SRP54

Chr 14

signal recognition particle 54

Also known as: SCN8

NCBI Gene: 6729 ENSG00000100883 UniProt: P61011

Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytoplasm and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviews Research

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeutropenia, severe congenital 8, autosomal dominant

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

📖

GeneReview available — SRP54

Authoritative clinical overview · Recommended first read

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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 SRP54?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 510

351 rare PASS variants

Rare truncating (LoF)

1 in 14,000

30 rare PASS variants

Rare synonymous (reference)

1 in 280

207 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SRP54. 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 540	1 in 12,000
South Asian	~43k	1 in 390	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 660	≈ 1 in 7,300
European (Finnish)	~27k	1 in 580	none seen
Admixed American	~22k	1 in 430	≈ 1 in 21,000
African / African American	~21k	1 in 330	≈ 1 in 16,000
East Asian	~20k	1 in 260	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 1,600	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 580	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): 11 of 15 coding exons well covered in gnomAD exomes; exons 2, 4, 5, 8 marginal. Genomes: all 15.? see exons ↓