SMCO4

Chr 11

single-pass membrane protein with coiled-coil domains 4

Also known as: C11orf75, FN5

NCBI Gene: 56935 ENSG00000166002 UniProt: Q9NRQ5

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

GOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SMCO4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 750

74 rare PASS variants

Rare truncating (LoF)

1 in 13,000

11 rare PASS variants

Rare synonymous (reference)

1 in 1,200

38 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SMCO4. 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 1,500	1 in 14,000
South Asian	~43k	1 in 820	≈ 1 in 8,600
Remaining (unassigned)	~30k	1 in 350	none seen
European (Finnish)	~27k	1 in 1,900	≈ 1 in 27,000
Admixed American	~22k	1 in 1,000	≈ 1 in 22,000
African / African American	~21k	1 in 910	≈ 1 in 21,000
East Asian	~20k	1 in 670	none seen
Ashkenazi Jewish	~13k	≈ 1 in 3,300	none seen
Middle Eastern	~2,884	≈ 1 in 1,400	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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓