Gene Gene information from NCBI Gene database.
Entrez ID 8128
Gene name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
Gene symbol ST8SIA2
Synonyms (NCBI Gene)
HsT19690SIAT8-BSIAT8BST8SIA-IIST8SiaIISTX
Chromosome 15
Chromosome location 15q26.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
97
miRTarBase ID miRNA Experiments Reference
MIRT029111 hsa-miR-26b-5p Microarray 19088304
MIRT1393961 hsa-miR-1207-5p CLIP-seq
MIRT1393962 hsa-miR-1299 CLIP-seq
MIRT1393963 hsa-miR-149 CLIP-seq
MIRT1393964 hsa-miR-1908 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0001574 Process Ganglioside biosynthetic process IDA 10766765
GO:0003828 Function Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602546 10870 ENSG00000140557
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92186
Protein name Alpha-2,8-sialyltransferase 8B (EC 2.4.3.-) (Sialyltransferase 8B) (SIAT8-B) (Sialyltransferase St8Sia II) (ST8SiaII) (Sialyltransferase X) (STX)
Protein function Catalyzes the transfer of a sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an N-linked glycan acceptor through alpha-2,8-linkages (Probable) (PubMed:10766765, PubMed:117
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00777 Glyco_transf_29 109 368 Glycosyltransferase family 29 (sialyltransferase) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal brain, kidney and heart and to a much lesser extent in adult heart and thymus. {ECO:0000269|PubMed:9054414}.
Sequence
Sequence length 375
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sialic acid metabolism
NCAM1 interactions
N-Glycan antennae elongation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 27565727
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis GWASCAT_DG 25085501
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 17113863
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 24357335, 27105834, 27565727
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 20663923
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 20663923, 22693595, 24651862 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 22693595, 24651862, 31608978
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder BEFREE 17126533, 24651862, 25129258, 26418860, 28538701
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 22693595, 24651862, 26418860 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 24651862, 25129258
★★☆☆☆
Found in Text Mining + Unknown/Other Associations