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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TCP11L1
t-complex 11 like 1
Chromosome 11 Β· 11p13
NCBI Gene: 55346Ensembl: ENSG00000176148.17HGNC: HGNC:25655UniProt: B3KQZ4
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmicrotubulesignal transductionendocrine neoplasmneurodegenerative diseaseexstrophy-epispadias complexbrain cancer
✦AI Summary

Based on limited published evidence, TCP11L1 is a protein involved in microtubule organization and signal transduction through protein binding interactions. The gene was identified in a chr11 deletion (11p13) associated with cryptorchidism and azoospermia 1, suggesting a potential role in gonadal development. Additionally, DNA methylation at the TCP11L1 locus was found to mediate 30.5% of cadmium-associated activities of daily living disability in older adults 2, indicating possible involvement in heavy metal response mechanisms. However, direct functional characterization remains limited.

Sources cited
1
TCP11L1 deletion at 11p13 associated with cryptorchidism and azoospermia, suggesting role in gonadal development
PMID: 24912414
2
TCP11L1 DNA methylation mediates 30.5% of cadmium-associated physical disability, implicating involvement in heavy metal response
PMID: 36036794
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
endocrine neoplasmOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.23Weak
exstrophy-epispadias complexOpen Targets
0.12Weak
brain cancerOpen Targets
0.02Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
cryptorchidismOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
azoospermiaOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
hyperplasiaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEPDC7Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
67%
Lung
38%
Heart
36%
Ovary
33%
Liver
28%
Gene Interaction Network
Click a node to explore
TCP11L1DEPDC7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NUJ3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.41–0.76]
RankingsWhere TCP11L1 stands among ~20K protein-coding genes
  • #11,434of 20,598
    Most Researched33
  • #6,029of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedTCP11L1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Associations of Heavy Metals with Activities of Daily Living Disability: An Epigenome-Wide View of DNA Methylation and Mediation Analysis.
PMID: 36036794
Environ Health Perspect Β· 2022
1.00
2
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.
PMID: 24912414
Reprod Biomed Online Β· 2014
0.50