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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SUMF2
sulfatase modifying factor 2
Chromosome 7 · 7p11.2
NCBI Gene: 25870Ensembl: ENSG00000129103.19HGNC: HGNC:20415UniProt: A8MXB9
60PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingendoplasmic reticulumprotein bindingendoplasmic reticulum lumenMultiple sulfatase deficiencyneurodegenerative diseaseulcer of lower limbleg injury
✦AI Summary

SUMF2 (sulfatase modifying factor 2) is a regulatory protein that lacks formylglycine generating activity and functions primarily as an inhibitor of sulfatase activation. Unlike its paralog SUMF1, SUMF2 cannot convert inactive sulfatases to their active forms and instead inhibits sulfatase activation by forming heterodimers with SUMF1 in the endoplasmic reticulum 1. SUMF2 demonstrates additional regulatory functions beyond sulfatase modulation, notably through direct interaction with interleukin-13 (IL-13), a key mediator of allergic inflammation. This interaction occurs independently of IL-13 glycosylation and results in inhibition of IL-13 secretion from bronchial smooth muscle cells and lymphocytes 2. Multiple SUMF2 subtypes can interact with both wild-type and mutated IL-13, suggesting diverse regulatory mechanisms 3. In disease contexts, SUMF2 shows clinical relevance as a potential biomarker. Hypermethylation of specific SUMF2 CpG sites correlates with shorter progression-free and overall survival in colorectal cancer patients 4, and SUMF2 is identified as a shared diagnostic marker for type 2 diabetes mellitus and chr7 obstructive pulmonary disease 5. These findings indicate SUMF2's role extends beyond sulfatase regulation to encompass immune modulation and disease pathogenesis.

Sources cited
1
SUMF2 lacks formylglycine generating activity, forms heterodimers with SUMF1 in the endoplasmic reticulum, and inhibits sulfatase activation
PMID: 15962010
2
SUMF2 directly interacts with IL-13 independently of glycosylation and inhibits IL-13 secretion from bronchial smooth muscle cells and lymphocytes
PMID: 19739097
3
Multiple SUMF2 subtypes can interact with both wild-type and mutated IL-13
PMID: 24301935
4
SUMF2 hypermethylation correlates with shorter progression-free and overall survival in colorectal cancer
PMID: 35317099
5
SUMF2 serves as a shared diagnostic marker for type 2 diabetes mellitus and chronic obstructive pulmonary disease
PMID: 40787468
Disease Associationsⓘ20
Multiple sulfatase deficiencyOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.29Weak
ulcer of lower limbOpen Targets
0.15Weak
leg injuryOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.08Suggestive
bladder transitional cell carcinomaOpen Targets
0.07Suggestive
peripheral neuropathyOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
diabetic neuropathyOpen Targets
0.05Suggestive
chronic ulcer of skinOpen Targets
0.05Suggestive
macular telangiectasia type 2Open Targets
0.04Suggestive
autonomic nervous system diseaseOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
diabetic polyneuropathyOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
intracranial hemorrhageOpen Targets
0.02Suggestive
urinary bladder carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_015411.4(SUMF2):c.536-2delPathogenic
Multiple sulfatase deficiency
☆☆☆☆2003
View on ClinVar ↗
Related Genes
SUMF1Protein interaction97%ARSAProtein interaction78%GALCShared pathway50%FN3KRPShared pathway50%HLCSShared pathway50%TPST1Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Liver
95%
Brain
91%
Ovary
85%
Bone Marrow
70%
Heart
50%
Gene Interaction Network
Click a node to explore
SUMF2SUMF1ARSAGALCFN3KRPHLCSTPST1
PROTEIN STRUCTURE
Preparing viewer…
PDB1Y4J · 1.86 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.73–1.22]
RankingsWhere SUMF2 stands among ~20K protein-coding genes
  • #7,710of 20,598
    Most Researched60
  • #5,048of 5,498
    Most Pathogenic Variants1
  • #12,889of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedSUMF2
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
A comprehensive bioinformatics analysis of pathways and biomarkers shared between type 2 diabetes mellitus and chronic obstructive pulmonary disease.
PMID: 40787468
Front Immunol · 2025
1.00
2
Integrated analyses of Mendelian randomization, eQTL, and single-cell transcriptome identify CCN3 as a potential biomarker in aortic dissection.
PMID: 39738466
Sci Rep · 2024
0.90
3
TOX-induced lnc-SUMF2-8 compromises antitumor function and anti-PD-1 response of CD8
PMID: 40931520
Mol Ther · 2025
0.80
4
Differential DNA methylation analysis of
PMID: 35317099
World J Gastroenterol · 2022
0.70
5
SUMF2 interacts with interleukin-13 and inhibits interleukin-13 secretion in bronchial smooth muscle cells.
PMID: 19739097
J Cell Biochem · 2009
0.60