TTC28: Tetratricopeptide Repeat Domain 28
A gene encoding a protein with tetratricopeptide repeats, implicated in mitotic spindle organization and cancer susceptibility.
Gene Information Card
| Symbol | TTC28 |
|---|---|
| Full Name | Tetratricopeptide Repeat Domain 28 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 23331 ncbi.nlm.nih.gov/gene/23331 |
| Ensembl ID | ENSG00000100100 |
| UniProt ID | Q96AY2 |
| OMIM ID | 615126 |
| HGNC ID | 29029 |
| Aliases | KIAA0103, TPRBK, TTC28-AS1 |
Description
TTC28 (tetratricopeptide repeat domain 28) is a protein-coding gene located on chromosome 22q12.1. The encoded protein contains multiple tetratricopeptide repeats (TPRs), which are structural motifs involved in protein-protein interactions. TTC28 is involved in mitotic spindle organization and chromosome segregation. Mutations and altered expression of TTC28 have been associated with various cancers, including colorectal and breast cancer, as well as neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of TTC28 expression leads to chromosomal instability and aneuploidy | COSMIC, ClinVar |
| Breast cancer | Somatic mutations and copy number alterations in TTC28 contribute to tumorigenesis | COSMIC, NCBI |
| Neurodevelopmental disorder with microcephaly and seizures | Homozygous loss-of-function variants impair mitotic spindle function | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Colon | 6.1 | Low |
| Breast | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.3 | Cervical cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal cancer cell line |
| A549 | 4.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.5% in colorectal cancer | Loss of function |
| c.567_568del (p.Glu189fs) | Frameshift deletion | 0.3% in breast cancer | Loss of function |
| c.2345A>G (p.Asn782Ser) | Missense | 0.1% in neurodevelopmental disorder | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TTC28 result in truncated proteins, leading to loss of mitotic spindle function and chromosomal instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TTC28.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TTC28.
View complete mutation data：
Gene Ontology (GO)
| • spindle (GO:0005819) | • chromosome segregation (GO:0007059) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Mitotic spindle organization
• Cell cycle
Protein Summary
The TTC28 protein (UniProt Q96AY2) contains multiple tetratricopeptide repeats (TPRs) that mediate protein-protein interactions. It localizes to the mitotic spindle and is essential for proper chromosome segregation. Loss of TTC28 function leads to aneuploidy and is implicated in cancer development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTC28 Knockout HEK293 Cell Line | EDJ-KQ7978 | Human | 23331 | Details Get a Quote |
| TTC28 Knockout A-549 Cell Line | EDJ-KQ33688 | Human | 23331 | Details Get a Quote |
| TTC28 Knockout HeLa Cell Line | EDJ-KQ33689 | Human | 23331 | Details Get a Quote |
| TTC28 Knockout HCT 116 Cell Line | EDJ-KQ72666 | Human | 23331 | Details Get a Quote |
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