AP3M2

Chr 8

adaptor related protein complex 3 subunit mu 2

Also known as: AP47B, CLA20, P47B

NCBI Gene: 10947 ENSG00000070718 UniProt: P53677 OMIM: 610469

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.11

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.11LOEUF

pLI 0.000

Z-score 1.20

OE 0.70 (0.45–1.11)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.39Z-score

OE missense 0.75 (0.66–0.85)

181 obs / 241.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.45–1.11)

0≤0.351.4

Missense OE?0.75 (0.66–0.85)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 13 / 18.6Missense obs/exp: 181 / 241.8Syn Z: -0.36

Background carrier burden — how many people carry a rare variant somewhere in AP3M2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

468 rare PASS variants

Rare truncating (LoF)

1 in 2,300

79 rare PASS variants

Rare synonymous (reference)

1 in 240

210 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AP3M2. 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 110	1 in 2,300
South Asian	~43k	1 in 140	1 in 2,500
Remaining (unassigned)	~30k	1 in 110	1 in 3,400
European (Finnish)	~27k	1 in 330	≈ 1 in 27,000
Admixed American	~22k	1 in 130	1 in 1,100
African / African American	~21k	1 in 200	1 in 3,300
East Asian	~20k	1 in 180	1 in 2,200
Ashkenazi Jewish	~13k	1 in 320	1 in 620
Middle Eastern	~2,884	1 in 360	≈ 1 in 1,400

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.