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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COMMD3-BMI1
COMMD3-BMI1 readthrough
Chromosome 10 · 10p12.2
NCBI Gene: 100532731Ensembl: ENSG00000168283.15HGNC: HGNC:1066UniProt: P35226
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
neurodegenerative diseaseprimary ovarian insufficiency46,XX gonadal dysgenesisautosomal recessive spondylocostal dysostosis
✦AI Summary

COMMD3-BMI1 is a readthrough transcript located on chromosome 10 that appears to function as a regulatory gene involved in cellular proliferation and hematologic malignancy. In acute myeloid leukemia (AML), COMMD3-BMI1 was identified as a top transcription regulator within HOXA gene family regulatory networks, with involvement in cell growth, proliferation, and survival pathways 1. The gene has also been implicated in T-cell lymphoblastic lymphoma, where fusion transcripts involving COMMD3-BMI1 were detected and proposed to explain the overexpression of this driver gene 2. Additionally, COMMD3-BMI1 was identified as a hub gene in a competitive endogenous RNA (ceRNA) network associated with aldosterone-producing adenoma (APA), a common cause of secondary hypertension, suggesting potential involvement in endocrine tumorigenesis 3. The precise molecular mechanisms underlying COMMD3-BMI1 function remain incompletely characterized, though its consistent identification across multiple cancer genomic studies indicates its role as a potential oncogenic driver or regulatory factor in hematologic and endocrine malignancies. Further functional studies are needed to elucidate its specific biochemical mechanisms.

Sources cited
1
COMMD3-BMI1 identified as top transcription regulator in HOXA family regulatory network in AML, involved in cell growth, proliferation, and survival
PMID: 31210592
2
COMMD3-BMI1 fusion transcripts detected in T-cell lymphoblastic lymphoma that could explain overexpression of this driver gene
PMID: 30914738
3
COMMD3-BMI1 identified as hub gene in ceRNA regulatory network contributing to aldosterone-producing adenoma development
PMID: 36305047
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
primary ovarian insufficiencyOpen Targets
0.06Suggestive
46,XX gonadal dysgenesisOpen Targets
0.06Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
Familial hyperprolactinemiaOpen Targets
0.05Suggestive
familial hyperprolactinemiaOpen Targets
0.05Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
ring chromosome YOpen Targets
0.05Suggestive
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.05Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.05Suggestive
Kallmann syndromeOpen Targets
0.05Suggestive
partial androgen insensitivity syndromeOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.05Suggestive
Mayer-Rokitansky-Küster-Hauser syndromeOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 23 with or without anosmiaOpen Targets
0.05Suggestive
Leydig cell hypoplasia due to LHB deficiencyOpen Targets
0.05Suggestive
46,XY gonadal dysgenesis - motor and sensory neuropathyOpen Targets
0.05Suggestive
46,XY gonadal dysgenesis-motor and sensory neuropathy syndromeOpen Targets
0.05Suggestive
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU5F1Protein interaction100%DNMT1Protein interaction100%BMI1Protein interaction99%PHC1Protein interaction99%PHC2Protein interaction99%EZH1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Lung
25%
Ovary
13%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COMMD3-BMI1POU5F1DNMT1BMI1PHC1PHC2EZH1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P35226
View on AlphaFold ↗
RankingsWhere COMMD3-BMI1 stands among ~20K protein-coding genes
  • #17,033of 20,598
    Most Researched10
Genes detectedCOMMD3-BMI1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Identification of potential lncRNA-miRNA-mRNA regulatory network contributing to aldosterone-producing adenoma.
PMID: 36305047
J Cell Mol Med · 2022
1.00
2
Transcriptome analysis identifies key regulators and networks in Acute myeloid leukemia.
PMID: 31210592
Hematology · 2019
0.67
3
Detection of novel fusion-transcripts by RNA-Seq in T-cell lymphoblastic lymphoma.
PMID: 30914738
Sci Rep · 2019
0.33