SLC43A3

Chr 11

solute carrier family 43 member 3

Also known as: EEG1, ENBT1, FOAP-13, PRO1659, SEEEG-1

NCBI Gene: 29015 ENSG00000134802 UniProt: Q8NBI5

Enables adenine transmembrane transporter activity; guanine transmembrane transporter activity; and xenobiotic transmembrane transporter activity. Involved in hypoxanthine transport. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.86

LOEUF

Multiple*

Mechanism· predicted

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?

0.86LOEUF

pLI 0.000

Z-score 2.10

OE 0.54 (0.35–0.86)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.47Z-score

OE missense 0.92 (0.83–1.02)

260 obs / 282.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.54 (0.35–0.86)

0≤0.351.4

Missense OE?0.92 (0.83–1.02)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 13 / 24.1Missense obs/exp: 260 / 282.5Syn Z: 0.83

Background carrier burden — how many people carry a rare variant somewhere in SLC43A3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 87

580 rare PASS variants

Rare truncating (LoF)

1 in 2,000

93 rare PASS variants

Rare synonymous (reference)

1 in 180

256 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC43A3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 160	1 in 3,000
South Asian	~43k	1 in 71	1 in 440
Remaining (unassigned)	~30k	1 in 69	1 in 2,000
European (Finnish)	~27k	1 in 190	1 in 1,700
Admixed American	~22k	1 in 73	1 in 2,000
African / African American	~21k	1 in 99	1 in 580
East Asian	~20k	1 in 81	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 520	none seen
Middle Eastern	~2,884	1 in 90	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓