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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SHLD2
shieldin complex subunit 2
Chromosome 10 · 10q23.2
NCBI Gene: 54537Ensembl: ENSG00000122376.13HGNC: HGNC:28773UniProt: Q86V20
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of double-strand break repair via nonhomologous end joiningnucleussite of double-strand breakgouturolithiasisbladder calculushyperinsulinism-hyperammonemia syndrome
✦AI Summary

SHLD2 (shieldin complex subunit 2) is a critical component of the four-protein shieldin complex that regulates DNA double-strand break (DSB) repair pathway choice 1. The protein contains three C-terminal oligonucleotide-binding (OB) fold domains that directly bind single-stranded DNA, analogous to RPA1 and POT1 1. SHLD2 functions downstream of 53BP1 and RIF1 to promote non-homologous end joining (NHEJ) by suppressing DNA end resection and preventing homologous recombination 12. Within the shieldin complex, SHLD2 facilitates MAD2L2 (REV7) dimerization, which accelerates MAD2L2-SHLD3 interaction and is essential for proper complex assembly 3. The protein's DNA repair function is regulated by post-translational modifications, as USP25 deubiquitinates SHLD2 at lysine 64, enhancing its binding to REV7 and promoting NHEJ activity 4. SHLD2 mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination and telomere fusion 1. Loss of SHLD2 function causes PARP inhibitor resistance in BRCA1-deficient cancers by restoring homologous recombination capability 12. The protein's overexpression in triple-negative breast cancers correlates with poor patient survival 5.

Sources cited
1
SHLD2 is part of the shieldin complex, contains OB-fold domains that bind single-stranded DNA, and promotes NHEJ while suppressing DNA end resection
PMID: 30022168
2
SHLD2 acts downstream of 53BP1/RIF1 to promote DSB end-joining and counteract homologous recombination in BRCA1-deficient cells
PMID: 30022119
3
SHLD2 facilitates MAD2L2 dimerization which is essential for shieldin complex assembly and NHEJ activity
PMID: 34521823
4
USP25 deubiquitinates SHLD2 at K64 site, enhancing REV7 binding and promoting NHEJ
PMID: 38803048
5
SHLD2 overexpression in triple-negative breast cancers is associated with poor patient survival
PMID: 32306447
Disease Associationsⓘ20
goutOpen Targets
0.42Moderate
urolithiasisOpen Targets
0.31Weak
bladder calculusOpen Targets
0.21Weak
hyperinsulinism-hyperammonemia syndromeOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
trauma complicationOpen Targets
0.18Weak
cataractOpen Targets
0.18Weak
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.16Weak
femoral neck fractureOpen Targets
0.14Weak
nephrolithiasisOpen Targets
0.12Weak
neoplasmOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
head and neck malignant neoplasiaOpen Targets
0.03Suggestive
hyperuricemiaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
monogenic diabetesOpen Targets
0.01Suggestive
colon carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
REV3LProtein interaction100%TP53BP1Protein interaction96%SHLD3Protein interaction92%SHLD1Protein interaction82%MAD2L2Protein interaction63%RIF1Shared pathway35%
Tissue Expression6 tissues
Liver
100%
Lung
42%
Ovary
42%
Bone Marrow
35%
Heart
34%
Brain
23%
Gene Interaction Network
Click a node to explore
SHLD2REV3LTP53BP1SHLD3SHLD1MAD2L2RIF1
PROTEIN STRUCTURE
Preparing viewer…
PDB6KTO · 3.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.48 [0.36–0.66]
RankingsWhere SHLD2 stands among ~20K protein-coding genes
  • #12,037of 20,598
    Most Researched30
  • #4,835of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSHLD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The shieldin complex mediates 53BP1-dependent DNA repair.
PMID: 30022168
Nature · 2018
1.00
2
MAD2L2 dimerization and TRIP13 control shieldin activity in DNA repair.
PMID: 34521823
Nat Commun · 2021
0.90
3
USP25 Elevates SHLD2-Mediated DNA Double-Strand Break Repair and Regulates Chemoresponse in Cancer.
PMID: 38803048
Adv Sci (Weinh) · 2024
0.80
4
53BP1-RIF1-shieldin counteracts DSB resection through CST- and Polα-dependent fill-in.
PMID: 30022158
Nature · 2018
0.70
5
Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells.
PMID: 30022119
Nat Cell Biol · 2018
0.60