TEDC2: Tubulin Epsilon And Delta Complex 2
A gene encoding a component of the tubulin epsilon and delta complex involved in centriole duplication and ciliogenesis.
Gene Information Card
| Symbol | TEDC2 |
|---|---|
| Full Name | Tubulin Epsilon And Delta Complex 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617826 |
| HGNC ID | 37257 |
| Aliases | C16orf59, FLJ39653 |
Description
TEDC2 encodes a component of the tubulin epsilon and delta complex, which is essential for centriole duplication and the formation of cilia. The protein localizes to centrioles and interacts with other complex members to regulate microtubule organization during cell division and ciliogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defective ciliogenesis due to impaired centriole duplication | PMID: 28494998 |
| Retinitis pigmentosa | Disrupted photoreceptor cilia maintenance | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 5.3 | Lung carcinoma cells |
| HepG2 | 3.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | 0.02% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg109* leads to premature termination and likely loss of protein function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • centriole (GO:0005813) | • centriole replication (GO:0005814) |
| • microtubule (GO:0005874) | • cell projection organization (GO:0030030) |
| • cilium assembly (GO:0060271) |
Pathways
• Centriole duplication pathway
• Ciliogenesis pathway
Protein Summary
TEDC2 is a 305-amino acid protein that localizes to centrioles and is part of the tubulin epsilon and delta complex. It plays a critical role in centriole duplication and cilia formation. The protein contains a conserved domain of unknown function (DUF) and is expressed in tissues with motile cilia, such as testis and respiratory epithelium.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEDC2 Knockout HEK293 Cell Line | EDJ-KQ3591 | Human | 80178 | Details Get a Quote |
| TEDC2 Knockout A-549 Cell Line | EDJ-KQ25500 | Human | 80178 | Details Get a Quote |
| TEDC2 Knockout HCT 116 Cell Line | EDJ-KQ25501 | Human | 80178 | Details Get a Quote |
| TEDC2 Knockout HeLa Cell Line | EDJ-KQ25502 | Human | 80178 | Details Get a Quote |
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