U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2519, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

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 (45) 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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous