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Aliases for ST8SIA2 Gene

Aliases for ST8SIA2 Gene

  • ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2 2 3 5
  • ST8 Alpha-N-Acetylneuraminate Alpha-2,8-Sialyltransferase 2 2 3
  • Sialyltransferase 8 (Alpha-2, 8-Sialytransferase) B 2 3
  • Sialyltransferase St8Sia II 3 4
  • Sialyltransferase 8B 3 4
  • Sialyltransferase X 3 4
  • ST8SiaII 3 4
  • SIAT8-B 3 4
  • SIAT8B 3 4
  • STX 3 4
  • Alpha-2,8-Sialyltransferase 8B 1 3
  • Alpha-2,8-Sialyltransferase 8B 3
  • EC 2.4.99.- 4
  • ST8SIA-II 3
  • EC 2.4.99 61
  • HsT19690 3

External Ids for ST8SIA2 Gene

Previous HGNC Symbols for ST8SIA2 Gene

  • SIAT8B

Previous GeneCards Identifiers for ST8SIA2 Gene

  • GC15P090739
  • GC15P092937
  • GC15P069073

Summaries for ST8SIA2 Gene

Entrez Gene Summary for ST8SIA2 Gene

  • The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]

GeneCards Summary for ST8SIA2 Gene

ST8SIA2 (ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2) is a Protein Coding gene. Diseases associated with ST8SIA2 include Eumycotic Mycetoma and Spastic Ataxia, Charlevoix-Saguenay Type. Among its related pathways are terminal O-glycans residues modification and N-glycan antennae elongation in the medial/trans-Golgi. GO annotations related to this gene include sialyltransferase activity and alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity. An important paralog of this gene is ST8SIA4.

UniProtKB/Swiss-Prot for ST8SIA2 Gene

  • May transfer sialic acid through alpha-2,8-linkages to the alpha-2,3-linked and alpha-2,6-linked sialic acid of N-linked oligosaccharides of glycoproteins and may be involved in PSA (polysialic acid) expression.

Gene Wiki entry for ST8SIA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST8SIA2 Gene

Genomics for ST8SIA2 Gene

Regulatory Elements for ST8SIA2 Gene

Enhancers for ST8SIA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G092664 1.4 Ensembl ENCODE dbSUPER 9.7 +272.6 272587 4.3 HDGF FOXA2 KLF17 SIN3A FEZF1 RAD21 RARA YY1 SCRT2 FOS FAM174B ST8SIA2 LOC105370975 PIR42313 GC15M095955
GH15G092095 1.2 FANTOM5 ENCODE 10.7 -297.8 -297844 1.2 PKNOX1 USF1 NFIB ZBTB7B GATA3 POLR2A PRDM10 ZNF263 MAZ ZNF687 ST8SIA2 SLCO3A1 GC15P092170
GH15G092118 1 Ensembl ENCODE 10.3 -275.2 -275196 1.1 HDAC1 ATF1 ETV1 TEAD4 CEBPG GATA3 KDM5B TRIM24 L3MBTL2 BHLHE40 ST8SIA2 GC15P092170 SLCO3A1
GH15G092365 0.8 ENCODE 12 -28.6 -28623 0.2 MAX KLF17 RAD21 YY1 GATA3 HNF4G FOSL2 FOS ZNF652 ZNF263 ST8SIA2 ENSG00000260661
GH15G092429 0.8 ENCODE 11.5 +36.0 36008 1.3 HDAC1 PKNOX1 BACH1 FOSL1 ZNF316 FOS TRIM24 NFE2 MAFK NFE2L2 ST8SIA2 ENO1P2 GC15P092447
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ST8SIA2 on UCSC Golden Path with GeneCards custom track

Promoters for ST8SIA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000081272 272 601 CTCF MXI1 KLF1 RBBP5 ZIC2 GLIS2 POLR2A PATZ1 ZNF600 ZBTB20

Genomic Location for ST8SIA2 Gene

Chromosome:
15
Start:
92,393,828 bp from pter
End:
92,468,728 bp from pter
Size:
74,901 bases
Orientation:
Plus strand

Genomic View for ST8SIA2 Gene

Genes around ST8SIA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST8SIA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST8SIA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST8SIA2 Gene

Proteins for ST8SIA2 Gene

  • Protein details for ST8SIA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92186-SIA8B_HUMAN
    Recommended name:
    Alpha-2,8-sialyltransferase 8B
    Protein Accession:
    Q92186
    Secondary Accessions:
    • Q4VAZ0
    • Q92470
    • Q92746

    Protein attributes for ST8SIA2 Gene

    Size:
    375 amino acids
    Molecular mass:
    42430 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ST8SIA2 Gene

Selected DME Specific Peptides for ST8SIA2 Gene

Q92186:
  • HAVRGYWLTNKV
  • TGLLMYTLATRFC
  • LYGFWPF
  • VRTAYPSL

Post-translational modifications for ST8SIA2 Gene

  • Glycosylation at Asn60, Asn72, posLast=8989, Asn134, isoforms=219, and Asn234
  • Modification sites at PhosphoSitePlus

Other Protein References for ST8SIA2 Gene

Domains & Families for ST8SIA2 Gene

Gene Families for ST8SIA2 Gene

Protein Domains for ST8SIA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92186

UniProtKB/Swiss-Prot:

SIA8B_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST8SIA2: view

Function for ST8SIA2 Gene

Molecular function for ST8SIA2 Gene

UniProtKB/Swiss-Prot Function:
May transfer sialic acid through alpha-2,8-linkages to the alpha-2,3-linked and alpha-2,6-linked sialic acid of N-linked oligosaccharides of glycoproteins and may be involved in PSA (polysialic acid) expression.

Enzyme Numbers (IUBMB) for ST8SIA2 Gene

Gene Ontology (GO) - Molecular Function for ST8SIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity TAS --
GO:0008373 sialyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0033691 sialic acid binding IC 10766765
genes like me logo Genes that share ontologies with ST8SIA2: view
genes like me logo Genes that share phenotypes with ST8SIA2: view

Animal Models for ST8SIA2 Gene

MGI Knock Outs for ST8SIA2:

Animal Model Products

CRISPR Products

miRNA for ST8SIA2 Gene

miRTarBase miRNAs that target ST8SIA2

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ST8SIA2 Gene

Localization for ST8SIA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST8SIA2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

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 ST8SIA2 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
cytoskeleton 3
endosome 3
plasma membrane 2
endoplasmic reticulum 2
cytosol 2
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ST8SIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005769 early endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ST8SIA2: view

Pathways & Interactions for ST8SIA2 Gene

genes like me logo Genes that share pathways with ST8SIA2: view

UniProtKB/Swiss-Prot Q92186-SIA8B_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ST8SIA2 Gene

Gene Ontology (GO) - Biological Process for ST8SIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process IDA 10766765
GO:0005975 carbohydrate metabolic process TAS 7559389
GO:0006464 cellular protein modification process TAS 7559389
GO:0006486 protein glycosylation IEA --
GO:0006491 N-glycan processing IDA 10766765
genes like me logo Genes that share ontologies with ST8SIA2: view

No data available for SIGNOR curated interactions for ST8SIA2 Gene

Drugs & Compounds for ST8SIA2 Gene

(1) Drugs for ST8SIA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ST8SIA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ST8SIA2: view

Transcripts for ST8SIA2 Gene

Unigene Clusters for ST8SIA2 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST8SIA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for ST8SIA2 Gene

GeneLoc Exon Structure for
ST8SIA2
ECgene alternative splicing isoforms for
ST8SIA2

Expression for ST8SIA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ST8SIA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST8SIA2 Gene

This gene is overexpressed in Heart - Left Ventricle (x9.3), Brain - Hypothalamus (x5.8), Brain - Hippocampus (x5.1), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ST8SIA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ST8SIA2 Gene:

ST8SIA2

SOURCE GeneReport for Unigene cluster for ST8SIA2 Gene:

Hs.302341

mRNA Expression by UniProt/SwissProt for ST8SIA2 Gene:

Q92186-SIA8B_HUMAN
Tissue specificity: Highly expressed in fetal brain, kidney and heart and to a much lesser extent in adult heart and thymus.

Evidence on tissue expression from TISSUES for ST8SIA2 Gene

  • Nervous system(4.7)
  • Kidney(3)
  • Intestine(2.5)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ST8SIA2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ST8SIA2 Gene

Orthologs for ST8SIA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST8SIA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ST8SIA2 34 35
  • 99.2 (n)
oppossum
(Monodelphis domestica)
Mammalia ST8SIA2 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ST8SIA2 34 35
  • 92.62 (n)
dog
(Canis familiaris)
Mammalia ST8SIA2 34 35
  • 92.47 (n)
mouse
(Mus musculus)
Mammalia St8sia2 34 16 35
  • 92.18 (n)
rat
(Rattus norvegicus)
Mammalia St8sia2 34
  • 91.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ST8SIA2 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST8SIA2 34 35
  • 84.44 (n)
lizard
(Anolis carolinensis)
Reptilia ST8SIA2 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st8sia2 34
  • 73.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397702 34
zebrafish
(Danio rerio)
Actinopterygii st8sia2 34 35
  • 62.99 (n)
siat8 34
Species where no ortholog for ST8SIA2 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 ST8SIA2 Gene

ENSEMBL:
Gene Tree for ST8SIA2 (if available)
TreeFam:
Gene Tree for ST8SIA2 (if available)

Paralogs for ST8SIA2 Gene

Paralogs for ST8SIA2 Gene

(7) SIMAP similar genes for ST8SIA2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ST8SIA2: view

Variants for ST8SIA2 Gene

Sequence variations from dbSNP and Humsavar for ST8SIA2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000012850 -- 92,465,905(+) TAGTC(A/C/G)TATTC utr-variant-3-prime, utr-variant-5-prime
rs1000057978 -- 92,394,901(+) CGCCC(A/G)GTGGG intron-variant
rs1000088585 -- 92,394,630(+) CCTGG(A/G)GCCGG intron-variant
rs1000144998 -- 92,459,835(+) GATCC(A/G)CCCGC intron-variant
rs1000185632 -- 92,411,658(+) CACCC(C/G)TCTTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ST8SIA2 Gene

Variant ID Type Subtype PubMed ID
esv3581824 CNV loss 25503493
esv3637262 CNV loss 21293372
nsv1037972 CNV loss 25217958
nsv1049561 CNV loss 25217958

Variation tolerance for ST8SIA2 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ST8SIA2 Gene

Human Gene Mutation Database (HGMD)
ST8SIA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST8SIA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST8SIA2 Gene

Disorders for ST8SIA2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ST8SIA2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
eumycotic mycetoma
  • eumycetoma
spastic ataxia, charlevoix-saguenay type
  • charlevoix-saguenay spastic ataxia
acute diarrhea
osteogenesis imperfecta, type xv
  • osteogenesis imperfecta type 15
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ST8SIA2

Genetic Association Database (GAD)
ST8SIA2
Human Genome Epidemiology (HuGE) Navigator
ST8SIA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ST8SIA2
genes like me logo Genes that share disorders with ST8SIA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ST8SIA2 Gene

Publications for ST8SIA2 Gene

  1. Positive association between SIAT8B and schizophrenia in the Chinese Han population. (PMID: 17126533) Tao R. … He L. (Schizophr. Res. 2007) 3 22 46 64
  2. Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia. (PMID: 16229822) Arai M. … Itokawa M. (Biol. Psychiatry 2006) 3 22 46 64
  3. Human STX polysialyltransferase forms the embryonic form of the neural cell adhesion molecule. Tissue-specific expression, neurite outgrowth, and chromosomal localization in comparison with another polysialyltransferase, PST. (PMID: 9054414) Angata K. … Fukuda M. (J. Biol. Chem. 1997) 3 4 22 64
  4. A human STX cDNA confers polysialic acid expression in mammalian cells. (PMID: 7559389) Scheidegger E.P. … Lowe J.B. (J. Biol. Chem. 1995) 2 3 4 64
  5. A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R. … Hallmayer J. (Hum. Mol. Genet. 2010) 3 46 64

Products for ST8SIA2 Gene

Sources for ST8SIA2 Gene

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