POFUT2
Protein O-Fucosyltransferase 2
Gene Information Card
| Symbol | POFUT2 |
|---|---|
| Full Name | Protein O-Fucosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 23275 ncbi.nlm.nih.gov/gene/23275 |
| Ensembl ID | ENSG00000160211 |
| UniProt ID | Q9Y2G1 |
| OMIM ID | 610249 |
| HGNC ID | 17972 |
| Aliases | FUT13, O-FucT-2 |
Description
POFUT2 encodes protein O-fucosyltransferase 2, an enzyme that catalyzes the transfer of fucose to serine or threonine residues within thrombospondin type 1 repeats (TSRs) of target proteins. This O-fucosylation is essential for proper folding and secretion of TSR-containing proteins, including those involved in cell adhesion, migration, and signaling. POFUT2 is widely expressed and plays a critical role in development and homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dowling-Degos disease 4 | Loss-of-function mutations in POFUT2 disrupt O-fucosylation of TSR-containing proteins, leading to abnormal melanocyte and keratinocyte function. | ClinVar, OMIM |
| POFUT2-related disorder (unspecified) | Biallelic variants cause a syndromic phenotype with developmental delay and skeletal abnormalities. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Heart | 12.1 | Medium |
| Kidney | 14.3 | Medium |
| Liver | 9.8 | Medium |
| Lung | 11.5 | Medium |
| Pancreas | 7.9 | Low |
| Skeletal muscle | 6.4 | Low |
| Skin | 13.0 | Medium |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney cell line |
| HeLa | 10.8 | Cervical cancer cell line |
| K562 | 9.2 | Leukemia cell line |
| MCF7 | 8.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144Trp) | Missense | <0.01% | Likely loss of function; associated with Dowling-Degos disease |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; reported in developmental disorder |
| c.832C>T (p.Arg278*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Most reported POFUT2 mutations are loss-of-function, impairing O-fucosyltransferase activity and leading to defective TSR folding.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • O-fucosyltransferase activity | • fucosylation |
| • protein glycosylation | • endoplasmic reticulum lumen |
| • Notch signaling pathway | • cell adhesion |
Pathways
• O-fucosylation of thrombospondin type 1 repeats
• Notch signaling (indirect via TSR proteins)
Protein Summary
POFUT2 is a 442-amino acid protein localized to the endoplasmic reticulum. It specifically adds O-fucose to serine/threonine residues within TSR motifs. This modification is required for proper folding and secretion of TSR-containing proteins such as thrombospondins, ADAMTS family members, and certain complement proteins. POFUT2 deficiency leads to ER retention and degradation of its substrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POFUT2 Knockout HEK293 Cell Line | EDJ-KQ7938 | Human | 23275 | Details Get a Quote |
| POFUT2 Knockout HeLa Cell Line | EDJ-KQ32269 | Human | 23275 | Details Get a Quote |
| POFUT2 Knockout A-549 Cell Line | EDJ-KQ33598 | Human | 23275 | Details Get a Quote |
| POFUT2 Knockout HCT 116 Cell Line | EDJ-KQ33599 | Human | 23275 | Details Get a Quote |
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