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Gene Gene information from NCBI Gene database.
Entrez ID 25870
Gene name Sulfatase modifying factor 2
Gene symbol SUMF2
Synonyms (NCBI Gene)
pFGE
Chromosome 7
Chromosome location 7p11.2
Summary The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this rec
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1584599101 A>- Pathogenic Intron variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
418 Show/Hide all (418)
miRTarBase ID miRNA Experiments Reference
MIRT019274 hsa-miR-148b-3p Microarray 17612493
MIRT021342 hsa-miR-9-5p Microarray 17612493
MIRT453091 hsa-miR-302f PAR-CLIP 20371350
MIRT550164 hsa-miR-3922-5p PAR-CLIP 20371350
MIRT453085 hsa-miR-6840-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10 Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15962010, 32814053, 32838362, 33845483, 36217030
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 18266766
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607940 20415 ENSG00000129103
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NBJ7
Protein name Inactive C-alpha-formylglycine-generating enzyme 2 (Paralog of formylglycine-generating enzyme) (pFGE) (Sulfatase-modifying factor 2)
Protein function Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. {ECO:0000269|PubMed:12757706, ECO:0000269|PubMed:15708861, ECO:0000269|P
PDB 1Y4J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03781 FGE-sulfatase 26 → 292 Sulfatase-modifying factor enzyme 1 Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in kidney, liver and placenta. {ECO:0000269|PubMed:15708861, ECO:0000269|PubMed:15962010}.
Sequence
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Glycosphingolipid metabolism
The activation of arylsulfatases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple sulfatase deficiency Pathogenic rs1584599101 RCV000002797
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Ovarian serous cystadenocarcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUMF2-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (23)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Dissection Aortic dissection Pubtator 39738466 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 17510276
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 1975092
★★★★★
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 19755166
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31445671
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35317099 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 21257989 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 19024606, 19449044, 21921114, 23105019, 2565081
★★★★★
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 30598261 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cystitis Cystitis BEFREE 27130992
★★★★★
★☆☆☆☆
Found in Text Mining only