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Aliases for SUMF2 Gene

Aliases for SUMF2 Gene

  • Sulfatase Modifying Factor 2 2 3 5
  • C-Alpha-Formylglycine-Generating Enzyme 2 3 4
  • Paralog Of The Formylglycine-Generating Enzyme 3
  • C-Alpha-Formyglycine-Generating Enzyme 2 3
  • PFGE 3

External Ids for SUMF2 Gene

Previous GeneCards Identifiers for SUMF2 Gene

  • GC07P055839
  • GC07P055873
  • GC07P055906
  • GC07P056099
  • GC07P056132
  • GC07P055946
  • GC07P056135
  • GC07P056139

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 ritter's disease. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is SUMF1.

UniProtKB/Swiss-Prot for SUMF2 Gene

  • Lacks formyl-glycine 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUMF2 Gene

Genomics for SUMF2 Gene

Regulatory Elements for SUMF2 Gene

Promoters for SUMF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SUMF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SUMF2 Gene

Chromosome:
7
Start:
56,064,002 bp from pter
End:
56,080,672 bp from pter
Size:
16,671 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:
    Sulfatase-modifying factor 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB43247.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB43247.1; Type=Frameshift; Positions=150, 187; 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

Proteomics data for SUMF2 Gene at MOPED

Post-translational modifications for SUMF2 Gene

  • Glycosylation at Asn 191
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SUMF2 (Sulfatase Modifying Factor 2/SUMF2)

No data available for DME Specific Peptides for SUMF2 Gene

Domains & Families for SUMF2 Gene

Protein Domains for SUMF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUMF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBJ7

UniProtKB/Swiss-Prot:

SUMF2_HUMAN :
  • Belongs to the sulfatase-modifying factor family.
Family:
  • Belongs to the sulfatase-modifying factor family.
genes like me logo Genes that share domains with SUMF2: view

No data available for Gene Families for SUMF2 Gene

Function for SUMF2 Gene

Molecular function for SUMF2 Gene

UniProtKB/Swiss-Prot Function:
Lacks formyl-glycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1.

Phenotypes for SUMF2 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for SUMF2

miRNA for SUMF2 Gene

miRTarBase miRNAs that target SUMF2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SUMF2 Gene COMPARTMENTS Subcellular localization image for SUMF2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
golgi apparatus 2
mitochondrion 2
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SUMF2 Gene

Pathways & Interactions for SUMF2 Gene

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

Interacting Proteins for SUMF2 Gene

Gene Ontology (GO) - Biological Process for SUMF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Unigene Clusters for SUMF2 Gene

Sulfatase modifying factor 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SUMF2

Expression for SUMF2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for SUMF2 Gene



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.
genes like me logo Genes that share expression patterns with SUMF2: view

Protein tissue co-expression partners for SUMF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.37 (n)
  • 98.44 (a)
SUMF2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SUMF2 36
  • 68 (a)
OneToOne
SUMF2 35
  • 88.7 (n)
  • 89.49 (a)
dog
(Canis familiaris)
Mammalia SUMF2 35
  • 87.51 (n)
  • 87.99 (a)
SUMF2 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sumf2 16
Sumf2 36
  • 60 (a)
OneToOne
Sumf2 35
  • 83.04 (n)
  • 84.7 (a)
oppossum
(Monodelphis domestica)
Mammalia SUMF2 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUMF2 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sumf2 35
  • 84.18 (n)
  • 85.51 (a)
chicken
(Gallus gallus)
Aves SUMF2 36
  • 53 (a)
OneToOne
SUMF2 35
  • 74.14 (n)
  • 76.84 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15235 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20228 35
sumf2 35
  • 69.1 (n)
  • 72.63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10189 35
zebrafish
(Danio rerio)
Actinopterygii sumf2 36
  • 47 (a)
OneToOne
Dr.18207 35
sumf2 35
  • 69.82 (n)
  • 71.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7049 36
  • 29 (a)
OneToMany
Species with no ortholog for SUMF2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SUMF2 Gene

Paralogs for SUMF2 Gene

Pseudogenes.org Pseudogenes for SUMF2 Gene

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

Variants for SUMF2 Gene

Sequence variations from dbSNP and Humsavar for SUMF2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs4245575 - 56,068,567(+) GGTGA(A/C/G)GGGCC intron-variant, nc-transcript-variant, reference, missense
rs4345511 -- 56,067,765(+) GTGCA(C/T)ACTTG intron-variant
rs4585698 -- 56,066,572(+) CTTCC(C/G/T)GAGTA intron-variant
rs4948104 -- 56,074,826(+) GGCGC(A/C/G)GTGGC intron-variant
rs7793614 -- 56,065,511(+) aggga(C/T)aaaat intron-variant

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

Variant ID Type Subtype PubMed ID
esv28230 CNV Gain+Loss 19812545
esv2734447 CNV Deletion 23290073
dgv1201e199 CNV Deletion 23128226
esv2734448 CNV Deletion 23290073

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)

Relevant External Links for SUMF2 Gene

HapMap Linkage Disequilibrium report
SUMF2

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

Disorders for SUMF2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SUMF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multiple sulfatase deficiency
  • mucosulfatidosis
ritter's disease
  • dermatitis exfoliativa neonatorum
primary bacterial infectious disease
- elite association - COSMIC cancer census association via MalaCards
Search SUMF2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SUMF2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.P. … Ballabio A. (Cell 2003) 2 3 4 67
  2. SUMF2 interacts with interleukin-13 and inhibits interleukin-13 secretion in bronchial smooth muscle cells. (PMID: 19739097) Liang H. … Liu F. (J. Cell. Biochem. 2009) 3 23
  3. Sulphatase activities are regulated by the interaction of sulphatase- modifying factor 1 with SUMF2. (PMID: 15962010) Zito E. … Cosma M.P. (EMBO Rep. 2005) 3 23
  4. The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes. (PMID: 14563551) Landgrebe J. … von Figura K. (Gene 2003) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SUMF2 Gene

Sources for SUMF2 Gene

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