Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

SLC35D2-HSD17B3

Chr 9

SLC35D2-HSD17B3 readthrough

NCBI Gene: 127748585

This locus represents a naturally occurring readthrough transcript between the SLC35D2 and HSD17B3 genes that is subject to nonsense-mediated decay and unlikely to produce a functional protein product. No disease associations have been established for this readthrough transcript, as pathogenic variants would be expected to affect the individual SLC35D2 or HSD17B3 genes rather than the readthrough product itself.

ResearchSummary from RefSeq
Clinical Summary— SLC35D2-HSD17B3
📋
ClinVar Variants
82 unique Pathogenic / Likely Pathogenic· 112 VUS of 430 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC35D2-HSD17B3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

430 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic49
Likely Pathogenic33
VUS112
Likely Benign168
Benign40
Conflicting12
49
Pathogenic
33
Likely Pathogenic
112
VUS
168
Likely Benign
40
Benign
12
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
21
9
19
0
49
Likely Pathogenic
12
20
1
0
33
VUS
4
98
8
2
112
Likely Benign
0
6
95
67
168
Benign
0
1
38
1
40
Conflicting
—12
Total3713416170414

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC35D2-HSD17B3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients