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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.
CDRT15
CMT1A duplicated region transcript 15
Chromosome 17 Β· 17p12
NCBI Gene: 146822Ensembl: ENSG00000223510.7HGNC: HGNC:14395UniProt: F2Z3C1
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
refractive errorneurodegenerative diseaseidiopathic pulmonary fibrosisAbnormality of refraction
✦AI Summary

Based on limited published evidence, CDRT15 is a gene identified within the 1.4-Mb CMT1A/HNPP duplicated region on chromosome 17 1. Originally discovered during characterization of this genomic region, CDRT15's specific molecular function remains largely uncharacterized in standard databases. Recent bioinformatic analysis suggests potential involvement in cholangiocarcinoma pathogenesis, with CDRT15 overexpression associated with poor prognosis and immune/inflammatory responses in cancer tissues 2. However, mechanistic understanding of CDRT15 function requires further investigation beyond these limited studies.

Sources cited
1
CDRT15 identified as a new gene within the 1.4-Mb CMT1A duplicated region; primarily established in context of genomic rearrangement characterization
PMID: 11381029
2
CDRT15 overexpressed in cholangiocarcinoma; associated with poor prognosis and immune/inflammatory response pathways
PMID: 37543771
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
refractive errorOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.29Weak
idiopathic pulmonary fibrosisOpen Targets
0.27Weak
Abnormality of refractionOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.16Weak
cholangiocarcinomaOpen Targets
0.07Suggestive
glomerulonephritisOpen Targets
0.05Suggestive
retinal degenerationOpen Targets
0.04Suggestive
paralytic strabismusOpen Targets
0.04Suggestive
keratoconusOpen Targets
0.04Suggestive
post term pregnancyOpen Targets
0.04Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.04Suggestive
Fuchs' endothelial dystrophyOpen Targets
0.04Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
cutaneous melanomaOpen Targets
0.03Suggestive
ocular hypotensionOpen Targets
0.03Suggestive
response to antihypertensive drugOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
self-injurious ideationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TVP23BProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Lung
44%
Ovary
31%
Brain
6%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CDRT15TVP23B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96T59
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.34LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.46–1.34]
RankingsWhere CDRT15 stands among ~20K protein-coding genes
  • #18,040of 20,598
    Most Researched6
  • #14,064of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedCDRT15
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
PMID: 11381029
Genome Res Β· 2001
1.00
2
Bioinformatic analysis the expression and clinical significance of CDRT15 in cholangiocarcinoma using TCGA database.
PMID: 37543771
Medicine (Baltimore) Β· 2023
0.50