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 lum... See more...

Aliases for SUMF2 Gene

Aliases for SUMF2 Gene

  • Sulfatase Modifying Factor 2 2 3 5
  • Inactive C-Alpha-Formylglycine-Generating Enzyme 2 3 4
  • Paralog Of Formylglycine-Generating Enzyme 3 4
  • PFGE 3 4
  • Paralog Of The Formylglycine-Generating Enzyme 3
  • Epididymis Secretory Sperm Binding Protein 3
  • C-Alpha-Formylglycine-Generating Enzyme 2 3
  • C-Alpha-Formyglycine-Generating Enzyme 2 3
  • Sulfatase-Modifying Factor 2 4
  • DKFZp566I1024 2
  • SUMF2 5

External Ids for SUMF2 Gene

Previous GeneCards Identifiers for SUMF2 Gene

  • GC07P055839
  • GC07P055873
  • GC07P055906
  • GC07P056099
  • GC07P056132
  • GC07P055946
  • GC07P056135
  • GC07P056139
  • GC07P056144
  • GC07P056115
  • GC07P056140
  • GC07P056153

Summaries for SUMF2 Gene

Entrez Gene Summary for SUMF2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SUMF2 Gene

SUMF2 (Sulfatase Modifying Factor 2) is a Protein Coding gene. Diseases associated with SUMF2 include Multiple Sulfatase Deficiency and Phosphoserine Phosphatase Deficiency. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is SUMF1.

UniProtKB/Swiss-Prot Summary for SUMF2 Gene

  • Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1.

Gene Wiki entry for SUMF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUMF2 Gene

Genomics for SUMF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUMF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUMF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUMF2

Top Transcription factor binding sites by QIAGEN in the SUMF2 gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • Nkx2-5
  • p53
  • SEF-1 (1)

Genomic Locations for SUMF2 Gene

Latest Assembly
chr7:56,064,002-56,080,670
(GRCh38/hg38)
Size:
16,669 bases
Orientation:
Plus strand

Previous Assembly
chr7:56,131,979-56,148,363
(GRCh37/hg19 by Entrez Gene)
Size:
16,385 bases
Orientation:
Plus strand

chr7:56,131,695-56,148,363
(GRCh37/hg19 by Ensembl)
Size:
16,669 bases
Orientation:
Plus strand

Genomic View for SUMF2 Gene

Genes around SUMF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUMF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUMF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUMF2 Gene

Proteins for SUMF2 Gene

  • Protein details for SUMF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBJ7-SUMF2_HUMAN
    Recommended name:
    Inactive C-alpha-formylglycine-generating enzyme 2
    Protein Accession:
    Q8NBJ7
    Secondary Accessions:
    • B4DU41
    • B4DWQ0
    • Q14DW5
    • Q53ZE3
    • Q96BH2
    • Q9BRN3
    • Q9BWI1
    • Q9Y405

    Protein attributes for SUMF2 Gene

    Size:
    301 amino acids
    Molecular mass:
    33843 Da
    Quaternary structure:
    • Homodimer and heterodimer with SUMF1.
    SequenceCaution:
    • Sequence=AAH00224.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB43247.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB43247.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SUMF2 Gene

    Alternative splice isoforms for SUMF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUMF2 Gene

Post-translational modifications for SUMF2 Gene

  • Glycosylation at Asn191
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SUMF2_HUMAN (1773)

No data available for DME Specific Peptides for SUMF2 Gene

Domains & Families for SUMF2 Gene

Gene Families for SUMF2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SUMF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUMF2 Gene

GenScript: Design optimal peptide antigens:
  • C-alpha-formylglycine-generating enzyme 2 (SUMF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBJ7

UniProtKB/Swiss-Prot:

SUMF2_HUMAN :
  • The non-canonical ER retention motif mediates retention of the protein in the endoplasmic reticulum.
  • Belongs to the sulfatase-modifying factor family.
Domain:
  • The non-canonical ER retention motif mediates retention of the protein in the endoplasmic reticulum.
Family:
  • Belongs to the sulfatase-modifying factor family.
genes like me logo Genes that share domains with SUMF2: view

Function for SUMF2 Gene

Molecular function for SUMF2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SUMF2 Gene

Gene Ontology (GO) - Molecular Function for SUMF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SUMF2: view
genes like me logo Genes that share phenotypes with SUMF2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SUMF2

miRNA for SUMF2 Gene

miRTarBase miRNAs that target SUMF2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUMF2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SUMF2 Gene

Localization for SUMF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUMF2 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUMF2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 1
mitochondrion 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUMF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA 18266766
GO:0005788 endoplasmic reticulum lumen IEA,TAS --
genes like me logo Genes that share ontologies with SUMF2: view

Pathways & Interactions for SUMF2 Gene

genes like me logo Genes that share pathways with SUMF2: view

Gene Ontology (GO) - Biological Process for SUMF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with SUMF2: view

No data available for SIGNOR curated interactions for SUMF2 Gene

Drugs & Compounds for SUMF2 Gene

No Compound Related Data Available

Transcripts for SUMF2 Gene

mRNA/cDNA for SUMF2 Gene

10 REFSEQ mRNAs :
41 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUMF2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SUMF2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - -
SP6: - - - - - -
SP7: - -
SP8: -
SP9: -
SP10:
SP11:

Relevant External Links for SUMF2 Gene

GeneLoc Exon Structure for
SUMF2

Expression for SUMF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUMF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SUMF2 Gene

This gene is overexpressed in Testis (10.3) and Oral epithelium (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SUMF2 Gene



Protein tissue co-expression partners for SUMF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUMF2

SOURCE GeneReport for Unigene cluster for SUMF2 Gene:

Hs.279696

mRNA Expression by UniProt/SwissProt for SUMF2 Gene:

Q8NBJ7-SUMF2_HUMAN
Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in kidney, liver and placenta.

Evidence on tissue expression from TISSUES for SUMF2 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Intestine(4.4)
  • Eye(4.1)
  • Kidney(2.7)
  • Skin(2.7)
  • Muscle(2.4)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with SUMF2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUMF2 Gene

Orthologs for SUMF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SUMF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUMF2 30 31
  • 99.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUMF2 30 31
  • 88.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUMF2 30 31
  • 87.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sumf2 30
  • 84.18 (n)
Mouse
(Mus musculus)
Mammalia Sumf2 30 17 31
  • 83.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUMF2 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SUMF2 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUMF2 30 31
  • 74.14 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sumf2 30
  • 69.1 (n)
Str.20228 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15235 30
Zebrafish
(Danio rerio)
Actinopterygii sumf2 30 31
  • 69.82 (n)
OneToOne
Dr.18207 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10189 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7049 31
  • 29 (a)
OneToMany
Species where no ortholog for SUMF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SUMF2 Gene

ENSEMBL:
Gene Tree for SUMF2 (if available)
TreeFam:
Gene Tree for SUMF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUMF2: view image

Paralogs for SUMF2 Gene

Paralogs for SUMF2 Gene

(5) SIMAP similar genes for SUMF2 Gene using alignment to 14 proteins:

  • SUMF2_HUMAN
  • A8MXB9_HUMAN
  • C9J660_HUMAN
  • C9JL30_HUMAN
  • E9PBT8_HUMAN
  • E9PG02_HUMAN
  • F8WA42_HUMAN
  • F8WCW9_HUMAN
  • F8WES7_HUMAN
  • F8WEV7_HUMAN
  • F8WEX5_HUMAN
  • H7C3B2_HUMAN
  • J3KQJ1_HUMAN
  • J3QT17_HUMAN

Pseudogenes.org Pseudogenes for SUMF2 Gene

genes like me logo Genes that share paralogs with SUMF2: view

Variants for SUMF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUMF2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs146946713 Benign: not provided 56,073,066(+) CTT/C
NM_015411.4(SUMF2):c.296_297del (p.Phe99fs)
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
rs1584599101 Pathogenic: Multiple sulfatase deficiency 56,076,831(+) CA/C
NM_015411.4(SUMF2):c.536-2del
SPLICE_ACCEPTOR_VARIANT,INTRON
rs183275935 Likely Benign: not provided 56,079,817(+) T/A
NM_015411.4(SUMF2):c.*205T>A
NONSENSE,THREE_PRIME_UTR
rs760415764 Likely Benign: not provided 56,079,682(+) C/T
NM_015411.4(SUMF2):c.*70C>T
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs4245575 - p.Asp51Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUMF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SUMF2 Gene

Variant ID Type Subtype PubMed ID
dgv1201e199 CNV deletion 23128226
esv2734447 CNV deletion 23290073
esv2734448 CNV deletion 23290073
esv2761334 CNV gain 21179565
esv28230 CNV gain+loss 19812545
esv3576357 CNV gain 25503493
esv3613248 CNV gain 21293372
esv3613258 CNV gain 21293372
esv3613259 CNV gain 21293372
nsv981475 CNV duplication 23825009

Variation tolerance for SUMF2 Gene

Residual Variation Intolerance Score: 94.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUMF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUMF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUMF2 Gene

Disorders for SUMF2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SUMF2 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SUMF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SUMF2

genes like me logo Genes that share disorders with SUMF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUMF2 Gene

Publications for SUMF2 Gene

  1. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. (PMID: 12757706) Cosma MP … Ballabio A (Cell 2003) 2 3 4 74
  2. Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. (PMID: 15962010) Zito E … Cosma MP (EMBO reports 2005) 3 4 23
  3. SUMF2 interacts with interleukin-13 and inhibits interleukin-13 secretion in bronchial smooth muscle cells. (PMID: 19739097) Liang H … Liu F (Journal of cellular biochemistry 2009) 3 23
  4. Paralog of the formylglycine-generating enzyme--retention in the endoplasmic reticulum by canonical and noncanonical signals. (PMID: 18266766) Gande SL … Dierks T (The FEBS journal 2008) 3 4
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4

Products for SUMF2 Gene

Sources for SUMF2 Gene