This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori ad... See more...

Aliases for FUCA2 Gene

Aliases for FUCA2 Gene

  • Alpha-L-Fucosidase 2 2 3 4 5
  • Alpha-L-Fucoside Fucohydrolase 2 3 4
  • Fucosidase, Alpha-L- 2, Plasma 2 3
  • Plasma Alpha-L-Fucosidase 3 4
  • Plasma Fucosidase 2 3
  • A-L-Fucosidase 2 2 3
  • EC 3.2.1.51 4 50
  • DJ20N2.5 2 3
  • I+/--L-Fucosidase 2 3
  • Α-L-Fucosidase 2 2
  • MGC1314 2
  • FUCA2 5

External Ids for FUCA2 Gene

Previous GeneCards Identifiers for FUCA2 Gene

  • GC06U990037
  • GC06M143797
  • GC06M143796
  • GC06M143857
  • GC06M141380

Summaries for FUCA2 Gene

Entrez Gene Summary for FUCA2 Gene

  • This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]

GeneCards Summary for FUCA2 Gene

FUCA2 (Alpha-L-Fucosidase 2) is a Protein Coding gene. Diseases associated with FUCA2 include Fucosidosis and Laryngotracheitis. Among its related pathways are Lysosome and Innate Immune System. Gene Ontology (GO) annotations related to this gene include fucose binding and alpha-L-fucosidase activity. An important paralog of this gene is FUCA1.

UniProtKB/Swiss-Prot Summary for FUCA2 Gene

  • Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

Gene Wiki entry for FUCA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FUCA2 Gene

Genomics for FUCA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FUCA2 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 FUCA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FUCA2

Top Transcription factor binding sites by QIAGEN in the FUCA2 gene promoter:
  • AML1a
  • Arnt
  • Brachyury
  • FOXL1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HNF-1
  • HNF-1A

Genomic Locations for FUCA2 Gene

Latest Assembly
chr6:143,494,812-143,511,720
(GRCh38/hg38)
Size:
16,909 bases
Orientation:
Minus strand

Previous Assembly
chr6:143,815,949-143,832,857
(GRCh37/hg19 by Entrez Gene)
Size:
16,909 bases
Orientation:
Minus strand

chr6:143,815,948-143,832,827
(GRCh37/hg19 by Ensembl)
Size:
16,880 bases
Orientation:
Minus strand

Genomic View for FUCA2 Gene

Genes around FUCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUCA2 Gene

Proteins for FUCA2 Gene

  • Protein details for FUCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTY2-FUCO2_HUMAN
    Recommended name:
    Plasma alpha-L-fucosidase
    Protein Accession:
    Q9BTY2
    Secondary Accessions:
    • E9PEB6
    • Q7Z6V1
    • Q7Z6Y2
    • Q8NBK4

    Protein attributes for FUCA2 Gene

    Size:
    467 amino acids
    Molecular mass:
    54067 Da
    Quaternary structure:
    • Homotetramer.

    Alternative splice isoforms for FUCA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FUCA2 Gene

Selected DME Specific Peptides for FUCA2 Gene

Q9BTY2:
  • CGGNLLMNIGPT
  • HWGVFSVP
  • KFGIFIH
  • KWENCMT
  • KTLPELYELV
  • SVPSFGSEWFW
  • KHHEGFT

Post-translational modifications for FUCA2 Gene

  • Glycosylation at Asn171, Asn239, and Asn377
  • Ubiquitination at Lys85
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FUCO2_HUMAN (1608)

Other Protein References for FUCA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for FUCA2
  • Boster Bio Antibodies for FUCA2
  • Santa Cruz Biotechnology (SCBT) Antibodies for FUCA2

Domains & Families for FUCA2 Gene

Gene Families for FUCA2 Gene

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

Protein Domains for FUCA2 Gene

InterPro:
Blocks:
  • Glycoside hydrolase, family 29 (alpha-L-fucosidase)

Suggested Antigen Peptide Sequences for FUCA2 Gene

GenScript: Design optimal peptide antigens:
  • Alpha-L-fucoside fucohydrolase 2 (FUCO2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTY2

UniProtKB/Swiss-Prot:

FUCO2_HUMAN :
  • Belongs to the glycosyl hydrolase 29 family.
Family:
  • Belongs to the glycosyl hydrolase 29 family.
genes like me logo Genes that share domains with FUCA2: view

Function for FUCA2 Gene

Molecular function for FUCA2 Gene

UniProtKB/Swiss-Prot Function:
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alpha-L-fucoside + H2O = an alcohol + L-fucose; Xref=Rhea:RHEA:12288, ChEBI:CHEBI:2181, ChEBI:CHEBI:15377, ChEBI:CHEBI:28349, ChEBI:CHEBI:30879; EC=3.2.1.51; Evidence={ECO:0000255|PROSITE-ProRule:PRU10054};.
GENATLAS Biochemistry:
fucosidase,alpha-L-2,plasma,isoform,cleaving fucose from the non reducing and of a variety of oligosaccharides (glycoprotein isoform catabolism)

Enzyme Numbers (IUBMB) for FUCA2 Gene

Phenotypes From GWAS Catalog for FUCA2 Gene

Gene Ontology (GO) - Molecular Function for FUCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004560 alpha-L-fucosidase activity IEA,IDA 19666478
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with FUCA2: view
genes like me logo Genes that share phenotypes with FUCA2: view

Animal Models for FUCA2 Gene

MGI Knock Outs for FUCA2:

Animal Models for research

  • Taconic Biosciences Mouse Models for FUCA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUCA2

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FUCA2 Gene

Localization for FUCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUCA2 Gene

Secreted.

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 FUCA2 gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 4
mitochondrion 2
nucleus 2
plasma membrane 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for FUCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 19666478
GO:0005764 lysosome IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with FUCA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FUCA2 Gene

Pathways & Interactions for FUCA2 Gene

genes like me logo Genes that share pathways with FUCA2: view

Pathways by source for FUCA2 Gene

3 Reactome pathways for FUCA2 Gene
2 KEGG pathways for FUCA2 Gene

Gene Ontology (GO) - Biological Process for FUCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006004 fucose metabolic process IBA,IDA 19666478
GO:0008152 metabolic process IEA --
GO:0009617 response to bacterium IMP 19666478
GO:0016139 glycoside catabolic process IBA,IDA 19666478
genes like me logo Genes that share ontologies with FUCA2: view

No data available for SIGNOR curated interactions for FUCA2 Gene

Drugs & Compounds for FUCA2 Gene

(4) Drugs for FUCA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved Pharma 0
Water Approved Pharma 0
1-Butanol Experimental Pharma 0

(4) Additional Compounds for FUCA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
78-83-1
l-fucose
  • 6-Deoxy-L-galactose
  • (-)-Fucose
  • (-)-L-Fucose
  • 6-Deoxy-L-galactopyranose
  • 6-Desoxygalactose
87-96-7
genes like me logo Genes that share compounds with FUCA2: view

Transcripts for FUCA2 Gene

mRNA/cDNA for FUCA2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 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 FUCA2

Alternative Splicing Database (ASD) splice patterns (SP) for FUCA2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7
SP1: - - -
SP2: - - - -
SP3:
SP4: - -
SP5: - - - -
SP6:

Relevant External Links for FUCA2 Gene

GeneLoc Exon Structure for
FUCA2

Expression for FUCA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FUCA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FUCA2 Gene

This gene is overexpressed in Serum (43.1) and Nasal epithelium (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FUCA2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FUCA2

SOURCE GeneReport for Unigene cluster for FUCA2 Gene:

Hs.17680

Evidence on tissue expression from TISSUES for FUCA2 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Kidney(2.3)
  • Stomach(2)
  • Intestine(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with FUCA2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FUCA2 Gene

Orthologs for FUCA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FUCA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FUCA2 29 30
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FUCA2 29 30
  • 88.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FUCA2 29 30
  • 87.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fuca2 29 16 30
  • 82.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fuca2 29
  • 82.76 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FUCA2 30
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FUCA2 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FUCA2 29 30
  • 75.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FUCA2 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fuca2 29
  • 68.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68702 29
Zebrafish
(Danio rerio)
Actinopterygii fuca2 29 30
  • 63.05 (n)
OneToOne
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9330 29
Fruit Fly
(Drosophila melanogaster)
Insecta Fuca 29 30
  • 59.14 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007285 29
  • 56.91 (n)
Worm
(Caenorhabditis elegans)
Secernentea W03G11.3 29 30
  • 58.36 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1844 30
  • 57 (a)
ManyToMany
CSA.1698 30
  • 53 (a)
ManyToMany
-- 30
  • 53 (a)
ManyToMany
-- 30
  • 47 (a)
ManyToMany
-- 30
  • 44 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3711 29
Species where no ortholog for FUCA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for FUCA2 Gene

ENSEMBL:
Gene Tree for FUCA2 (if available)
TreeFam:
Gene Tree for FUCA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FUCA2: view image
Alliance of Genome Resources:
Additional Orthologs for FUCA2

Paralogs for FUCA2 Gene

Paralogs for FUCA2 Gene

(1) SIMAP similar genes for FUCA2 Gene using alignment to 3 proteins:

  • FUCO2_HUMAN
  • Q7Z6V1_HUMAN
  • Q7Z6V2_HUMAN
genes like me logo Genes that share paralogs with FUCA2: view

Variants for FUCA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FUCA2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs111499802 Benign: not provided 143,504,257(-) A/G
NM_032020.5(FUCA2):c.413-5T>C
INTRON
rs111958168 Benign: not provided 143,502,129(-) A/T
NM_032020.5(FUCA2):c.964-7T>A
INTRON
rs113752927 Benign: not provided 143,501,937(-) A/G
NM_032020.5(FUCA2):c.1149T>C (p.Asp383=)
SYNONYMOUS
rs114388392 Likely Benign: not provided 143,507,406(-) T/C
NM_032020.5(FUCA2):c.243A>G (p.Glu81=)
SYNONYMOUS
rs777309409 Uncertain Significance: Severe Myopia 143,511,427(-) C/T
NM_032020.5(FUCA2):c.208G>A (p.Gly70Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FUCA2 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 FUCA2 Gene

Variant ID Type Subtype PubMed ID
esv2759475 CNV gain 17122850
nsv965776 CNV duplication 23825009

Variation tolerance for FUCA2 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.56; 94.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FUCA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUCA2
Leiden Open Variation Database (LOVD)
FUCA2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FUCA2 Gene

Disorders for FUCA2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for FUCA2 Gene - From: COP

Disorder Aliases PubMed IDs
fucosidosis
  • alpha-l-fucosidase deficiency
laryngotracheitis
scheie syndrome
  • mucopolysaccharidosis type is; mps1-s
skin hemangioma
  • angioma of the skin
angiokeratoma
  • angiokeratoma of skin
- elite association - COSMIC cancer census association via MalaCards
Search FUCA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FUCA2

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 FUCA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FUCA2 Gene

Publications for FUCA2 Gene

  1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 40
  2. Role for alpha-L-fucosidase in the control of Helicobacter pylori-infected gastric cancer cells. (PMID: 19666478) Liu TW … Lin CH (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 22
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  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
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for FUCA2 Gene

Sources for FUCA2 Gene