SLC35E2A

Chr 1

solute carrier family 35 member E2A (pseudogene)

Also known as: SLC35E2, SLC35E2AP, SLC35E2P

NCBI Gene: 9906ENSG00000215790UniProt: P0CK97

Predicted to enable antiporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.66
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.001
Z-score 0.38
OE 0.83 (0.43–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.18Z-score
OE missense 0.95 (0.82–1.11)
118 obs / 123.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.43–1.66)
0≤0.351.4
Missense OE?0.95 (0.82–1.11)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 5 / 6.0Missense obs/exp: 118 / 123.7Syn Z: -0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC35E2A · protein map & ClinVar variants

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

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