TTC14: Tetratricopeptide Repeat Domain 14
A gene encoding a tetratricopeptide repeat-containing protein with potential roles in protein-protein interactions and cellular signaling.
Gene Information Card
| Symbol | TTC14 |
|---|---|
| Full Name | Tetratricopeptide Repeat Domain 14 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 151613 ncbi.nlm.nih.gov/gene/151613 |
| Ensembl ID | ENSG00000163738 |
| UniProt ID | Q96N46 |
| OMIM ID | 617056 |
| HGNC ID | 26047 |
| Aliases | FLJ11273, TPR repeat protein 14 |
Description
TTC14 (tetratricopeptide repeat domain 14) is a protein-coding gene located on chromosome 3q26.33. The encoded protein contains tetratricopeptide repeats (TPR), which are structural motifs involved in protein-protein interactions. TTC14 is expressed in various tissues and may play roles in cellular signaling and protein complex assembly. Limited functional characterization exists; further research is needed to elucidate its biological significance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 4.3 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Moderate expression |
| HeLa | 5.2 | Low expression |
| K562 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567delA (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/151613 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TTC14
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0005634 (nucleus) |
Pathways
• No curated pathways available
Protein Summary
The TTC14 protein (UniProt Q96N46) is 1,034 amino acids long and contains multiple tetratricopeptide repeats (TPR). TPR motifs mediate protein-protein interactions, suggesting TTC14 may function as a scaffold or adaptor in cellular complexes. Subcellular localization is predicted to be cytoplasmic and nuclear. The protein is expressed at low to moderate levels across tissues, with highest expression in testis. Functional studies are limited.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTC14 Knockout HEK293 Cell Line | EDJ-KQ2217 | Human | 151613 | Details Get a Quote |
| TTC14 Knockout A-549 Cell Line | EDJ-KQ21171 | Human | 151613 | Details Get a Quote |
| TTC14 Knockout HCT 116 Cell Line | EDJ-KQ22482 | Human | 151613 | Details Get a Quote |
| TTC14 Knockout HeLa Cell Line | EDJ-KQ22483 | Human | 151613 | Details Get a Quote |
| Ttc14 Knockout B16-F10 Cell Line | EDJ-KZ7 | Mouse | 151613 | Details Get a Quote |
| Ttc14 Knockout 4T1 Cell Line | EDJ-KZ69 | Mouse | 67120 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
