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... See more...

Aliases for ST8SIA2 Gene

Aliases for ST8SIA2 Gene

  • ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2 2 3 5
  • SIAT8B 2 3 4
  • STX 2 3 4
  • Alpha-2,8-Sialyltransferase 8B 3 4
  • Sialyltransferase St8Sia II 3 4
  • Sialyltransferase 8B 3 4
  • Sialyltransferase X 3 4
  • ST8SIA-II 2 3
  • HsT19690 2 3
  • ST8SiaII 3 4
  • SIAT8-B 3 4
  • ST8 Alpha-N-Acetylneuraminate Alpha-2,8-Sialyltransferase 2 3
  • Sialyltransferase 8 (Alpha-2, 8-Sialytransferase) B 3
  • Alpha-2,8-Sialyltransferase 8B 1 3
  • EC 2.4.99.- 4
  • EC 2.4.99 50
  • ST8SIA2 5

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 Amelogenesis Imperfecta, Type Iiia and Developmental And Epileptic Encephalopathy 15. Among its related pathways are RET signaling and Developmental Biology. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for ST8SIA2 Gene

Genomics for ST8SIA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ST8SIA2 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
GH15J092393 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 420 2.6 ZNF600 ZNF10 POLR2A ZIC2 ZNF341 SIN3A ZNF513 KLF16 TAF1 GATA2 HSALNG0108232 ST8SIA2 ENSG00000239197 FAM174B
GH15J092664 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +272.5 272533 4.3 ZNF600 FOXA1 TRIM22 FEZF1 ZNF341 ZNF217 FOXA2 SMAD4 RXRA SAP130 FAM174B ST8SIA2 lnc-RGMA-14 piR-61667-006
GH15J092095 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.7 -297.3 -297280 5.6 ZNF654 REST TRIM22 CTCF SIN3A RAD51 SMC3 YY1 RAD21 PKNOX1 ST8SIA2 SLCO3A1 HSALNG0108216 RF00017-1696
GH15J092429 Enhancer 0.9 Ensembl ENCODE 11.5 +36.0 36008 1.4 IKZF1 EP300 MAFF ZNF316 NFE2 MAFK SMARCA4 EHMT2 NFE2L2 MAFG ST8SIA2 ENO1P2 lnc-SLCO3A1-2 FAM174B
GH15J092365 Enhancer 0.7 Ensembl ENCODE 12 -28.5 -28489 2.4 ZNF341 FOSL2 JUND TRIM28 OSR2 CBX8 FOS ZBTB17 KLF17 WT1 HSALNG0108231 ST8SIA2 ENSG00000239197 HSALNG0108230 SLCO3A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST8SIA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST8SIA2

Top Transcription factor binding sites by QIAGEN in the ST8SIA2 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • ARP-1
  • Brachyury
  • Pax-5
  • TGIF

Genomic Locations for ST8SIA2 Gene

Latest Assembly
chr15:92,393,881-92,468,728
(GRCh38/hg38)
Size:
74,848 bases
Orientation:
Plus strand

Previous Assembly
chr15:92,937,111-93,011,958
(GRCh37/hg19 by Entrez Gene)
Size:
74,848 bases
Orientation:
Plus strand

chr15:92,937,058-93,011,958
(GRCh37/hg19 by Ensembl)
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, Asn89, Asn134, Asn219, and Asn234
  • Modification sites at PhosphoSitePlus

Other Protein References for ST8SIA2 Gene

Domains & Families for ST8SIA2 Gene

Gene Families for ST8SIA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ST8SIA2 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 29

Suggested Antigen Peptide Sequences for ST8SIA2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94563, Homo sapiens sialyltransferase 8B (alpha-2, 8-sialyltransferase)(SIAT8B), mRNA (B2R9U8_HUMAN)
  • ST8SIA2 protein (Q4VAY9_HUMAN)
  • ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (Q4VAZ2_HUMAN)
  • Sialytransferase St8Sia II (SIA8B_HUMAN)

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

Phenotypes From GWAS Catalog 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 IDA 10766765
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:

miRNA for ST8SIA2 Gene

miRTarBase miRNAs that target ST8SIA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST8SIA2

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
endoplasmic reticulum 3
endosome 3
plasma membrane 2
nucleus 2
cytosol 2
lysosome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

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

mRNA/cDNA for ST8SIA2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST8SIA2

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

Expression for ST8SIA2 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.9)
  • Intestine(2.7)
  • Heart(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with ST8SIA2: view

Primer products for research

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 29 30
  • 99.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ST8SIA2 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ST8SIA2 29 30
  • 92.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ST8SIA2 29 30
  • 92.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia St8sia2 29 16 30
  • 92.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia St8sia2 29
  • 91.2 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ST8SIA2 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ST8SIA2 29 30
  • 84.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ST8SIA2 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia st8sia2 29
  • 73.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397702 29
Zebrafish
(Danio rerio)
Actinopterygii st8sia2 29 30
  • 62.99 (n)
OneToOne
siat8 29
Species where no ortholog for ST8SIA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ST8SIA2: view image
Alliance of Genome Resources:
Additional Orthologs for ST8SIA2

Paralogs for ST8SIA2 Gene

Paralogs for ST8SIA2 Gene

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

  • SIA8B_HUMAN
  • B2R9U8_HUMAN
  • C6G488_HUMAN
  • G3V2T1_HUMAN
  • Q4VAY9_HUMAN
  • Q4VAZ2_HUMAN
genes like me logo Genes that share paralogs with ST8SIA2: view

Variants for ST8SIA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST8SIA2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1375015257 Likely Benign: not provided 92,464,096(+) C/A
NM_006011.4(ST8SIA2):c.843-4C>A
INTRON
rs148242825 Benign: not provided 92,464,286(+) C/T
NM_006011.4(ST8SIA2):c.1029C>T (p.Ala343=)
SYNONYMOUS
rs377119605 Likely Benign: not provided 92,464,292(+) G/A
NM_006011.4(ST8SIA2):c.1035G>A (p.Pro345=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ST8SIA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ST8SIA2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ST8SIA2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ST8SIA2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iiia
  • ai3a
developmental and epileptic encephalopathy 15
  • dee15
acute diarrhea
dysentery
  • infectious diarrhea
visual cortex disease
  • visual cortex dysfunction
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ST8SIA2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Schizophrenia research 2007) 3 22 40
  2. Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia. (PMID: 16229822) Arai M … Itokawa M (Biological psychiatry 2006) 3 22 40
  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 (The Journal of biological chemistry 1997) 3 4 22
  4. A human STX cDNA confers polysialic acid expression in mammalian cells. (PMID: 7559389) Scheidegger EP … Lowe JB (The Journal of biological chemistry 1995) 2 3 4
  5. A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R … Hallmayer J (Human molecular genetics 2010) 3 40

Products for ST8SIA2 Gene

Sources for ST8SIA2 Gene