BCOR encodes BCL6 corepressor (1,755 aa). Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. Highest expression in Artery Tibial (27.0 TPM) and Ovary (19.6 TPM).

Microphthalmia, syndromic 2 is caused by mutations in the BCOR gene on chromosome X.

BCOR is classified as a druggable target (Clinically Actionable category) with score 2.2.

Genetic testing for BCOR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microphthalmia, syndromic 2 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 3 very common features, 21 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for microphthalmia, syndromic 2.

112 publications have been identified in PubMed for microphthalmia, syndromic 2. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (19%).

Recent Publications

• Jha NK (2026). [PMID: 42036706](https://pubmed.ncbi.nlm.nih.gov/42036706/). *J Cardiothorac Surg*. [Case Report / Case Series]

• Schipke JD (2026). [PMID: 41397651](https://pubmed.ncbi.nlm.nih.gov/41397651/). *Am J Med*. [Review / Meta-Analysis]

• Wang X (2026). [PMID: 40826929](https://pubmed.ncbi.nlm.nih.gov/40826929/). *Med Gas Res*. [Epidemiology / Natural History]

• Desaga JU (2026). [PMID: 42125524](https://pubmed.ncbi.nlm.nih.gov/42125524/). *Eur Heart J Case Rep*. [Case Report / Case Series]

• Mahajan K (2026). [PMID: 29261938](https://pubmed.ncbi.nlm.nih.gov/29261938/). *Unknown Journal*. [Epidemiology / Natural History]

• Kang S (2026). [PMID: 41236190](https://pubmed.ncbi.nlm.nih.gov/41236190/). *Ophthalmic Genet*. [Case Report / Case Series]

• Yoshida K (2026). [PMID: 41819579](https://pubmed.ncbi.nlm.nih.gov/41819579/). *BMJ Open*. [Clinical Trial Publication]

• Martín-Alguacil N (2026). [PMID: 41745959](https://pubmed.ncbi.nlm.nih.gov/41745959/). *Vet Sci*. [Review / Meta-Analysis]

• Bsat D (2026). [PMID: 42008425](https://pubmed.ncbi.nlm.nih.gov/42008425/). *Cardiol Rev*. [Diagnostic / Biomarker]

• Maddali MM (2026). [PMID: 41764019](https://pubmed.ncbi.nlm.nih.gov/41764019/). *J Cardiothorac Vasc Anesth*. [Diagnostic / Biomarker]