SULF2 Gene (Sulfatase 2)
Extracellular sulfatase modulating heparan sulfate proteoglycans and signaling pathways
Gene Information Card
| Symbol | SULF2 |
|---|---|
| Full Name | Sulfatase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 55959 ncbi.nlm.nih.gov/gene/55959 |
| Ensembl ID | ENSG00000196562 |
| UniProt ID | Q8IWU5 |
| OMIM ID | 610013 |
| HGNC ID | 20392 |
| Aliases | HSULF-2, KIAA1247, SULF-2 |
Description
SULF2 encodes an extracellular sulfatase that removes 6-O-sulfate groups from heparan sulfate chains, modulating the binding of growth factors, cytokines, and morphogens to their receptors. This activity regulates multiple signaling pathways including Wnt, FGF, and Hedgehog, and is implicated in cancer progression, angiogenesis, and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | SULF2 overexpression enhances Wnt/β-catenin signaling via desulfation of heparan sulfate proteoglycans, promoting tumor growth and metastasis | PMID: 19029910; COSMIC |
| Breast cancer | Elevated SULF2 expression correlates with poor prognosis; desulfation of heparan sulfate increases FGF2 signaling and cell proliferation | PMID: 21746837; ClinVar |
| Lung adenocarcinoma | SULF2 upregulation promotes tumor invasion through activation of the Hedgehog pathway | PMID: 25691885; COSMIC |
| Multiple myeloma | SULF2 expressed by tumor cells modifies bone marrow microenvironment, enhancing Wnt signaling and osteolytic lesions | PMID: 21746837; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Lung | 8.7 | Low |
| Breast | 6.2 | Low |
| Placenta | 15.1 | Medium |
| Kidney | 9.4 | Low |
| Small intestine | 11.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| A549 | 10.2 | Lung adenocarcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| HEK293 | 5.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% (gnomAD) | Unknown functional effect; reported in ClinVar as uncertain significance |
| c.1465G>A (p.Glu489Lys) | Missense | <0.1% (gnomAD) | Unknown functional effect; reported in ClinVar as uncertain significance |
| c.1742C>T (p.Pro581Leu) | Missense | <0.1% (gnomAD) | Unknown functional effect; reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression and amplification observed in multiple cancers, suggesting oncogenic gain-of-function.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • sulfatase activity (GO:0008484) | • heparan sulfate proteoglycan binding (GO:0043395) |
| • extracellular region (GO:0005576) | • heparan sulfate catabolic process (GO:0030206) |
| • regulation of cell growth (GO:0001558) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• FGF signaling pathway (Reactome: R-HSA-190236)
• Heparan sulfate/heparin metabolism (Reactome: R-HSA-1638091)
Protein Summary
SULF2 is a 870-amino acid extracellular sulfatase that specifically removes 6-O-sulfate groups from heparan sulfate chains. It is synthesized as a preproprotein and cleaved to generate the active enzyme. The protein contains a signal peptide, a sulfatase domain, and a hydrophilic domain. SULF2 localizes to the cell surface and extracellular matrix, where it modulates the binding of heparin-binding growth factors to their receptors, thereby influencing cell proliferation, migration, and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SULF2 Knockout HEK293 Cell Line | EDJ-KQ15560 | Human | 55959 | Details Get a Quote |
| SULF2 Knockout A-549 Cell Line | EDJ-KQ46415 | Human | 55959 | Details Get a Quote |
| SULF2 Knockout HCT 116 Cell Line | EDJ-KQ46416 | Human | 55959 | Details Get a Quote |
| SULF2 Knockout HeLa Cell Line | EDJ-KQ46417 | Human | 55959 | Details Get a Quote |
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