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] See more...

Aliases for SIAE Gene

Aliases for SIAE Gene

  • Sialic Acid Acetylesterase 2 3 5
  • Sialic Acid-Specific Acetylesterase II 2 3
  • Sialate O-Acetylesterase 3 4
  • EC 3.1.1.53 4 52
  • 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 Autoimmune Disease. Gene Ontology (GO) annotations related to this gene include sialate O-acetylesterase activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J124672 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +22.0 22038 3.1 FOXK2 ZBTB40 EP300 SIN3A POLR2G SP1 GTF2E2 JUND POLR2A ZBTB11 SPA17 SIAE NRGN lnc-SIAE-1 piR-33795
GH11J124745 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 500.2 -52.3 -52317 4.4 CTCF POLR2G TEAD4 ZIC2 ZBTB10 POLR2A ZBTB26 TRIM28 SAP30 ZBTB25 ENSG00000255045 SIAE VSIG2 NRGN LOC100507283 NONHSAG009936.2
GH11J124694 Enhancer 0.2 Ensembl 500.7 +1.1 1106 0.4 SIAE lnc-SIAE-1 SPA17
GH11J124717 Enhancer 1 FANTOM5 ENCODE 12.2 -22.2 -22175 1.2 ZNF639 EP300 ZIC2 ZNF423 ZBTB26 RCOR1 EZH2 ZNF341 OSR2 BCL11A ESAM NRGN ENSG00000255045 SIAE VSIG2 ENSG00000250073 SPA17 ROBO3 ROBO4 NONHSAG009936.2
GH11J124836 Promoter/Enhancer 1 ENCODE CraniofacialAtlas 11.3 -141.2 -141194 1.6 CTCF REST DNMT1 KLF7 RAD21 SMC3 KLF9 ZFHX2 BATF ZNF335 ROBO3 LOC100507283 MSANTD2 SIAE SPA17 ESAM ENSG00000250073 VSIG2 ENSG00000255045 NRGN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIAE on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the SIAE gene promoter:
  • AML1a
  • COMP1
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-1
  • Lmo2
  • NF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP

Genomic Locations for SIAE Gene

Genomic Locations for SIAE Gene
chr11:124,633,113-124,695,707
(GRCh38/hg38)
Size:
62,595 bases
Orientation:
Minus strand
chr11:124,503,009-124,565,603
(GRCh37/hg19)
Size:
62,595 bases
Orientation:
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:
    Q9HAT2-SIAE_HUMAN
    Recommended name:
    Sialate O-acetylesterase
    Protein Accession:
    Q9HAT2
    Secondary Accessions:
    • B3KPB0
    • Q8IUT9
    • Q9HAU7
    • Q9NT71

    Protein attributes for SIAE Gene

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

    Alternative splice isoforms for SIAE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIAE Gene

Selected DME Specific Peptides for SIAE Gene

Q9HAT2:
  • LQYPIGL
  • LKGVVWYQGE
  • HSVLWNAMI

Post-translational modifications for SIAE Gene

  • Glycosylation at Asn107, Asn138, Asn267, Asn290, Asn401, and Asn422
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

Protein Domains for SIAE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIAE Gene

GenScript: Design optimal peptide antigens:
  • Sialic acid-specific 9-O-acetylesterase (SIAE_HUMAN)
genes like me logo Genes that share domains with SIAE: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SIAE Gene

Function for SIAE Gene

Molecular function for SIAE Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acetyl-9-O-acetylneuraminate = acetate + H(+) + N-acetylneuraminate; Xref=Rhea:RHEA:22600, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28999, ChEBI:CHEBI:30089, ChEBI:CHEBI:35418; EC=3.1.1.53;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acetyl-4-O-acetylneuraminate = acetate + H(+) + N-acetylneuraminate; Xref=Rhea:RHEA:25564, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29006, ChEBI:CHEBI:30089, ChEBI:CHEBI:35418; EC=3.1.1.53;.

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:
  • Siae Siae<tm1.2Avrk>
  • Siae Siae<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone 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

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 SIAE gene
Compartment Confidence
extracellular 5
lysosome 4
nucleus 3
cytosol 3
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1

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 HDA 16502470
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome HDA 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

PathCards logo

SuperPathways 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
acetic acid Approved Pharma Full agonist, Agonist 141
Water Approved Pharma 0
Aceneuramic acid Investigational Pharma 0

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

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

Transcripts for SIAE Gene

mRNA/cDNA for SIAE Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for SIAE Gene

GeneLoc Exon Structure for
SIAE

Expression for SIAE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SIAE Gene



Protein tissue co-expression partners for SIAE Gene

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

SOURCE GeneReport for Unigene cluster for SIAE Gene:

Hs.10056

mRNA Expression by UniProt/SwissProt for SIAE Gene:

Q9HAT2-SIAE_HUMAN
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

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
chimpanzee
(Pan troglodytes)
Mammalia SIAE 31 30
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SIAE 31 30
  • 84.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Siae 17 31 30
  • 82.73 (n)
rat
(Rattus norvegicus)
Mammalia Siae 30
  • 82.4 (n)
cow
(Bos Taurus)
Mammalia SIAE 31 30
  • 81.1 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIAE 31
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIAE 31
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIAE 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493404 30
  • 57.42 (n)
Str.14836 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68688 30
zebrafish
(Danio rerio)
Actinopterygii siae 31 30
  • 56.94 (n)
OneToOne
zgc56454 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10577 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
-- 31
  • 40 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
-- 31
  • 32 (a)
OneToMany
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

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

Paralogs for SIAE Gene

No data available for Paralogs for SIAE Gene

Variants for SIAE Gene

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

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs143070599 Risk Factor: Autoimmune disease 6. Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,754(-) C/Ap.Cys196Phe MISSENSE_VARIANT
rs144510878 Risk Factor: Autoimmune disease 6. - 124,647,396(-) G/Ap.Thr312Met MISSENSE_VARIANT
rs149466359 Uncertain Significance: not provided. Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,707(-) C/Tp.Gly212Arg MISSENSE_VARIANT
rs200862001 Autoimmune disease 6 (AIS6) [MIM:613551] p.Arg230Trp
rs201877149 Risk Factor: Autoimmune disease 6. Autoimmune disease 6 (AIS6) [MIM:613551] 124,638,651(-) A/Gp.Phe404Ser MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SIAE Gene

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)
SIAE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIAE

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

(5) MalaCards diseases for SIAE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoimmune disease 6
  • autoimmune disease, susceptibility to, 6
autoimmune disease
  • autoimmune hypersensitivity disease
anti-pit-1 antibody syndrome
rheumatoid arthritis
  • ra
spindle cell hemangioma
  • sch
- elite association - COSMIC cancer census association via MalaCards
Search SIAE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SIAE_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 41 54
  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 41 54
  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 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for SIAE Gene

Sources for SIAE Gene