SUMF2: Sulfatase Modifying Factor 2
A key regulator of sulfatase activation via formylglycine generation
Gene Information Card
| Symbol | SUMF2 |
|---|---|
| Full Name | Sulfatase Modifying Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.21 |
| NCBI Gene ID | 25870 ncbi.nlm.nih.gov/gene/25870 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q8NBJ7 |
| OMIM ID | 607939 |
| HGNC ID | 20376 |
| Aliases | C7orf7, FGE2, PSEC0171, UNQ303/PRO343 |
Description
SUMF2 encodes sulfatase modifying factor 2, a paralog of SUMF1. It is involved in the post-translational activation of sulfatases by generating the formylglycine residue in the active site. Unlike SUMF1, SUMF2 has a more restricted substrate specificity and is not essential for general sulfatase activation. It is widely expressed and may play a role in modulating sulfatase activity in specific tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sulfatase deficiency (MSD) | SUMF2 mutations may contribute to residual sulfatase activity in MSD patients with SUMF1 mutations, but SUMF2 alone is not causative. | PMID: 18407551, ClinVar |
| Sulfatase-related disorders | Indirect involvement via modulation of sulfatase activation; no direct disease association established. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 6.8 | Low |
| Heart | 8.1 | Medium |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 6.2 | Low expression |
| HepG2 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.01% | Reduced formylglycine generation activity |
| c.458G>A (p.Arg153His) | Missense | 0.005% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair SUMF2 enzymatic activity, but complete loss is not reported in healthy populations.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • hydrolase activity (GO:0016787) |
| • cytoplasm (GO:0005737) | • Golgi apparatus (GO:0005794) |
| • proteolysis (GO:0006508) |
Pathways
• Sulfatase activation pathway (Reactome: R-HSA-1663150)
• Post-translational modification: formylglycine generation
Protein Summary
SUMF2 is a 301-amino acid protein localized to the Golgi apparatus. It catalyzes the conversion of a cysteine residue in sulfatases to formylglycine, a critical step for sulfatase activity. It shares structural homology with SUMF1 but has lower catalytic efficiency and narrower substrate range. The protein is expressed in multiple tissues and is considered a modifier of sulfatase function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUMF2 Knockout HEK293 Cell Line | EDJ-KQ8273 | Human | 25870 | Details Get a Quote |
| SUMF2 Knockout A-549 Cell Line | EDJ-KQ34222 | Human | 25870 | Details Get a Quote |
| SUMF2 Knockout HCT 116 Cell Line | EDJ-KQ34223 | Human | 25870 | Details Get a Quote |
| SUMF2 Knockout HeLa Cell Line | EDJ-KQ34224 | Human | 25870 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
