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Aliases for SIAE Gene

Aliases for SIAE Gene

  • Sialic Acid Acetylesterase 2 3 5
  • Sialic Acid-Specific Acetylesterase II 2 3
  • EC 4 56
  • H-Lse 3 4
  • YSG2 3 4
  • Cytosolic Sialic Acid 9-O-Acetylesterase Homolog 3
  • Sialic Acid-Specific 9-O-Acetylesterase 4
  • Sialate O-Acetylesterase 3
  • Ysg2 Homolog (Mouse) 2
  • CSE-C 3
  • AIS6 3
  • CSEC 3
  • LSE 3

External Ids for SIAE Gene

Previous HGNC Symbols for SIAE Gene

  • YSG2

Previous GeneCards Identifiers for SIAE Gene

  • GC11M124011
  • GC11M124505
  • GC11M120448

Summaries for SIAE Gene

Entrez Gene Summary for SIAE Gene

  • This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

GeneCards Summary for SIAE Gene

SIAE (Sialic Acid Acetylesterase) is a Protein Coding gene. Diseases associated with SIAE include Autoimmune Disease 6 and Autoimmune Disease. Gene Ontology (GO) annotations related to this gene include sialate O-acetylesterase activity.

UniProtKB/Swiss-Prot for SIAE Gene

  • Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.

Additional gene information for SIAE Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIAE Gene

Genomics for SIAE Gene

GeneHancer (GH) Regulatory Elements for SIAE Gene

Promoters and enhancers for SIAE Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I124717 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.2 -22.2 -22228 1.3 KLF17 MZF1 ZNF76 FEZF1 BATF IRF4 ZNF335 GLIS2 ZNF366 SCRT2 SPA17 ESAM NRGN ENSG00000255045 VSIG2 SIAE LOC101929340 ROBO3 ROBO4 GC11P124740
GH11I124768 Enhancer 0.9 ENCODE dbSUPER 11.7 -74.9 -74905 3.3 JUN ZNF384 TEAD3 FOSL1 ZFHX2 ZNF316 EGR1 FOSL2 FOS EGR2 NRGN SIAE SPA17 LOC100507283 MSANTD2 ROBO3 VSIG2 ESAM ENSG00000254509
GH11I124836 Enhancer 0.9 Ensembl ENCODE 11.3 -141.4 -141372 2 CTCF ZSCAN4 ZNF384 BATF RAD21 ZNF335 ZFHX2 VEZF1 SMC3 ZNF143 ROBO3 MSANTD2 LOC100507283 SIAE SPA17 ESAM LOC101929340 VSIG2 ENSG00000255045 NRGN
GH11I124793 Enhancer 0.6 ENCODE 11.4 -98.2 -98153 0.2 CTCF PKNOX1 ZNF654 NR2F1 TRIM22 ZNF384 EP300 RAD21 KLF16 SCRT2 ENSG00000279342 LOC101929340 ESAM VSIG2 ENSG00000255045 SIAE SPA17 NRGN ROBO3 LOC100507283
GH11I124844 Enhancer 0.5 ENCODE 10.6 -147.6 -147553 0.2 POLR2A L3MBTL2 CTBP2 EZH2 GC11M124844 ROBO3 SIAE SPA17 ENSG00000254943 NRGN ROBO4 GC11M124812
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIAE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIAE gene promoter:

Genomic Locations for SIAE Gene

Genomic Locations for SIAE Gene
62,595 bases
Minus strand

Genomic View for SIAE Gene

Genes around SIAE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SIAE Gene

Proteins for SIAE Gene

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

    Protein Symbol:
    Recommended name:
    Sialate O-acetylesterase
    Protein Accession:
    Secondary Accessions:
    • B3KPB0
    • Q8IUT9
    • Q9HAU7
    • Q9NT71

    Protein attributes for SIAE Gene

    523 amino acids
    Molecular mass:
    58315 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SIAE Gene


neXtProt entry for SIAE Gene

Selected DME Specific Peptides for SIAE Gene


Post-translational modifications for SIAE Gene

  • Glycosylation at posLast=107107, isoforms=2138, posLast=267267, isoforms=2290, posLast=401401, and isoforms=2422
  • Modification sites at PhosphoSitePlus

Other Protein References for SIAE Gene

Domains & Families for SIAE Gene

Gene Families for SIAE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SIAE Gene


Suggested Antigen Peptide Sequences for SIAE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SIAE: view

No data available for UniProtKB/Swiss-Prot for SIAE Gene

Function for SIAE Gene

Molecular function for SIAE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
N-acetyl-O-acetylneuraminate + H(2)O = N-acetylneuraminate + acetate.
UniProtKB/Swiss-Prot Function:
Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.

Enzyme Numbers (IUBMB) for SIAE Gene

Phenotypes From GWAS Catalog for SIAE Gene

Gene Ontology (GO) - Molecular Function for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001681 sialate O-acetylesterase activity IDA 23308225
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with SIAE: view
genes like me logo Genes that share phenotypes with SIAE: view

Animal Models for SIAE Gene

MGI Knock Outs for SIAE:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIAE Gene

Localization for SIAE Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIAE Gene

Lysosome. Secreted.

Subcellular locations from

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 SIAE gene
Compartment Confidence
extracellular 5
lysosome 4
cytosol 3
nucleus 2
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA,HDA 16502470
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with SIAE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIAE Gene

Pathways & Interactions for SIAE Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002682 regulation of immune system process IMP 20555325
GO:0005975 carbohydrate metabolic process IDA 23308225
genes like me logo Genes that share ontologies with SIAE: view

No data available for Pathways by source and SIGNOR curated interactions for SIAE Gene

Drugs & Compounds for SIAE Gene

(3) Drugs for SIAE Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 116
Aceneuramic acid Investigational Pharma 0

(1) Additional Compounds for SIAE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SIAE: view

Transcripts for SIAE Gene

Unigene Clusters for SIAE Gene

Sialic acid acetylesterase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SIAE Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SIAE Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SIAE Gene

This gene is overexpressed in Bone marrow stromal cell (6.8) and Urine (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SIAE Gene

Protein tissue co-expression partners for SIAE Gene

NURSA nuclear receptor signaling pathways regulating expression of SIAE Gene:


SOURCE GeneReport for Unigene cluster for SIAE Gene:


mRNA Expression by UniProt/SwissProt for SIAE Gene:

Tissue specificity: Widely expressed with high expression in the testis, prostate, and colon.

Evidence on tissue expression from TISSUES for SIAE Gene

  • Nervous system(4.7)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with SIAE: view

Primer Products

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

Orthologs for SIAE Gene

This gene was present in the common ancestor of chordates.

Orthologs for SIAE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SIAE 33 34
  • 99.17 (n)
(Canis familiaris)
Mammalia SIAE 33 34
  • 84.68 (n)
(Mus musculus)
Mammalia Siae 33 16 34
  • 82.73 (n)
(Rattus norvegicus)
Mammalia Siae 33
  • 82.4 (n)
(Bos Taurus)
Mammalia SIAE 33 34
  • 81.1 (n)
(Monodelphis domestica)
Mammalia SIAE 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia SIAE 34
  • 59 (a)
(Anolis carolinensis)
Reptilia SIAE 34
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493404 33
  • 57.42 (n)
Str.14836 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68688 33
(Danio rerio)
Actinopterygii siae 33 34
  • 56.94 (n)
zgc56454 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10577 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
-- 34
  • 41 (a)
-- 34
  • 40 (a)
-- 34
  • 39 (a)
-- 34
  • 37 (a)
-- 34
  • 32 (a)
Species where no ortholog for SIAE was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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 SIAE Gene

Gene Tree for SIAE (if available)
Gene Tree for SIAE (if available)

Paralogs for SIAE Gene

No data available for Paralogs for SIAE Gene

Variants for SIAE Gene

Sequence variations from dbSNP and Humsavar for SIAE Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs143070599 risk-factor, Autoimmune disease 6, Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,754(-) C/A coding_sequence_variant, missense_variant
rs144510878 risk-factor, Autoimmune disease 6 124,647,396(-) G/A coding_sequence_variant, missense_variant
rs149466359 uncertain-significance, not specified, Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,707(-) C/T coding_sequence_variant, missense_variant
rs200862001 Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,653(-) G/A coding_sequence_variant, missense_variant
rs201877149 risk-factor, Autoimmune disease 6, Autoimmune disease 6 (AIS6) [MIM:613551] 124,638,651(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2678188 CNV deletion 23128226
esv3627985 CNV loss 21293372
nsv1045156 CNV loss 25217958

Variation tolerance for SIAE Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.73; 78.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIAE Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for SIAE Gene

MalaCards: The human disease database

(2) MalaCards diseases for SIAE Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoimmune disease 6
  • autoimmune disease, susceptibility to, 6
autoimmune disease
  • hypersensitivity reaction type ii disease
- elite association - COSMIC cancer census association via MalaCards
Search SIAE in MalaCards View complete list of genes associated with diseases


  • Autoimmune disease 6 (AIS6) [MIM:613551]: Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease. {ECO:0000269 PubMed:20555325}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for SIAE

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIAE: view

No data available for Genatlas for SIAE Gene

Publications for SIAE Gene

  1. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. (PMID: 20555325) Surolia I … Pillai S (Nature 2010) 3 4 44 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PMID: 18711365) Ferreira MA … Wellcome Trust Case Control Consortium (Nature genetics 2008) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. A Gene Encoding Sialic-Acid-Specific 9-O-Acetylesterase Found in Human Adult Testis. (PMID: 15292578) Zhu H … Sha J (Journal of biomedicine & biotechnology 2004) 3 4 58

Products for SIAE Gene

Sources for SIAE Gene

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