SLC13A5

Chr 17

solute carrier family 13 member 5

Also known as: DEE25, EIEE25, INDY, NACT, mIndy

NCBI Gene: 284111ENSG00000141485UniProt: Q86YT5

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 25, with amelogenesis imperfecta

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
25
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.001
Z-score 2.83
OE 0.39 (0.24–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.14Z-score
OE missense 0.83 (0.75–0.91)
288 obs / 347.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.24–0.67)
0≤0.351.4
Missense OE?0.83 (0.75–0.91)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 10 / 25.4Missense obs/exp: 288 / 347.9Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC13A5 · protein map & ClinVar variants

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

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