HSPB2-C11ORF52

Chr 11

HSPB2-C11orf52 readthrough (NMD candidate)

Also known as: C11orf52

NCBI Gene: 100528019ENSG00000254445

This locus represents a read-through transcript between the HSPB2 and C11orf52 genes that is unlikely to produce a functional protein product due to nonsense-mediated mRNA decay. No disease associations have been established for this transcriptional read-through product.

ResearchSummary from RefSeq
Clinical Summary— HSPB2-C11ORF52
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ClinVar Variants
1 unique Pathogenic / Likely Pathogenic· 27 VUS of 31 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

31 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1
VUS27
Likely Benign2
1
Pathogenic
27
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
0
0
0
0
0
VUS
1
25
1
0
27
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total1272030

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HSPB2-C11ORF52 · 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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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