TMED3

Chr 15

transmembrane p24 trafficking protein 3

Also known as: C15orf22, P24B, p24g4, p24gamma4, p26

NCBI Gene: 23423 ENSG00000166557 UniProt: Q9Y3Q3 OMIM: 620437

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.98

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.98LOEUF

pLI 0.023

Z-score 1.61

OE 0.43 (0.21–0.98)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.30Z-score

OE missense 0.93 (0.80–1.08)

120 obs / 129.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.43 (0.21–0.98)

0≤0.351.4

Missense OE?0.93 (0.80–1.08)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 4 / 9.3Missense obs/exp: 120 / 129.7Syn Z: -0.04

Background carrier burden — how many people carry a rare variant somewhere in TMED3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 250

339 rare PASS variants

Rare truncating (LoF)

1 in 650

38 rare PASS variants

Rare synonymous (reference)

1 in 200

158 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TMED3; this gene does not show strong loss-of-function constraint by this measure. 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 270	1 in 610
South Asian	~43k	1 in 150	1 in 350
Remaining (unassigned)	~30k	1 in 140	1 in 970
European (Finnish)	~27k	1 in 1,100	1 in 710
Admixed American	~22k	1 in 180	1 in 180
African / African American	~21k	1 in 77	1 in 570
East Asian	~20k	1 in 130	1 in 3,900
Ashkenazi Jewish	~13k	1 in 820	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 90	≈ 1 in 850

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 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓