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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 63
  • H-Lse 3 4
  • YSG2 3 4
  • Cytosolic Sialic Acid 9-O-Acetylesterase Homolog 3
  • Sialic Acid-Specific 9-O-Acetylesterase 4
  • 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 Marasmus. 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.

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

Genomics for SIAE Gene

Regulatory Elements for SIAE Gene

Enhancers for SIAE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SIAE on UCSC Golden Path with GeneCards custom track

Genomic Location for SIAE Gene

124,633,113 bp from pter
124,695,707 bp from pter
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

Proteomics data for SIAE Gene at MOPED

Selected DME Specific Peptides for SIAE Gene

Post-translational modifications for SIAE Gene

  • Glycosylation at Asn 107, Asn 138, Asn 267, Asn 290, Asn 401, and Asn 422
  • Modification sites at PhosphoSitePlus

Other Protein References for SIAE Gene

Domains & Families for SIAE Gene

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 Gene Families and 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

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

No data available for Gene Ontology (GO) - Molecular Function , 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

Jensen Localization Image for SIAE Gene COMPARTMENTS Subcellular localization image for SIAE gene
Compartment Confidence
extracellular 5
lysosome 4
vacuole 4
cytosol 2
endoplasmic reticulum 2
nucleus 2

Gene Ontology (GO) - Cellular Components for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with SIAE: view

Pathways & Interactions for SIAE Gene

SuperPathways for SIAE Gene

No Data Available

Interacting Proteins for SIAE Gene

Gene Ontology (GO) - Biological Process for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
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

(1) Drugs for SIAE Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Nutra Full agonist, Agonist 97

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylneuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-delta-glycero-beta-delta-galacto-2-Nonulopyranosonate
  • Dihydrogen oxide
  • Steam
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:

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 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, MOPED, and MaxQB for SIAE Gene

SOURCE GeneReport for Unigene cluster for SIAE Gene Hs.10056

mRNA Expression by UniProt/SwissProt for SIAE Gene

Tissue specificity: Widely expressed with high expression in the testis, prostate, and colon.
genes like me logo Genes that share expression patterns with SIAE: view

Protein tissue co-expression partners for SIAE Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
(Bos Taurus)
Mammalia SIAE 35
  • 81.1 (n)
  • 77.78 (a)
  • 76 (a)
(Canis familiaris)
Mammalia SIAE 35
  • 84.68 (n)
  • 81.73 (a)
  • 68 (a)
(Mus musculus)
Mammalia Siae 35
  • 82.73 (n)
  • 80.8 (a)
Siae 16
Siae 36
  • 76 (a)
(Pan troglodytes)
Mammalia SIAE 35
  • 99.17 (n)
  • 99.04 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Siae 35
  • 82.4 (n)
  • 81.2 (a)
(Monodelphis domestica)
Mammalia SIAE 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia SIAE 36
  • 59 (a)
(Anolis carolinensis)
Reptilia SIAE 36
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493404 35
  • 57.42 (n)
  • 55.07 (a)
Str.14836 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68688 35
(Danio rerio)
Actinopterygii siae 35
  • 56.94 (n)
  • 51.76 (a)
zgc56454 35
siae 36
  • 50 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10577 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
-- 36
  • 32 (a)
-- 36
  • 48 (a)
-- 36
  • 37 (a)
-- 36
  • 41 (a)
-- 36
  • 40 (a)
Species with no ortholog for SIAE:
  • 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 Sequence Context AA Info Type
rs12282107 - 124,669,377(+) TCACT(C/T)TCTTC reference, missense
rs7941523 - 124,637,123(+) CGATC(A/G)CCAGG reference, missense
VAR_064438 -
VAR_064439 -
VAR_064440 -

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

Variant ID Type Subtype PubMed ID
esv2678188 CNV Deletion 23128226

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)

Relevant External Links for SIAE Gene

Human Gene Mutation Database (HGMD)

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

Disorders for SIAE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autoimmune disease 6
  • autoimmune disease, susceptibility to, 6
  • nutritional atrophy
  • kwashiokor
- 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.

Relevant External Links for SIAE

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 48 67
  2. Lysosomal and cytosolic sialic acid 9-O-acetylesterase activities can Be encoded by one gene via differential usage of a signal peptide-encoding exon at the N terminus. (PMID: 10464298) Takematsu H. … Varki A. (J. Biol. Chem. 1999) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genetic determinants influencing human serum metabolome among African Americans. (PMID: 24625756) Yu B. … Boerwinkle E. (PLoS Genet. 2014) 3
  5. A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. (PMID: 24748456) Yamamoto M. … Takahashi Y. (Endocr. J. 2014) 3

Products for SIAE Gene

Sources for SIAE Gene