RAB43

Chr 3

RAB43, member RAS oncogene family

Also known as: RAB11B, RAB41

NCBI Gene: 339122 ENSG00000172780 UniProt: Q86YS6

Enables G protein activity. Involved in several processes, including endoplasmic reticulum to Golgi vesicle-mediated transport; regulation of Golgi organization; and retrograde transport, plasma membrane to Golgi. Located in Golgi membrane; endoplasmic reticulum-Golgi intermediate compartment membrane; and phagocytic vesicle. Is active in cis-Golgi network membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.71LOEUF

pLI 0.562

Z-score 2.04

OE 0.15 (0.05–0.71)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

1.37Z-score

OE missense 0.66 (0.55–0.79)

83 obs / 126.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.05–0.71)

0≤0.351.4

Missense OE?0.66 (0.55–0.79)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 1 / 6.7Missense obs/exp: 83 / 126.3Syn Z: 0.27

Background carrier burden — how many people carry a rare variant somewhere in RAB43?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 420

230 rare PASS variants

Rare truncating (LoF)

1 in 1,700

20 rare PASS variants

Rare synonymous (reference)

1 in 290

121 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RAB43; 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 520	1 in 3,900
South Asian	~43k	1 in 440	≈ 1 in 43,000
Remaining (unassigned)	~30k	1 in 380	≈ 1 in 15,000
European (Finnish)	~27k	1 in 780	1 in 5,300
Admixed American	~22k	1 in 360	≈ 1 in 22,000
African / African American	~21k	1 in 340	≈ 1 in 9,200
East Asian	~20k	1 in 300	none seen
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,884	1 in 420	none seen

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): 2 of 3 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 3.? see exons ↓