ST8SIA6

protein-coding

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6, the group of Sialyltransferases

Gene summary

This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Previous symbols:

SIAT8F

MANE transcript

NM_001004470.3

Inheritance

—

ClinVar variants

U:48B:1

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 1.01

Max pathogenic AF

—

Genomic locus

chr10:17,315,421-17,454,595

External References & Databases

Ensembl (ENSG00000148488)

Transcript & Mutation Effects

hg38 • Region Span ~139.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ST8SIA6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 46

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001004470.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			47 clinvar	1 clinvar		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	48	1	0	49

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001004470.3	RefSeq	NP_001004470.1	8	MANE Select
ENST00000377602.5	Ensembl	ENSP00000366827.4	8	MANE Select
NM_001345961.2	RefSeq	NP_001332890.1	4	Standard
ENST00000440449.5	Ensembl	ENSP00000388343.1	4	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
st8sia6	Danio rerio	Structure: olfactory bulb glomerulus Quality: aplastic/hypoplastic abnormal

Gene / Model

Organism

Observed Phenotype

st8sia6

Danio rerio

Structure: olfactory bulb glomerulus

Quality: aplastic/hypoplastic

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
N-Glycan antennae elongation
N-glycan antennae elongation in the medial/trans-Golgi
Metabolism of proteins
Sialic acid metabolism

Biological Process

ganglioside biosynthetic process
blastocyst hatching
protein O-linked glycosylation
glycoprotein metabolic process
glycolipid biosynthetic process

Molecular Function

alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity
sialyltransferase activity

Cellular Component

Golgi membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377602
Coding exons: 8
Length: 135948
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 28
Defined: 125747
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.431	199	183	1.09	0.00000927	2589
Missense (PolyPhen)		70	66.272	1.0563		842
Synonymous	-1.15	86	73.5	1.17	0.00000429	771
Loss of Function	-0.0297	14	13.9	1.01	5.86e-7	208

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000088	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000072	0.000070	rare
South Asian	0.00034	0.00033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc- alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.859
RVIS EVS: 0.2
RVIS percentile EVS: 67.19

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.317

Gene Damage Prediction

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