Gene Gene information from NCBI Gene database.
Entrez ID 2519
Gene name Alpha-L-fucosidase 2
Gene symbol FUCA2
Synonyms (NCBI Gene)
dJ20N2.5
Chromosome 6
Chromosome location 6q24.2
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 reduci
miRNA miRNA information provided by mirtarbase database.
119
miRTarBase ID miRNA Experiments Reference
MIRT1006115 hsa-miR-103a CLIP-seq
MIRT1006116 hsa-miR-106a CLIP-seq
MIRT1006117 hsa-miR-106b CLIP-seq
MIRT1006118 hsa-miR-107 CLIP-seq
MIRT1006119 hsa-miR-1276 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004560 Function Alpha-L-fucosidase activity IBA
GO:0004560 Function Alpha-L-fucosidase activity IDA 19666478
GO:0004560 Function Alpha-L-fucosidase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136820 4008 ENSG00000001036
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BTY2
Protein name Plasma alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucoside fucohydrolase 2) (Alpha-L-fucosidase 2)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01120 Alpha_L_fucos 24 365 Alpha-L-fucosidase Domain
PF16757 Fucosidase_C 376 464 Alpha-L-fucosidase C-terminal domain Domain
Sequence
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Other glycan degradation
Lysosome
  Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia, Sickle Cell Anemia BEFREE 27636371
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 28808940
★☆☆☆☆
Found in Text Mining only
Duodenal Ulcer Duodenal Ulcer BEFREE 19666478
★☆☆☆☆
Found in Text Mining only
Duodenal Ulcer Duodenal ulcer Pubtator 19666478 Associate
★☆☆☆☆
Found in Text Mining only
Fucosidase Deficiency Disease Fucosidase Deficiency Disease BEFREE 31531202
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 34745134 Associate
★☆☆☆☆
Found in Text Mining only
Mucolipidoses Mucolipidosis BEFREE 3997153
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 27773385
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 19666478, 36583336 Associate
★☆☆☆☆
Found in Text Mining only