SHLD2

Chr 10

shieldin complex subunit 2

Also known as: FAM35A, FAM35A1, RINN2, bA163M19.1

NCBI Gene: 54537ENSG00000122376UniProt: Q86V20OMIM: 618029

Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in nucleoplasm and site of double-strand break. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.31
OE 0.49 (0.32–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.38Z-score
OE missense 0.94 (0.86–1.03)
350 obs / 370.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.32–0.80)
0≤0.351.4
Missense OE?0.94 (0.86–1.03)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 12 / 24.3Missense obs/exp: 350 / 370.7Syn Z: -0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SHLD2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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