • Nervous system(4.8)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCSK Gene

Orthologs for FCSK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FCSK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUK 35 34
  • 99.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FUK 35 34
  • 88.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FUK 35 34
  • 86.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fuk 35 34
  • 84.62 (n)
OneToOne
Fcsk 17
rat
(Rattus norvegicus)
Mammalia Fuk 34
  • 83.69 (n)
oppossum
(Monodelphis domestica)
Mammalia FUK 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUK 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves FUK 35 34
  • 68.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FUK 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fuk 34
  • 60.21 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100150934 34
  • 58.79 (n)
FUK 35
  • 56 (a)
OneToOne
wufa03b12 34
worm
(Caenorhabditis elegans)
Secernentea C26D10.4 35 34
  • 40.48 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons FKGP 34
  • 38.91 (n)
rice
(Oryza sativa)
Liliopsida Os03g0115100 34
  • 41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
Species where no ortholog for FCSK was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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)

Evolution for FCSK Gene

ENSEMBL:
Gene Tree for FCSK (if available)
TreeFam:
Gene Tree for FCSK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FCSK: view image

Paralogs for FCSK Gene

No data available for Paralogs for FCSK Gene

Variants for FCSK Gene

Sequence variations from dbSNP and Humsavar for FCSK Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs78726068 likely-benign, Congenital disorder of glycosylation 70,480,603(+) A/C downstream_transcript_variant
VAR_081646 Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] p.Ser223Pro
VAR_081647 Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] p.Arg683Cys
VAR_081648 Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] p.Lys994Gln
rs1000001487 -- 70,480,009(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3892881 CNV gain 25118596
nsv7285 OTHER inversion 18451855
nsv833272 CNV loss 17160897

Variation tolerance for FCSK Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.86; 67.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCSK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCSK

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

Disorders for FCSK Gene

MalaCards: The human disease database

(2) MalaCards diseases for FCSK Gene - From: OMIM, ClinVar, GTR, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FCSK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FCSK_HUMAN
  • Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. {ECO:0000269 PubMed:30503518}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FCSK

genes like me logo Genes that share disorders with FCSK: view

No data available for Genatlas for FCSK Gene

Publications for FCSK Gene

  1. Identification of human L-fucose kinase amino acid sequence. (PMID: 12056818) Hinderlich S … Bauer C (Biochemical and biophysical research communications 2002) 2 3 4 58
  2. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. (PMID: 30503518) Ng BG … Freeze HH (American journal of human genetics 2018) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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
  5. The fucose salvage pathway inhibits invadopodia formation and extracellular matrix degradation in melanoma cells. (PMID: 29924834) Keeley T … Yang S (PloS one 2018) 3 58

Products for FCSK Gene

Sources for FCSK Gene

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