SLC35E2B

Chr 1

solute carrier family 35 member E2B

Also known as: SLC35E2

NCBI Gene: 728661ENSG00000189339UniProt: P0CK96

This gene encodes a putative transporter protein predicted to function as an antiporter in the Golgi apparatus membrane, facilitating transmembrane transport processes. Mutations in SLC35E2B have not been definitively associated with human disease in current medical literature. The gene shows low constraint against loss-of-function variants (pLI = 0.003, LOEUF = 0.96), suggesting it may tolerate such variants without causing severe phenotypes.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
140
P/LP submissions
0%
P/LP missense
0.96
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— SLC35E2B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
133 unique Pathogenic / Likely Pathogenic· 85 VUS of 230 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.96LOEUF
pLI 0.003
Z-score 1.66
OE 0.49 (0.27–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.99Z-score
OE missense 0.80 (0.71–0.92)
162 obs / 201.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.49 (0.27–0.96)
0≤0.351.4
Missense OE0.80 (0.71–0.92)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 6 / 12.3Missense obs/exp: 162 / 201.7Syn Z: -0.96
DN
0.77top 25%
GOF
0.77top 25%
LOF
0.2190th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

230 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic125
Likely Pathogenic8
VUS85
Likely Benign10
125
Pathogenic
8
Likely Pathogenic
85
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
125
0
125
Likely Pathogenic
0
0
8
0
8
VUS
0
65
20
0
85
Likely Benign
0
6
1
3
10
Benign
0
0
0
0
0
Total0711543228

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC35E2B · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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