STRBP

Chr 9

spermatid perinuclear RNA binding protein

Also known as: HEL162, ILF3L, SPNR, p74

NCBI Gene: 55342ENSG00000165209UniProt: Q96SI9OMIM: 611138

This protein binds to double-stranded DNA and RNA and regulates cell growth, with predicted roles in cell differentiation and motility. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.22), but no established human disease associations have been reported to date.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.22
Clinical Summary— STRBP
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.22LOEUF
pLI 1.000
Z-score 5.06
OE 0.08 (0.04–0.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.48Z-score
OE missense 0.49 (0.43–0.55)
176 obs / 362.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.08 (0.04–0.22)
0≤0.351.4
Missense OE0.49 (0.43–0.55)
0≤0.61.4
Synonymous OE0.85
0≤1.21.6
LoF obs/exp: 3 / 35.6Missense obs/exp: 176 / 362.2Syn Z: 1.33
DN
0.3196th %ile
GOF
0.2696th %ile
LOF
0.81top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.22

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STRBP · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Predicted gene 31453 (Gm31453) and the gene encoding carboxypeptidase A5 (Cpa5) are not essential for spermatogenesis and male fertility in the mouse.
Zhou Y et al.·Reprod Fertil Dev
2021Functional
Spermatid perinuclear RNA-binding protein promotes UBR5-mediated proteolysis of Dicer to accelerate triple-negative breast cancer progression.
Chen SY et al.·Cancer Lett
2024
Identification and Analysis of ZIC-Related Genes in Cerebellum of Autism Spectrum Disorders
Li H et al.·Neuropsychiatr Dis Treat
2024
Development and validation of a genomic nomogram based on a ceRNA network for comprehensive analysis of obstructive sleep apnea
Liu W et al.·Front Genet
2023
Satellite double-stranded RNA induces mesenchymal transition in pancreatic cancer by regulating alternative splicing
Iwata T et al.·J Biol Chem
2024
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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