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

ENSG00000177511

∙ NCBI:51046 ∙ OMIM:609478 ∙ HGNC:14269 ∙ Uniprot:O43173 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

not_specified (34 variants)

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. These statistics are base on transcript: NM_000015879.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ST8SIA3	protein_coding	protein_coding	ENST00000324000	4	20919

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.859	0.141	125738	0	8	125746	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	150	210	0.714	0.0000105	2504
Missense in Polyphen		35	69.738	0.50188		835
Synonymous	0.173	79	81.0	0.976	0.00000411	724
Loss of Function	3.14	2	15.2	0.132	7.00e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.000163	0.0000653
Other	0.000164	0.000163

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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