HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CBLL2
Cbl proto-oncogene like 2
Chromosome X Β· Xp22.11
NCBI Gene: 158506Ensembl: ENSG00000175809.6HGNC: HGNC:26371UniProt: Q8N7E2
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase activityprotein ubiquitinationregulation of cell adhesionX-linked dominant hypophosphatemic ricketsX-linked hypophosphatemiagastric cancerresponse to vaccine
✦AI Summary

CBLL2 (Cbl proto-oncogene like 2) is an E3 ubiquitin ligase that catalyzes covalent attachment of ubiquitin moieties to substrate proteins 1. The protein contains a RING finger domain conferring E3 ubiquitin ligase activity and may operate on tyrosine-phosphorylated SRC substrates 1. CBLL2 shows testis-specific expression, with protein localization in spermatocytes, spermatids, Leydig cells, and mature sperm, particularly in the postacrosomal perinuclear theca and sperm tail 1. Its expression is regulated by promoter demethylation, with CpG island methylation silencing the gene in normal lung tissues while demethylation activates it in testicular and lung cancer tissues, identifying it as a cancer/testis antigen 2. The gene's promoter activity is directly inhibited by methylation of its CpG island region 2. Given its E3 ubiquitin ligase function and restricted expression pattern, CBLL2 likely plays a role in spermatogenesis and quality control mechanisms during sperm production. Its aberrant expression in lung cancers through promoter demethylation suggests potential involvement in cancer biology, though direct clinical significance remains to be fully established.

Sources cited
1
CBLL2 is an E3 ubiquitin ligase with RING finger domain that catalyzes ubiquitin attachment; testis-specific expression in spermatocytes, spermatids, and sperm localization
PMID: 20657603
2
CBLL2 is a cancer/testis gene activated by promoter demethylation in testis and lung cancer; CpG island methylation inhibits promoter activity
PMID: 20587329
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
X-linked dominant hypophosphatemic ricketsOpen Targets
0.46Moderate
X-linked hypophosphatemiaOpen Targets
0.46Moderate
gastric cancerOpen Targets
0.15Weak
response to vaccineOpen Targets
0.10Suggestive
Abnormal posterior eye segment morphologyOpen Targets
0.07Suggestive
retinoschisisOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
ovarian cancerOpen Targets
0.04Suggestive
urinary bladder carcinomaOpen Targets
0.04Suggestive
seborrheic dermatitisOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Miyoshi myopathyOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
dermatomyositisOpen Targets
0.03Suggestive
Ischemic strokeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CYTIPShared pathway100%SERTAD4Protein interaction79%WTAPProtein interaction74%VIRMAProtein interaction74%C2CD4AShared pathway50%C2CD4BShared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
100%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CBLL2CYTIPSERTAD4WTAPVIRMAC2CD4AC2CD4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N7E2
View on AlphaFold β†—
RankingsWhere CBLL2 stands among ~20K protein-coding genes
  • #16,128of 20,598
    Most Researched13
Genes detectedCBLL2
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Human RING finger protein ZNF645 is a novel testis-specific E3 ubiquitin ligase.
PMID: 20657603
Asian J Androl Β· 2010
1.00
2
Promoter demethylation mediates the expression of ZNF645, a novel cancer/testis gene.
PMID: 20587329
BMB Rep Β· 2010
0.67
3
Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.
PMID: 22539872
Mol Vis Β· 2012
0.33