Gene Gene information from NCBI Gene database.
Entrez ID 7903
Gene name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
Gene symbol ST8SIA4
Synonyms (NCBI Gene)
PSTPST1SIAT8-DSIAT8DST8SIA-IVST8SiaIV
Chromosome 5
Chromosome location 5q21.1
Summary The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a
miRNA miRNA information provided by mirtarbase database.
449
miRTarBase ID miRNA Experiments Reference
MIRT017872 hsa-miR-335-5p Microarray 18185580
MIRT540861 hsa-miR-8485 HITS-CLIP 21572407
MIRT540861 hsa-miR-8485 HITS-CLIP 23824327
MIRT540861 hsa-miR-8485 HITS-CLIP 23824327
MIRT540861 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001574 Process Ganglioside biosynthetic process IDA 10766765
GO:0003828 Function Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IBA
GO:0003828 Function Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IDA 9774483, 10766765
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602547 10871 ENSG00000113532
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92187
Protein name CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase (EC 2.4.3.-) (Alpha-2,8-sialyltransferase 8D) (Polysialyltransferase) (Polysialyltransferase-1) (Sialyltransferase 8D) (SIAT8-D) (Sialyltransferase St8Sia IV) (ST8SiaIV)
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 protein acceptor through alpha-2,8-linkages (PubMed:10766765, PubMed:112790
PDB 5Y22 , 5Y3U , 6AHZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00777 Glyco_transf_29 94 353 Glycosyltransferase family 29 (sialyltransferase) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus (PubMed:7624364). Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes (PubMed:76243
Sequence
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sialic acid metabolism
NCAM1 interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER 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
Acne Acne BEFREE 30577530
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 23335995, 8297373
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 22285486
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 25997986 Stimulate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 17113863
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26530860, 28032858
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 28032858, 34278507 Associate
★☆☆☆☆
Found in Text Mining only
Bulimia Nervosa Bulimia BEFREE 29455021
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30105850 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 27527856
★☆☆☆☆
Found in Text Mining only