SRP72

Chr 4AD

signal recognition particle 72

Also known as: BMFF, BMFS1, HEL103

NCBI Gene: 6731ENSG00000174780UniProt: O76094OMIM: 602122

This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bone marrow failure syndrome 1MIM #614675
AD

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.49
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — SRP72
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.002
Z-score 4.13
OE 0.31 (0.20–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.02Z-score
OE missense 0.85 (0.77–0.93)
294 obs / 347.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.20–0.49)
0≤0.351.4
Missense OE?0.85 (0.77–0.93)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 13 / 41.8Missense obs/exp: 294 / 347.4Syn Z: 0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SRP72 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients