ST8SIA5

protein-coding

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5, the group of Sialyltransferases

Gene summary

The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]

Previous symbols:

SIAT8E

MANE transcript

NM_013305.6

Inheritance

—

ClinVar variants

U:54B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr18:46,667,821-46,759,257

External References & Databases

Ensembl (ENSG00000101638)

Transcript & Mutation Effects

hg38 • Region Span ~91.4 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 ST8SIA5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_013305.6. 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					2 clinvar	2
missense			50 clinvar		1 clinvar	51
nonsense			2 clinvar			2
start loss			1 clinvar			1
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	0	3	57

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_013305.6	RefSeq	NP_037437.2	7	MANE Select
ENST00000315087.12	Ensembl	ENSP00000321343.6	7	MANE Select
NM_001307986.2	RefSeq	NP_001294915.1	8	Standard
NM_001307987.2	RefSeq	NP_001294916.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycosphingolipid biosynthesis - ganglio series - Homo sapiens (human)
Ganglio Sphingolipid Metabolism
Post-translational protein modification
Metabolism of proteins
Sialic acid metabolism

Biological Process

carbohydrate metabolic process
protein glycosylation
glycosphingolipid biosynthetic process
sialylation

Molecular Function

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

Cellular Component

Golgi membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000315087
Coding exons: 7
Length: 80140
Individuals with no LoFs: 125695
Homozygous LoFs: 0
Heterozygous LoFs: 53
Defined: 125748
p: 0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.896	205	244	0.839	0.0000157	2473
Missense (PolyPhen)		82	97.958	0.8371		931
Synonymous	0.690	98	107	0.915	0.00000772	719
Loss of Function	2.00	8	16.9	0.474	7.19e-7	204

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0.0018	0.0018	notable
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00026	0.00026	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively. {ECO:0000269|PubMed:9199191}.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.470
RVIS EVS: -0.2
RVIS percentile EVS: 38.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.369

Gene Damage Prediction

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