TLDC2: TLD Domain Containing 2
A gene encoding a protein of unknown function, characterized by a TLD (TBC/LisH/Dynein) domain.
Gene Information Card
| Symbol | TLDC2 |
|---|---|
| Full Name | TLD Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 221468 ncbi.nlm.nih.gov/gene/221468 |
| Ensembl ID | ENSG00000125868 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 617777 |
| HGNC ID | 28303 |
| Aliases | MGC45871, FLJ25758 |
Description
TLDC2 (TLD Domain Containing 2) is a protein-coding gene located on chromosome 20q13.33. The encoded protein contains a TLD (TBC/LisH/Dynein) domain, which is implicated in protein-protein interactions and cellular trafficking. The precise biological function of TLDC2 remains largely uncharacterized, but it is evolutionarily conserved and expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Moderate expression in kidney-derived cell line |
| HeLa | 2.0 | Low expression in cervical cancer cell line |
| K562 | 1.2 | Low expression in leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Protein Summary
The TLDC2 protein (UniProt Q8N9N2) is 344 amino acids long and contains a TLD domain. Its molecular function is not fully defined, but it is predicted to localize to the cytoplasm and may participate in vesicle trafficking or cytoskeletal dynamics. No enzymatic activity has been experimentally confirmed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
