SRPRB

Chr 3

SRP receptor subunit beta

Also known as: APMCF1, SR-beta

NCBI Gene: 58477 ENSG00000144867 UniProt: Q9Y5M8 OMIM: 616883

The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.83LOEUF

pLI 0.006

Z-score 2.04

OE 0.42 (0.23–0.83)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.01Z-score

OE missense 1.00 (0.87–1.15)

146 obs / 145.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.42 (0.23–0.83)

0≤0.351.4

Missense OE?1.00 (0.87–1.15)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 6 / 14.3Missense obs/exp: 146 / 145.8Syn Z: -0.01

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

341 rare PASS variants

Rare truncating (LoF)

1 in 2,700

59 rare PASS variants

Rare synonymous (reference)

1 in 560

153 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SRPRB. 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 260	1 in 2,300
South Asian	~43k	1 in 200	1 in 1,700
Remaining (unassigned)	~30k	1 in 160	1 in 2,300
European (Finnish)	~27k	1 in 2,100	none seen
Admixed American	~22k	1 in 180	1 in 3,700
African / African American	~21k	1 in 160	1 in 2,400
East Asian	~20k	1 in 270	1 in 2,800
Ashkenazi Jewish	~13k	1 in 770	none seen
Middle Eastern	~2,884	1 in 140	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 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓