EMC4

Chr 15

ER membrane protein complex subunit 4

Also known as: PIG17, TMEM85

NCBI Gene: 51234 ENSG00000128463 UniProt: Q5J8M3 OMIM: 616245

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in EMC4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 440

258 rare PASS variants

Rare truncating (LoF)

1 in 2,000

55 rare PASS variants

Rare synonymous (reference)

1 in 390

75 rare PASS variants

Rare missense and truncating variants are carried at similar rates in EMC4; 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 440	1 in 2,000
South Asian	~43k	1 in 400	1 in 930
Remaining (unassigned)	~30k	1 in 550	1 in 3,300
European (Finnish)	~27k	1 in 1,600	≈ 1 in 8,200
Admixed American	~22k	1 in 250	≈ 1 in 6,800
African / African American	~21k	1 in 290	1 in 2,700
East Asian	~20k	1 in 420	1 in 1,100
Ashkenazi Jewish	~13k	1 in 810	1 in 530
Middle Eastern	~2,884	1 in 360	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.