Human Gene ST8SIA2 (ENST00000268164.8) from GENCODE V44
  Description: Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), transcript variant 1, mRNA. (from RefSeq NM_006011)
RefSeq Summary (NM_006011): 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].
Gencode Transcript: ENST00000268164.8
Gencode Gene: ENSG00000140557.12
Transcript (Including UTRs)
   Position: hg38 chr15:92,393,881-92,468,728 Size: 74,848 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr15:92,394,065-92,464,385 Size: 70,321 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:92,393,881-92,468,728)mRNA (may differ from genome)Protein (375 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SIA8B_HUMAN
DESCRIPTION: RecName: Full=Alpha-2,8-sialyltransferase 8B; EC=2.4.99.-; AltName: Full=Sialyltransferase 8B; Short=SIAT8-B; AltName: Full=Sialyltransferase X; Short=STX; AltName: Full=Sialytransferase St8Sia II; Short=ST8SiaII;
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.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Potential).
TISSUE SPECIFICITY: Highly expressed in fetal brain, kidney and heart and to a much lesser extent in adult heart and thymus.
SIMILARITY: Belongs to the glycosyltransferase 29 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST8SIA2";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=ST8Sia II; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_637";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ST8SIA2
Diseases sorted by gene-association score: osteogenesis imperfecta, type xv (9), eumycotic mycetoma (6), spastic ataxia, charlevoix-saguenay type (6), acute diarrhea (5), schizophrenia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.66 RPKM in Brain - Hypothalamus
Total median expression: 4.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.50184-0.519 Picture PostScript Text
3' UTR -1311.904343-0.302 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001675 - Glyco_trans_29
IPR012163 - Sialyl_trans

Pfam Domains:
PF00777 - Glycosyltransferase family 29 (sialyltransferase)

ModBase Predicted Comparative 3D Structure on Q92186
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein Sequence Protein Sequence   
Alignment Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity
GO:0008373 sialyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0033691 sialic acid binding

Biological Process:
GO:0001574 ganglioside biosynthetic process
GO:0005975 carbohydrate metabolic process
GO:0006464 cellular protein modification process
GO:0006486 protein glycosylation
GO:0006491 N-glycan processing
GO:0007399 nervous system development
GO:0009311 oligosaccharide metabolic process
GO:0097503 sialylation

Cellular Component:
GO:0000139 Golgi membrane
GO:0005769 early endosome
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  LP895987 - Sequence 851 from Patent EP3253886.
AK313924 - Homo sapiens cDNA, FLJ94563, Homo sapiens sialyltransferase 8B (alpha-2, 8-sialyltransferase)(SIAT8B), mRNA.
BC069584 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2, mRNA (cDNA clone IMAGE:7262384), partial cds.
BC096202 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2, mRNA (cDNA clone MGC:116854 IMAGE:40004644), complete cds.
BC096203 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2, mRNA (cDNA clone MGC:116855 IMAGE:40004645), complete cds.
BC096204 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2, mRNA (cDNA clone MGC:116856 IMAGE:40004646), complete cds.
BC096205 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2, mRNA (cDNA clone MGC:116857 IMAGE:40004648), complete cds.
U82762 - Human sialyltransferase X (STX) mRNA, complete cds.
KJ897809 - Synthetic construct Homo sapiens clone ccsbBroadEn_07203 ST8SIA2 gene, encodes complete protein.
U33551 - Human sialyltransferase (STX) mRNA, complete cds.
JD478293 - Sequence 459317 from Patent EP1572962.
L29556 - Human (clone hSTX) sialyltransferase mRNA, 3' end.
AY358091 - Homo sapiens clone DNA125166 VFLL3057 (UNQ3057) mRNA, complete cds.
BX537981 - Homo sapiens mRNA; cDNA DKFZp686E18101 (from clone DKFZp686E18101).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00604 - Glycosphingolipid biosynthesis - ganglio series

BioCyc Knowledge Library
PWY-7434 - terminal O-glycans residues modification (via type 2 precursor disaccharide)
PWY-7831 - ABH and Lewis epitopes biosynthesis from type 2 precursor disaccharide
PWY-7835 - superpathway of glycosphingolipids biosynthesis
PWY-7841 - neolacto-series glycosphingolipids biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q92186 (Reactome details) participates in the following event(s):

R-HSA-422454 Polysialylation of NCAM1
R-HSA-1022133 ST8SIA2,3,6 transfer Neu5Ac to terminal Gal of N-glycans
R-HSA-4084978 ST8SIA1-6 transfer Neu5Ac to terminal Neu5Ac residues
R-HSA-419037 NCAM1 interactions
R-HSA-975577 N-Glycan antennae elongation
R-HSA-4085001 Sialic acid metabolism
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-975576 N-glycan antennae elongation in the medial/trans-Golgi
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-422475 Axon guidance
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-1266738 Developmental Biology
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000268164.1, ENST00000268164.2, ENST00000268164.3, ENST00000268164.4, ENST00000268164.5, ENST00000268164.6, ENST00000268164.7, NM_006011, Q4VAZ0, Q92186, Q92470, Q92746, SIA8B_HUMAN, SIAT8B, STX, uc002bra.1, uc002bra.2, uc002bra.3, uc002bra.4, uc002bra.5
UCSC ID: ENST00000268164.8
RefSeq Accession: NM_006011
Protein: Q92186 (aka SIA8B_HUMAN or SI8B_HUMAN)
CCDS: CCDS10372.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.