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    FUCA2 alpha-L-fucosidase 2 [ Homo sapiens (human) ]

    Gene ID: 2519, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FUCA2provided by HGNC
    Official Full Name
    alpha-L-fucosidase 2provided by HGNC
    Primary source
    HGNC:HGNC:4008
    See related
    Ensembl:ENSG00000001036 MIM:136820; AllianceGenome:HGNC:4008
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ20N2.5
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 24.8), colon (RPKM 24.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FUCA2 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (143494812..143511720, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (144687220..144704128, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143815949..143832857, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:143770838-143771820 Neighboring gene adenosine deaminase tRNA specific 2 Neighboring gene RNA, 5S ribosomal pseudogene 221 Neighboring gene peroxisomal biogenesis factor 3 Neighboring gene uncharacterized LOC124901417 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:143832090-143832293 Neighboring gene uncharacterized LOC105378035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143833157-143833817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143832494-143833156 Neighboring gene voltage dependent anion channel 1 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25203 Neighboring gene PHACTR2 antisense RNA 1 Neighboring gene phosphatase and actin regulator 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2. Narahara K, et al. Am J Med Genet, 1991 Sep 1. PMID 1951444
    2. Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system. Eiberg H, et al. Clin Genet, 1984 Jul. PMID 6590153
    3. Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers. Eiberg H, et al. Hum Hered, 1993 Jul-Aug. PMID 8344670
    4. Serum fucosylation changes in oral cancer and oral precancerous conditions: alpha-L-fucosidase as a marker. Shah M, et al. Cancer, 2008 Jul 15. PMID 18521898
    5. Cancer-associated adipocytes release FUCA2 to promote aggressiveness in TNBC. Liu Q, et al. Endocr Relat Cancer, 2022 Feb 4. PMID 34935631

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation.
      Title: FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation.
    2. Cancer-associated adipocytes release FUCA2 to promote aggressiveness in TNBC.
      Title: Cancer-associated adipocytes release FUCA2 to promote aggressiveness in TNBC.
    3. FUCA2 Is a Prognostic Biomarker and Correlated With an Immunosuppressive Microenvironment in Pan-Cancer.
      Title: FUCA2 Is a Prognostic Biomarker and Correlated With an Immunosuppressive Microenvironment in Pan-Cancer.
    4. Genetic polymorphisms within the FUCA2 and IL18 gene regions are also associated with diastolic function in SCD, likely by affecting expression levels of the genes
      Title: Genome-Wide Analysis Identifies IL-18 and FUCA2 as Novel Genes Associated with Diastolic Function in African Americans with Sickle Cell Disease.
    5. IL-13, IL-4 and IL-5 have no effect on the expression of FUCA1 and FUCA2, but its expression is upregulated by IFN-gamma, a Th1 cytokine.
      Title: Modulation of expression in BEAS-2B airway epithelial cells of α-L-fucosidase A1 and A2 by Th1 and Th2 cytokines, and overexpression of α-L-fucosidase 2.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    7. Findings not only demonstrate an important connection between FUCA2 and the adhesion, growth, and pathogenicity of H. pylori, but also support the idea that FUCA2 is a potential target for diagnosis and therapy of H. pylori-related diseases.
      Title: Role for alpha-L-fucosidase in the control of Helicobacter pylori-infected gastric cancer cells.
    8. serum alpha-L-fucosidase was identified as a useful marker for close monitoring of patients during post-treatment follow-up
      Title: Serum fucosylation changes in oral cancer and oral precancerous conditions: alpha-L-fucosidase as a marker.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of fucosidase, alpha-L- 2, plasma (FUCA2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1314

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-L-fucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-L-fucosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fucose metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycoside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycoside catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of entry of bacterium into host cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    plasma alpha-L-fucosidase
    Names
    I+/--L-fucosidase 2
    a-L-fucosidase 2
    alpha-L-fucoside fucohydrolase 2
    fucosidase, alpha-L- 2, plasma
    plasma fucosidase
    NP_114409.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027676.1 RefSeqGene

      Range
      5164..22072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032020.5 → NP_114409.2  plasma alpha-L-fucosidase precursor

      See identical proteins and their annotated locations for NP_114409.2

      Status: REVIEWED

      Source sequence(s)
      AK315475, AL031320, BC003060, BP214015
      Consensus CDS
      CCDS5200.1
      UniProtKB/Swiss-Prot
      E9PEB6, Q7Z6V1, Q7Z6Y2, Q8NBK4, Q9BTY2
      Related
      ENSP00000002165.5, ENST00000002165.11
      Conserved Domains (3) summary
      smart00812
      Location:28 → 413
      Alpha_L_fucos; Alpha-L-fucosidase
      COG3669
      Location:60 → 429
      AfuC; Alpha-L-fucosidase [Carbohydrate transport and metabolism]
      pfam16757
      Location:376 → 464
      Fucosidase_C; Alpha-L-fucosidase C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      143494812..143511720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      144687220..144704128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTY2.2 GenPept UniProtKB/Swiss-Prot:Q9BTY2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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