SRP14

Chr 15

signal recognition particle 14

Also known as: ALURBP

NCBI Gene: 6727 ENSG00000140319 UniProt: P37108

Enables RNA binding activity. Involved in protein targeting to ER. Located in nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews Research

GeneReviews 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

LOF

Mechanism· predicted

📖

GeneReview available — SRP14

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 SRP14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 280

185 rare PASS variants

Rare truncating (LoF)

1 in 550

22 rare PASS variants

Rare synonymous (reference)

1 in 1,100

89 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SRP14; 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 460	1 in 1,200
South Asian	~43k	1 in 460	1 in 1,200
Remaining (unassigned)	~30k	1 in 250	≈ 1 in 30,000
European (Finnish)	~27k	1 in 1,800	none seen
Admixed American	~22k	1 in 600	1 in 530
African / African American	~21k	1 in 400	1 in 3,400
East Asian	~20k	1 in 230	≈ 1 in 20,000
Ashkenazi Jewish	~13k	≈ 1 in 4,300	none seen
Middle Eastern	~2,884	1 in 470	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.