POFUT2 (protein O-fucosyltransferase 2)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 23275 |
| Gene name | Protein O-fucosyltransferase 2 |
| Gene symbol | POFUT2 |
| Synonyms (NCBI Gene) |
C21orf80FUT13
|
| Chromosome | 21 |
| Chromosome location | 21q22.3 |
| Summary | Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombos |
|
miRNA
miRNA information provided by mirtarbase database.
311
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q9Y2G5 | ||||||||||
| Protein name | GDP-fucose protein O-fucosyltransferase 2 (EC 2.4.1.221) (Peptide-O-fucosyltransferase 2) (O-FucT-2) | ||||||||||
| Protein function | Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X-X-S/T-C2 of thrombospondin type I repeats (TSRs) where C1 and C2 are the first and second cyste | ||||||||||
| PDB | 4AP5 , 4AP6 | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Isoform A is expressed in fetal liver and peripheral blood lymphocytes. Isoform B is expressed in spleen, lung, testis, bone marrow, thymus, pancreas, prostate, fetal brain, fetal liver and fetal kidney. Isoform C is expressed in brain | ||||||||||
| Sequence | |||||||||||
| Sequence length | 429 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||
|
|||||
|
Related Genes
Genes most often co-reported with POFUT2 across shared curated disease and pathway associations.
1
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to POFUT2 (see Related Genes above), that are NOT already directly curated for POFUT2 itself -- a lead worth checking, not a confirmed association.
5
|
|