SUMF2

Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene.^[5][6]

PDBOrtholog search: PDBe RCSB

AliasesSUMF2, pFGE, sulfatase modifying factor 2

External IDsOMIM: 607940; MGI: 1915152; HomoloGene: 41037; GeneCards: SUMF2; OMA:SUMF2 - orthologs

Chr.Chromosome 7 (human)^[1]

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SUMF2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Y4J
Identifiers
Aliases	SUMF2, pFGE, sulfatase modifying factor 2
External IDs	OMIM: 607940; MGI: 1915152; HomoloGene: 41037; GeneCards: SUMF2; OMA:SUMF2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p11.2 Start 56,064,002 bp[1] End 56,080,670 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G1.3 Start 129,846,986 bp[2] End 129,864,050 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube stromal cell of endometrium body of pancreas gallbladder canal of the cervix islet of Langerhans pancreatic ductal cell right adrenal cortex gastric mucosa rectum Top expressed in hand yolk sac external carotid artery internal carotid artery renal corpuscle cumulus cell proximal tubule neural tube medullary collecting duct condyle More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding Cellular component endoplasmic reticulum lumen endoplasmic reticulum Biological process post-translational protein modification glycosphingolipid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25870 67902 Ensembl ENSG00000129103 ENSMUSG00000025538 UniProt Q8NBJ7 Q8BPG6 RefSeq (mRNA) NM_001042468 NM_001042469 NM_001042470 NM_001130069 NM_001130070 NM_001146333 NM_015411 NM_001366647 NM_001366648 NM_001366649 NM_026445 RefSeq (protein) NP_001035934 NP_001035935 NP_001123541 NP_001139805 NP_056226 NP_001035933 NP_001353576 NP_001353577 NP_001353578 NP_080721 Location (UCSC) Chr 7: 56.06 – 56.08 Mb Chr 5: 129.85 – 129.86 Mb PubMed search [3] [4]
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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 record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.^[6]