TTC12: Tetratricopeptide Repeat Domain 12
A gene encoding a tetratricopeptide repeat-containing protein involved in dynein arm assembly and ciliary function.
Gene Information Card
| Symbol | TTC12 |
|---|---|
| Full Name | Tetratricopeptide Repeat Domain 12 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 54970 ncbi.nlm.nih.gov/gene/54970 |
| Ensembl ID | ENSG00000149256 |
| UniProt ID | Q9H0D6 |
| OMIM ID | 610732 |
| HGNC ID | 23708 |
| Aliases | TPR repeat protein 12, TPR12, CILD39 |
Description
TTC12 encodes a tetratricopeptide repeat (TPR)-containing protein that localizes to the cytoplasm and is involved in the assembly of axonemal dynein arms in cilia. It is essential for normal ciliary motility and mucociliary clearance. Mutations in TTC12 cause primary ciliary dyskinesia type 39 (CILD39), characterized by chronic respiratory infections, situs inversus, and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 39 (CILD39) | Loss-of-function mutations impair dynein arm assembly, leading to defective ciliary motility. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary function during embryogenesis disrupts left-right body patterning. | OMIM |
| Male Infertility (Asthenozoospermia) | Impaired sperm flagellar motility due to defective dynein arms. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 7.1 | Low |
| Fallopian Tube | 6.8 | Low |
| Brain (Cerebellum) | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 5.1 | RNA-seq data from GTEx |
| BEAS-2B (Bronchial) | 6.3 | RNA-seq data from GTEx |
| HepG2 (Liver) | 2.4 | RNA-seq data from GTEx |
| K562 (Leukemia) | 1.8 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; associated with CILD39 |
| c.1045_1046del (p.Leu349Glufs*2) | Frameshift | Rare | Loss of function; associated with CILD39 |
| c.1573G>A (p.Gly525Arg) | Missense | Rare | Likely damaging; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TTC12 lead to truncated or absent protein, disrupting dynein arm assembly and causing primary ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for TTC12.
Dominant Negative (DN)
No dominant-negative mutations reported for TTC12.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • outer dynein arm assembly (GO:0036158) |
| • inner dynein arm assembly (GO:0036159) | • cilium-dependent cell motility (GO:0060285) |
| • protein binding (GO:0005515) |
Pathways
• REACT: R-HSA-5620920 (Cilium Assembly)
• REACT: R-HSA-5617833 (Cargo trafficking to the cilium)
Protein Summary
The TTC12 protein contains multiple tetratricopeptide repeat (TPR) motifs that mediate protein-protein interactions. It is a cytoplasmic protein essential for the assembly of both outer and inner dynein arms in cilia and flagella. Loss of TTC12 function results in defective ciliary motility, leading to primary ciliary dyskinesia with respiratory, reproductive, and laterality defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTC12 Knockout HEK293 Cell Line | EDJ-KQ12121 | Human | 54970 | Details Get a Quote |
| TTC12 Knockout A-549 Cell Line | EDJ-KQ40808 | Human | 54970 | Details Get a Quote |
| TTC12 Knockout HCT 116 Cell Line | EDJ-KQ40809 | Human | 54970 | Details Get a Quote |
| TTC12 Knockout HeLa Cell Line | EDJ-KQ40810 | Human | 54970 | Details Get a Quote |
