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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
  • SIAT8B 2 3 4
  • Sialyltransferase St8Sia II 3 4
  • Sialyltransferase 8B 3 4
  • Sialyltransferase X 3 4
  • ST8SiaII 3 4
  • SIAT8-B 3 4
  • STX 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
  • Alpha-2,8-Sialyltransferase 8B 3
  • EC 2.4.99.- 4
  • ST8SIA-II 3
  • EC 2.4.99 56
  • 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 Osteogenesis Imperfecta, Type Xv and Eumycotic Mycetoma. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. 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 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ST8SIA2 Gene

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
GH15I092393 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.4 398 1.8 CTCF MXI1 KLF1 ZNF777 KLF17 SIN3A ZIC2 ZNF335 ZFHX2 GLIS2 ST8SIA2 GC15P092418
GH15I092664 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.8 +272.6 272586 4.3 HDGF FOXA2 KLF17 SIN3A FEZF1 RAD21 RARA YY1 SCRT2 ATF7 FAM174B ST8SIA2 LOC105370975 PIR42313 GC15M096533
GH15I092429 Enhancer 0.7 ENCODE 11.5 +36.0 36007 1.3 HDAC1 PKNOX1 BACH1 FOSL1 ZNF316 TRIM24 RCOR1 FOSL2 NFE2 FOS ST8SIA2 ENO1P2 GC15P092447
GH15I092095 Enhancer 0.7 FANTOM5 ENCODE 10.7 -297.8 -297843 1.2 MITF RAD51 RUNX3 ST8SIA2 SLCO3A1 GC15P092170
GH15I092365 Enhancer 0.6 ENCODE 12 -28.6 -28622 0.2 OSR2 GATA3 CBX8 KLF17 FOSL2 FOS WT1 ZBTB17 ST8SIA2 ENSG00000260661
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ST8SIA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ST8SIA2 gene promoter:

Genomic Locations for ST8SIA2 Gene

Genomic Locations for ST8SIA2 Gene
chr15:92,393,828-92,468,728
(GRCh38/hg38)
Size:
74,901 bases
Orientation:
Plus strand
chr15:92,937,058-93,011,958
(GRCh37/hg19)

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 posLast=6060, posLast=7272, isoforms=89, posLast=134134, posLast=219219, and isoforms=234

Other Protein References for ST8SIA2 Gene

Antibody Products

  • R&D Systems Antibodies for ST8SIA2 ("ST8 alpha-2,8-Sialyltransferase 8B/ST8SIA2")
  • Abcam antibodies for ST8SIA2

Domains & Families for ST8SIA2 Gene

Gene Families for ST8SIA2 Gene

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

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

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 IEA,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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (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

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 33 34
  • 99.2 (n)
oppossum
(Monodelphis domestica)
Mammalia ST8SIA2 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ST8SIA2 33 34
  • 92.62 (n)
dog
(Canis familiaris)
Mammalia ST8SIA2 33 34
  • 92.47 (n)
mouse
(Mus musculus)
Mammalia St8sia2 33 16 34
  • 92.18 (n)
rat
(Rattus norvegicus)
Mammalia St8sia2 33
  • 91.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ST8SIA2 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST8SIA2 33 34
  • 84.44 (n)
lizard
(Anolis carolinensis)
Reptilia ST8SIA2 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st8sia2 33
  • 73.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397702 33
zebrafish
(Danio rerio)
Actinopterygii st8sia2 33 34
  • 62.99 (n)
siat8 33
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 Variation AA Info Type
rs1000012850 -- 92,465,905(+) G/A/C 3_prime_UTR_variant
rs1000057978 -- 92,394,901(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000088585 -- 92,394,630(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000144998 -- 92,459,835(+) G/A intron_variant
rs1000185632 -- 92,411,658(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

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

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: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ST8SIA2

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 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 44 58
  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 44 58
  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 58
  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 58
  5. A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R … Hallmayer J (Human molecular genetics 2010) 3 44 58

Products for ST8SIA2 Gene

Sources for ST8SIA2 Gene

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