ST8SIA3

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3, the group of Sialyltransferases

Basic information

Region (hg38): 18:57352557-57371731

Previous symbols: [ "SIAT8C" ]

Links

ENSG00000177511NCBI:51046OMIM:609478HGNC:14269Uniprot:O43173AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ST8SIA3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST8SIA3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
17
clinvar
17
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 17 0 0

Variants in ST8SIA3

This is a list of pathogenic ClinVar variants found in the ST8SIA3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
18-57352869-G-A not specified Uncertain significance (Apr 28, 2022)2286558
18-57352874-G-A not specified Uncertain significance (Nov 21, 2023)3170724
18-57352896-T-C not specified Uncertain significance (Oct 08, 2024)3450079
18-57352931-A-T not specified Uncertain significance (Jan 22, 2024)3170729
18-57352958-A-G not specified Uncertain significance (Nov 17, 2023)3170723
18-57352991-G-C not specified Uncertain significance (Nov 12, 2024)3450080
18-57353021-T-C not specified Uncertain significance (Jan 10, 2023)2475089
18-57354442-C-G not specified Uncertain significance (Feb 17, 2022)2277640
18-57354515-T-C not specified Uncertain significance (Jan 17, 2025)3802007
18-57356974-C-T not specified Uncertain significance (Apr 18, 2023)2510003
18-57356989-A-G not specified Uncertain significance (Dec 25, 2024)3802005
18-57357043-C-T not specified Uncertain significance (Oct 06, 2021)2360078
18-57357044-G-A not specified Uncertain significance (Sep 10, 2024)2373945
18-57357047-C-T not specified Uncertain significance (Dec 19, 2023)3170725
18-57357090-T-A not specified Uncertain significance (Dec 28, 2024)3802006
18-57357098-C-T not specified Uncertain significance (Dec 21, 2023)3170726
18-57357310-A-G not specified Uncertain significance (Jan 23, 2024)3170727
18-57357328-G-A not specified Uncertain significance (Jul 05, 2024)3450078
18-57357352-T-C not specified Uncertain significance (Dec 20, 2023)3170728
18-57357434-T-C not specified Uncertain significance (Mar 01, 2025)3802008
18-57360180-A-G not specified Uncertain significance (Mar 21, 2024)3322975

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ST8SIA3protein_codingprotein_codingENST00000324000 420919
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8590.141125738081257460.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.471502100.7140.00001052504
Missense in Polyphen3569.7380.50188835
Synonymous0.1737981.00.9760.00000411724
Loss of Function3.14215.20.1327.00e-7187

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003530.0000352
Middle Eastern0.000.00
South Asian0.0001630.0000653
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid. {ECO:0000269|PubMed:10766765, ECO:0000269|PubMed:26192331, ECO:0000269|PubMed:9826427}.;
Pathway
Ganglio Sphingolipid Metabolism;Post-translational protein modification;N-Glycan antennae elongation;N-glycan antennae elongation in the medial/trans-Golgi;Metabolism of proteins;Sialic acid metabolism;Synthesis of substrates in N-glycan biosythesis;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation (Consensus)

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.105
rvis_EVS
-0.29
rvis_percentile_EVS
32.94

Haploinsufficiency Scores

pHI
0.479
hipred
Y
hipred_score
0.837
ghis
0.573

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.476

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
St8sia3
Phenotype

Zebrafish Information Network

Gene name
st8sia3
Affected structure
motor neuron
Phenotype tag
abnormal
Phenotype quality
defasciculated

Gene ontology

Biological process
ganglioside biosynthetic process;protein glycosylation;N-glycan processing;glycosphingolipid biosynthetic process;glycoprotein metabolic process;oligosaccharide metabolic process;protein sialylation
Cellular component
Golgi membrane;integral component of membrane
Molecular function
alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;sialyltransferase activity;sialic acid binding;identical protein binding